PMID: 31874108

Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal of clinical investigation
Mateo, Joaquin J, Seed, George G, Bertan, Claudia C, Rescigno, Pasquale P, Dolling, David D, Figueiredo, Ines I, Miranda, Susana S, Nava Rodrigues, Daniel D, Gurel, Bora B, Clarke, Matthew M, Atkin, Mark M, Chandler, Rob R, Messina, Carlo C, Sumanasuriya, Semini S, Bianchini, Diletta D, Barrero, Maialen M, Petermolo, Antonella A, Zafeiriou, Zafeiris Z, Fontes, Mariane M, Perez-Lopez, Raquel R, Tunariu, Nina N, Fulton, Ben B, Jones, Robert R, McGovern, Ursula U, Ralph, Christy C, Varughese, Mohini M, Parikh, Omi O, Jain, Suneil S, Elliott, Tony T, Sandhu, Shahneen S, Porta, Nuria N, Hall, Emma E, Yuan, Wei W, Carreira, Suzanne S, de Bono, Johann S JS
2020-04-01

4736 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-108106326-A-G ATM c.332-71A>G - IntronicSNV - 4/62
3-142183931-C-T ATR c.7041+8G>A - IntronicSNV - 41/46
11-108178738-G-A ATM c.5762+27G>A - IntronicSNV - 38/62
11-108175394-T-C ATM c.5497-8T>C - IntronicSNV - 36/62
11-108139120-G-A ATM c.2639-17G>A - IntronicSNV - 17/62
11-108139120-G-T ATM c.2639-17G>T - IntronicSNV - 17/62
11-108165634-A-G ATM c.4777-20A>G - IntronicSNV - 31/62
11-108224615-A-C ATM c.8786+8A>C - IntronicSNV - 60/62
11-108224615-A-G ATM c.8786+8A>G - IntronicSNV - 60/62
17-37868348-C-T ERBB2 c.1021+48C>T - IntronicSNV - 8/26
1-156834269-G-A NTRK1 c.287+49G>A - IntronicSNV - 2/16
1-156834269-G-T NTRK1 c.287+49G>T - IntronicSNV - 2/16
11-108175387-G-C ATM c.5497-15G>C - IntronicSNV - 36/62
11-108175387-G-T ATM c.5497-15G>T - IntronicSNV - 36/62
3-37056045-A-G MLH1 c.790+10A>G - IntronicSNV - 9/18
3-37059129-G-A MLH1 c.884+39G>A - IntronicSNV - 10/18
12-25362854-C-T KRAS c.451-9G>A - IntronicSNV - 4/4
11-94200962-A-C MRE11 c.1098+17T>G - IntronicSNV - 10/19
11-94200962-A-G MRE11 c.1098+17T>C - IntronicSNV - 10/19
11-94197260-A-G MRE11 c.1225+19T>C - IntronicSNV - 11/19
17-7576841-A-G TP53 c.993+12T>C - IntronicSNV - 9/10
5-112179909-C-A APC c.*86C>A - 3-UTRSNV 16/16 -
17-7579619-G-T TP53 c.97-29C>A - IntronicSNV - 3/10
17-7573057-G-A TP53 c.1101-49C>T - IntronicSNV - 10/10
17-7573081-C-G TP53 c.1101-73G>C - IntronicSNV - 10/10
8-90949166-G-C NBN c.2234+88C>G - IntronicSNV - 15/15
8-90982556-C-T NBN c.896+36G>A - IntronicSNV - 7/15
8-90982803-C-T NBN c.703-18G>A - IntronicSNV - 6/15
2-47703500-T-A MSH2 c.2006-6T>A - IntronicSNV - 12/15
2-47703500-T-C MSH2 c.2006-6T>C - IntronicSNV - 12/15
2-47703500-T-G MSH2 c.2006-6T>G - IntronicSNV - 12/15
8-128750540-A-G MYC c.77A>G p.N26S Missense 2/3 -
17-41245471-C-T BRCA1 c.2077G>A p.D693N Missense 10/23 -
17-41222975-C-T BRCA1 c.4956G>A p.M1652I Missense 15/23 -
17-41245027-G-A BRCA1 c.2521C>T p.R841W Missense 10/23 -
3-37035103-G-C MLH1 c.65G>C p.G22A Missense 1/19 -
7-55227850-A-G EGFR c.1317A>G p.A439= Synonymous 12/28 -
7-55233038-G-A EGFR c.1788G>A p.P596= Synonymous 15/28 -
13-32893271-A-G BRCA2 c.125A>G p.Y42C Missense 3/27 -
X-66765627-G-A AR c.639G>A p.E213= Synonymous 1/8 -
5-112173250-G-A APC c.1959G>A p.R653= Synonymous 16/16 -
8-133880367-G-A TG c.75G>A p.Q25= Synonymous 2/48 -
11-108124761-T-C ATM c.2119T>C p.S707P Missense 13/63 -
13-32972884-A-G BRCA2 c.10234A>G p.I3412V Missense 27/27 -
11-108119770-C-G ATM c.1176C>G p.G392= Synonymous 9/63 -
11-108138003-T-C ATM c.2572T>C p.F858L Missense 17/63 -
11-108175463-A-T ATM c.5558A>T p.D1853V Missense 37/63 -
2-48027755-T-C MSH6 c.2633T>C p.V878A Missense 4/10 -
2-48027394-C-T MSH6 c.2272C>T p.L758= Synonymous 4/10 -
2-48033750-A-G MSH6 c.3961A>G p.R1321G Missense 9/10 -
17-37879585-A-G ERBB2 c.1960A>G p.I654V Missense 17/27 -
3-142168331-C-T ATR c.7875G>A p.Q2625= Synonymous 47/47 -
16-89833576-G-C FANCA c.2574C>G p.S858R Missense 27/43 -
16-89833576-G-T FANCA c.2574C>A p.S858R Missense 27/43 -
3-142188337-A-C ATR c.6394T>G p.Y2132D Missense 38/47 -
3-142284987-G-A ATR c.268C>T p.H90Y Missense 3/47 -
3-142274770-T-C ATR c.2290A>G p.K764E Missense 10/47 -
3-142215233-G-A ATR c.5868C>T p.Y1956= Synonymous 34/47 -
3-142281298-C-T ATR c.946G>A p.V316I Missense 4/47 -
3-142269075-C-T ATR c.2875G>A p.V959M Missense 14/47 -
3-142217537-A-G ATR c.5460T>C p.Y1820= Synonymous 32/47 -
3-142280108-T-C ATR c.1326A>G p.K442= Synonymous 5/47 -
3-142275353-C-T ATR c.1950G>A p.E650= Synonymous 9/47 -
3-142268372-C-T ATR c.3120G>A p.L1040= Synonymous 15/47 -
11-108106443-T-A ATM c.378T>A p.D126E Missense 5/63 -
11-108127010-C-A ATM c.2193C>A p.Y731* Nonsense 14/63 -
11-108127010-C-T ATM c.2193C>T p.Y731= Synonymous 14/63 -
11-108186610-G-A ATM c.6067G>A p.G2023R Missense 41/63 -
11-108128238-A-T ATM c.2281A>T p.T761S Missense 15/63 -
11-108139183-A-G ATM c.2685A>G p.L895= Synonymous 18/63 -
11-108160350-C-T ATM c.4258C>T p.L1420F Missense 29/63 -
11-108159732-C-T ATM c.4138C>T p.H1380Y Missense 28/63 -
11-108138045-C-T ATM c.2614C>T p.P872S Missense 17/63 -
11-108143456-C-G ATM c.3161C>G p.P1054R Missense 22/63 -
11-108114727-G-C ATM c.544G>C p.V182L Missense 6/63 -
11-108143299-A-G ATM c.3118A>G p.M1040V Missense 21/63 -
17-7578210-T-C TP53 c.639A>G p.R213= Synonymous 6/11 -
17-7579579-C-T TP53 c.108G>A p.P36= Synonymous 4/11 -
5-112175240-G-C APC c.3949G>C p.E1317Q Missense 16/16 -
11-108115587-C-T ATM c.735C>T p.V245= Synonymous 7/63 -
11-108180917-T-C ATM c.5793T>C p.A1931= Synonymous 39/63 -
8-90983460-G-A NBN c.643C>T p.R215W Missense 6/16 -
13-32906480-A-C BRCA2 c.865A>C p.N289H Missense 10/27 -
13-32953550-G-A BRCA2 c.8851G>A p.A2951T Missense 22/27 -
17-7577098-T-G TP53 c.840A>C p.R280S Missense 8/11 -
17-7578235-T-A TP53 c.614A>T p.Y205F Missense 6/11 -
11-108160454-A-C ATM c.4362A>C p.K1454N Missense 29/63 -
13-32972525-C-T BRCA2 c.9875C>T p.P3292L Missense 27/27 -
11-32417945-T-C WT1 c.1122A>G p.R374= Synonymous 7/10 -
17-37872050-A-G ERBB2 c.1371A>G p.S457= Synonymous 12/27 -
7-55231426-T-C EGFR c.1632T>C p.G544= Synonymous 14/28 -
7-55229202-C-T EGFR c.1509C>T p.G503= Synonymous 13/28 -
7-55233089-C-T EGFR c.1839C>T p.A613= Synonymous 15/28 -
7-55214405-G-A EGFR c.531G>A p.S177= Synonymous 4/28 -
7-55223554-C-T EGFR c.921C>T p.C307= Synonymous 8/28 -
7-55259450-C-T EGFR c.2508C>T p.R836= Synonymous 21/28 -
13-32906980-A-G BRCA2 c.1365A>G p.S455= Synonymous 10/27 -
13-32910721-T-C BRCA2 c.2229T>C p.H743= Synonymous 11/27 -
13-32911463-A-G BRCA2 c.2971A>G p.N991D Missense 11/27 -
1-156848946-G-T NTRK1 c.1838G>T p.G613V Missense 15/17 -
2-215617178-C-G BARD1 c.1670G>C p.C557S Missense 7/11 -
3-37089130-AA-GC MLH1 c.1852_1853delAAinsGC p.K618A Missense 16/19 -
2-48025785-A-C MSH6 c.663A>C p.E221D Missense 4/10 -
2-47643457-G-A MSH2 c.965G>A p.G322D Missense 6/16 -
10-43615094-C-T RET c.2508C>T p.S836= Synonymous 14/20 -
11-108164092-T-A ATM c.4664T>A p.L1555H Missense 31/63 -
11-108170506-A-C ATM c.5071A>C p.S1691R Missense 34/63 -
11-108119823-T-C ATM c.1229T>C p.V410A Missense 9/63 -
9-135772717-G-A TSC1 c.2829C>T p.A943= Synonymous 22/23 -
16-2114422-C-T TSC2 c.1593C>T p.I531= Synonymous 15/42 -
11-108160516-A-G ATM c.4424A>G p.Y1475C Missense 29/63 -
11-108117787-C-T ATM c.998C>T p.S333F Missense 8/63 -
11-108098592-T-C ATM c.162T>C p.Y54= Synonymous 3/63 -
16-23632683-C-T PALB2 c.3113G>A p.W1038* Nonsense 10/13 -
14-104165838-C-T XRCC3 c.637G>A p.D213N Missense 8/10 -
13-32945172-A-C BRCA2 c.8567A>C p.E2856A Missense 20/27 -
13-32911295-G-A BRCA2 c.2803G>A p.D935N Missense 11/27 -
13-32906766-C-T BRCA2 c.1151C>T p.S384F Missense 10/27 -
10-123310871-A-G FGFR2 c.557T>C p.M186T Missense 5/18 -
22-29130458-T-C CHEK2 c.252A>G p.E84= Synonymous 2/15 -
16-2114407-C-T TSC2 c.1578C>T p.S526= Synonymous 15/42 -
16-2125834-T-C TSC2 c.2580T>C p.F860= Synonymous 23/42 -
13-32937521-G-A BRCA2 c.8182G>A p.V2728I Missense 18/27 -
13-32912750-G-T BRCA2 c.4258G>T p.D1420Y Missense 11/27 -
13-32913077-G-A BRCA2 c.4585G>A p.G1529R Missense 11/27 -
13-32937488-G-T BRCA2 c.8149G>T p.A2717S Missense 18/27 -
13-32912361-G-A BRCA2 c.3869G>A p.C1290Y Missense 11/27 -
13-32911418-TC-AT BRCA2 c.2926_2927delTCinsAT p.S976I Missense 11/27 -
17-41245900-T-G BRCA1 c.1648A>C p.N550H Missense 10/23 -
13-32911375-G-A BRCA2 c.2883G>A p.Q961= Synonymous 11/27 -
17-41244130-T-C BRCA1 c.3418A>G p.S1140G Missense 10/23 -
13-32912560-G-A BRCA2 c.4068G>A p.L1356= Synonymous 11/27 -
17-41243509-T-C BRCA1 c.4039A>G p.R1347G Missense 10/23 -
17-41244429-C-T BRCA1 c.3119G>A p.S1040N Missense 10/23 -
13-32913173-C-A BRCA2 c.4681C>A p.H1561N Missense 11/27 -
17-41226488-C-A BRCA1 c.4535G>T p.S1512I Missense 14/23 -
17-41245090-T-C BRCA1 c.2458A>G p.K820E Missense 10/23 -
13-32911756-T-C BRCA2 c.3264T>C p.P1088= Synonymous 11/27 -
13-32910456-C-G BRCA2 c.1964C>G p.P655R Missense 11/27 -
13-32907000-A-G BRCA2 c.1385A>G p.E462G Missense 10/27 -
13-32929309-A-G BRCA2 c.7319A>G p.H2440R Missense 14/27 -
13-32914904-G-T BRCA2 c.6412G>T p.V2138F Missense 11/27 -
13-32972760-G-A BRCA2 c.10110G>A p.R3370= Synonymous 27/27 -
13-32944667-A-C BRCA2 c.8460A>C p.V2820= Synonymous 19/27 -
13-32972380-G-A BRCA2 c.9730G>A p.V3244I Missense 27/27 -
17-41246092-A-G BRCA1 c.1456T>C p.F486L Missense 10/23 -
13-32914815-G-A BRCA2 c.6323G>A p.R2108H Missense 11/27 -
17-41223119-T-C BRCA1 c.4812A>G p.Q1604= Synonymous 15/23 -
13-32914592-C-T BRCA2 c.6100C>T p.R2034C Missense 11/27 -
17-41246061-C-T BRCA1 c.1487G>A p.R496H Missense 10/23 -
13-32953529-A-T BRCA2 c.8830A>T p.I2944F Missense 22/27 -
13-32929007-G-C BRCA2 c.7017G>C p.K2339N Missense 14/27 -
6-138196066-T-G TNFAIP3 c.380T>G p.F127C Missense 3/9 -
3-37092025-C-T MLH1 c.2152C>T p.H718Y Missense 19/19 -
3-41266097-G-C CTNNB1 c.94G>C p.D32H Missense 3/15 -
16-14028081-C-T ERCC4 c.1135C>T p.P379S Missense 7/11 -
8-30921935-G-A WRN c.340G>A p.V114I Missense 4/35 -
8-30938704-G-A WRN c.1161G>A p.M387I Missense 9/35 -
12-121416864-C-T HNF1A c.293C>T p.A98V Missense 1/10 -
13-32944585-G-A BRCA2 c.8378G>A p.G2793E Missense 19/27 -
9-5077469-G-A JAK2 c.1881G>A p.E627= Synonymous 15/25 -
3-37067306-G-A MLH1 c.1217G>A p.S406N Missense 12/19 -
3-37090070-G-T MLH1 c.1959G>T p.L653= Synonymous 17/19 -
2-48026630-C-G MSH6 c.1508C>G p.S503C Missense 4/10 -
2-48030603-C-T MSH6 c.3217C>T p.P1073S Missense 5/10 -
17-7579864-C-T TP53 c.49G>A p.E17K Missense 2/11 -
8-90982691-G-A NBN c.797C>T p.P266L Missense 7/16 -
5-112178795-G-A APC c.7504G>A p.G2502S Missense 16/16 -
5-112173899-C-T APC c.2608C>T p.P870S Missense 16/16 -
5-112178995-A-G APC c.7704A>G p.G2568= Synonymous 16/16 -
5-112178212-G-A APC c.6921G>A p.S2307= Synonymous 16/16 -
5-112178492-C-T APC c.7201C>T p.L2401= Synonymous 16/16 -
17-7577107-A-C TP53 c.831T>G p.C277W Missense 8/11 -
8-90990521-T-C NBN c.511A>G p.I171V Missense 5/16 -
8-90993640-C-T NBN c.283G>A p.D95N Missense 3/16 -
17-41249297-G-T BRCA1 c.557C>A p.S186Y Missense 8/23 -
15-91326099-C-T BLM c.2603C>T p.P868L Missense 13/22 -
12-58145379-T-C CDK4 c.122A>G p.N41S Missense 2/8 -
2-215595164-G-A BARD1 c.1972C>T p.R658C Missense 10/11 -
22-29091782-G-A CHEK2 c.1175C>T p.A392V Missense 11/15 -
13-32913271-A-C BRCA2 c.4779A>C p.E1593D Missense 11/27 -
17-7578507-G-T TP53 c.423C>A p.C141* Nonsense 5/11 -
5-112154969-C-T APC c.1240C>T p.R414C Missense 10/16 -
2-47630458-A-G MSH2 c.128A>G p.Y43C Missense 1/16 -
7-6026865-T-C PMS2 c.1531A>G p.T511A Missense 11/15 -
7-6026607-T-A PMS2 c.1789A>T p.T597S Missense 11/15 -
3-37092019-G-A MLH1 c.2146G>A p.V716M Missense 19/19 -
2-47710015-T-G MSH2 c.2732T>G p.L911R Missense 16/16 -
2-48026308-C-G MSH6 c.1186C>G p.L396V Missense 4/10 -
7-116340262-A-G MET c.1124A>G p.N375S Missense 2/21 -
16-23619235-A-C PALB2 c.3300T>G p.T1100= Synonymous 12/13 -
16-23634293-C-T PALB2 c.2993G>A p.G998E Missense 9/13 -
7-140481476-C-T BRAF c.1332G>A p.R444= Synonymous 11/18 -
7-116411923-C-T MET c.2908C>T p.R970C Missense 14/21 -
7-116411990-C-T MET c.2975C>T p.T992I Missense 14/21 -
5-112179153-C-G APC c.7862C>G p.S2621C Missense 16/16 -
5-112174677-T-C APC c.3386T>C p.L1129S Missense 16/16 -
9-5070050-T-C JAK2 c.1639T>C p.F547L Missense 12/25 -
17-41219711-A-T BRCA1 c.4988T>A p.M1663K Missense 16/23 -
2-48027853-C-T MSH6 c.2731C>T p.R911* Nonsense 4/10 -
3-178927410-A-G PIK3CA c.1173A>G p.I391M Missense 7/21 -
16-14041848-C-T ERCC4 c.2395C>T p.R799W Missense 11/11 -
8-145740372-C-G RECQL4 c.1568G>C p.S523T Missense 9/22 -
10-43613908-A-T RET c.2372A>T p.Y791F Missense 13/20 -
4-1806131-T-C FGFR3 c.1150T>C p.F384L Missense 9/18 -
5-112174412-C-T APC c.3121C>T p.Q1041* Nonsense 16/16 -
5-112175912-C-T APC c.4621C>T p.Q1541* Nonsense 16/16 -
2-48018081-A-G MSH6 c.276A>G p.P92= Synonymous 2/10 -
16-23641340-G-A PALB2 c.2135C>T p.A712V Missense 5/13 -
16-23641461-C-G PALB2 c.2014G>C p.E672Q Missense 5/13 -
12-121434401-T-G HNF1A c.1165T>G p.L389V Missense 6/10 -
10-89717625-T-A PTEN c.650T>A p.V217D Missense 7/9 -
17-7578376-C-T TP53 c.554G>A p.S185N Missense 5/11 -
17-7576865-A-C TP53 c.981T>G p.Y327* Nonsense 9/11 -
10-123260446-C-G FGFR2 c.1455G>C p.K485N Missense 11/18 -
10-123325158-G-A FGFR2 c.170C>T p.S57L Missense 3/18 -
4-1801031-G-A FGFR3 c.160G>A p.G54R Missense 3/18 -
4-1806131-T-A FGFR3 c.1150T>A p.F384I Missense 9/18 -
4-1806629-C-T FGFR3 c.1345C>T p.P449S Missense 10/18 -
4-1807537-C-T FGFR3 c.1706C>T p.A569V Missense 13/18 -
7-116339178-C-T MET c.40C>T p.L14F Missense 2/21 -
7-116339248-T-C MET c.110T>C p.V37A Missense 2/21 -
7-116339642-G-T MET c.504G>T p.E168D Missense 2/21 -
7-116339745-T-A MET c.607T>A p.S203T Missense 2/21 -
7-116340039-A-G MET c.901A>G p.T301A Missense 2/21 -
7-116340086-A-G MET c.948A>G p.I316M Missense 2/21 -
7-116340177-G-A MET c.1039G>A p.A347T Missense 2/21 -
7-116340214-G-A MET c.1076G>A p.R359Q Missense 2/21 -
7-116340309-G-A MET c.1171G>A p.G391R Missense 2/21 -
22-30057303-G-A NF2 c.785G>A p.R262Q Missense 8/16 -
1-45800033-T-C MUTYH c.115+30A>G - IntronicSNV - 2/15
17-56769979-C-T RAD51C c.1-26C>T - 5-UTRSNV 1/9 -
11-47260477-C-T DDB2 c.*77C>T - 3-UTRSNV 10/10 -
1-11166713-T-C MTOR c.*829A>G - 3-UTRSNV 58/58 -
1-11167146-G-A MTOR c.*396C>T - 3-UTRSNV 58/58 -
13-103514459-C-T ERCC5 c.960C>T p.D320= Synonymous 8/15 -
17-7577567-A-C TP53 c.714T>G p.C238W Missense 7/11 -
17-7577138-C-T TP53 c.800G>A p.R267Q Missense 8/11 -
17-7577115-A-G TP53 c.823T>C p.C275R Missense 8/11 -
17-7577108-C-T TP53 c.830G>A p.C277Y Missense 8/11 -
16-23637631-C-T PALB2 c.2674G>A p.E892K Missense 7/13 -
16-23647146-T-C PALB2 c.721A>G p.N241D Missense 4/13 -
16-23635348-A-C PALB2 c.2816T>G p.L939W Missense 8/13 -
16-23637715-G-A PALB2 c.2590C>T p.P864S Missense 7/13 -
10-89717676-G-A PTEN c.701G>A p.R234Q Missense 7/9 -
16-338189-C-T AXIN1 c.2522G>A p.R841Q Missense 11/11 -
1-45798475-T-C MUTYH c.452A>G p.Y151C Missense 7/16 -
1-45797228-C-T MUTYH c.1103G>A p.G368D Missense 13/16 -
14-75513534-G-A MLH3 c.2825C>T p.T942I Missense 2/13 -
10-43595999-C-A RET c.166C>A p.L56M Missense 2/20 -
3-14200382-G-T XPC c.1001C>A p.P334H Missense 9/16 -
3-14199908-C-T XPC c.1475G>A p.R492H Missense 9/16 -
3-14214524-G-A XPC c.142C>T p.L48F Missense 2/16 -
13-103513944-A-G ERCC5 c.760A>G p.M254V Missense 7/15 -
13-103515085-G-C ERCC5 c.1586G>C p.C529S Missense 8/15 -
3-178938863-TG-AT PIK3CA c.2105_2106delTGinsAT p.L702H Missense 14/21 -
10-43610044-A-G RET c.1996A>G p.K666E Missense 11/20 -
9-98011497-G-A FANCC c.77C>T p.S26F Missense 2/15 -
8-30938648-C-T WRN c.1105C>T p.R369* Nonsense 9/35 -
9-5065003-C-G JAK2 c.1177C>G p.L393V Missense 9/25 -
16-68772239-C-A CDH1 c.88C>A p.P30T Missense 2/16 -
1-11190698-G-A MTOR c.5501C>T p.T1834M Missense 39/58 -
17-47696688-T-C SPOP c.260A>G p.Y87C Missense 4/10 -
3-178947187-C-T PIK3CA c.2623C>T p.H875Y Missense 18/21 -
8-90983475-C-A NBN c.628G>T p.V210F Missense 6/16 -
15-89835937-A-G FANCI c.2011A>G p.I671V Missense 21/38 -
16-2127723-C-T TSC2 c.2962C>T p.R988C Missense 26/42 -
10-50679030-T-C ERCC6 c.3061A>G p.I1021V Missense 17/21 -
2-215595159-T-C BARD1 c.1977A>G p.R659= Synonymous 10/11 -
2-215593452-C-T BARD1 c.2282G>A p.S761N Missense 11/11 -
10-89624275-C-T PTEN c.49C>T p.Q17* Nonsense 1/9 -
1-115256669-G-A NRAS c.112-70C>T - IntronicSNV - 2/6
2-58390679-T-C FANCL c.692-27A>G - IntronicSNV - 8/13
2-58390679-T-G FANCL c.692-27A>C - IntronicSNV - 8/13
10-43612226-C-T RET c.2284+47C>T - IntronicSNV - 12/19
16-68853375-G-A CDH1 c.1711+47G>A - IntronicSNV - 11/15
10-123247751-T-TA FGFR2 c.1864-125_1864-125dup - IntronicInsertion - 13/17
8-30948072-T-A WRN c.1720+24T>A - IntronicSNV - 14/34
8-145737040-C-T RECQL4 c.3502+24G>A - intron_variant - 21/21
15-89856250-G-A FANCI c.3720+47G>A - IntronicSNV - 35/37
15-89857953-A-T FANCI c.3816+15A>T - IntronicSNV - 36/37
1-120612043-G-A NOTCH2 c.1-23C>T - 5-UTRSNV 1/34 -
1-120612043-G-T NOTCH2 c.1-23C>A - 5-UTRSNV 1/34 -
X-76940534-A-G ATRX c.595-36T>C - IntronicSNV - 7/34
19-11168896-A-G SMARCA4 c.4425-35A>G - IntronicSNV - 30/34
11-32449417-C-G WT1 c.887+85G>C - intron_variant - 3/9
17-63532365-C-T AXIN2 c.2141+73G>A - IntronicSNV - 8/10
16-89828437-A-C FANCA c.2779-7T>G - IntronicSNV - 28/42
16-89828437-A-G FANCA c.2779-7T>C - IntronicSNV - 28/42
9-139400406-C-T NOTCH1 c.4015-73G>A - IntronicSNV - 24/33
16-89845287-A-G FANCA c.1777-29T>C - IntronicSNV - 19/42
12-56491740-G-C ERBB3 c.2616+16G>C - IntronicSNV - 21/27
1-65305522-G-A JAK1 c.2650-44C>T - IntronicSNV - 19/24
13-32899388-A-C BRCA2 c.425+67A>C - IntronicSNV - 4/26
2-58431410-G-A FANCL c.375-49C>T - IntronicSNV - 5/13
2-58431410-G-C FANCL c.375-49C>G - IntronicSNV - 5/13
5-80040532-A-G MSH3 c.1763+98A>G - IntronicSNV - 12/23
1-65321409-T-A JAK1 c.1459-28A>T - IntronicSNV - 10/24
1-65321409-T-C JAK1 c.1459-28A>G - IntronicSNV - 10/24
22-29130347-G-GT CHEK2 c.319+43_319+43dup - IntronicInsertion - 2/14
11-32449661-G-A WT1 c.785-57C>T - intron_variant - 2/9
11-108236264-C-G ATM c.*29C>G - 3-UTRSNV 63/63 -
8-48689366-C-T PRKDC c.12179+39G>A - intron_variant - 86/86
3-41274815-C-G CTNNB1 c.1082-17C>G - IntronicSNV - 7/14
16-89862434-T-C FANCA c.894-8A>G - IntronicSNV - 10/42
17-63532948-A-T AXIN2 c.1907+39T>A - IntronicSNV - 7/10
11-32449420-C-A WT1 c.887+82G>T - intron_variant - 3/9
11-108214175-T-C ATM c.8418+77T>C - IntronicSNV - 57/62
17-63545622-T-C AXIN2 c.956+16A>G - IntronicSNV - 3/10
9-98011602-T-G FANCC c.1-29A>C - 5-UTRSNV 2/15 -
9-5050910-C-T JAK2 c.614+79C>T - IntronicSNV - 6/24
16-359953-A-G AXIN1 c.1116+20T>C - IntronicSNV - 4/10
3-14208630-G-A XPC c.621+39C>T - IntronicSNV - 5/15
13-48881617-T-C RB1 c.264+75T>C - IntronicSNV - 2/26
8-48739440-C-A PRKDC c.8575-18G>T - intron_variant - 63/86
20-36022539-T-A SRC c.450-38T>A - IntronicSNV - 6/13
20-36022539-T-C SRC c.450-38T>C - IntronicSNV - 6/13
2-128046233-T-C ERCC3 c.1027+3A>G - IntronicSNV - 7/14
X-77041501-C-T ATRX c.1-14G>A - 5-UTRSNV 1/35 -
11-125525276-T-G CHEK1 c.*61T>G - 3-UTRSNV 13/13 -
8-48772414-C-T PRKDC c.6056-94G>A - intron_variant - 46/86
4-55147769-C-T PDGFRA c.2323+1120C>T - IntronicSNV - 16/22
15-40453380-A-G BUB1B c.1-42A>G - 5-UTRSNV 1/23 -
16-89845197-G-A FANCA c.1826+12C>T - IntronicSNV - 20/42
5-56176645-T-G MAP3K1 c.2179+16T>G - IntronicSNV - 12/19
17-29664645-T-A NF1 c.6642+45T>A - IntronicSNV - 43/57
8-48868388-A-T PRKDC c.399+46T>A - IntronicSNV - 4/86
8-30946403-C-A WRN c.1577-3C>A - IntronicSNV - 12/34
8-30946403-C-T WRN c.1577-3C>T - IntronicSNV - 12/34
3-38182398-T-C MYD88 c.736+59T>C - intron_variant - 4/4
16-89805970-C-G FANCA c.3935-9G>C - IntronicSNV - 39/42
16-89805970-C-T FANCA c.3935-9G>A - IntronicSNV - 39/42
1-156785613-A-G SH2D2A c.123+185T>C - IntronicSNV - 2/8
7-55238253-G-A EGFR c.1881-615G>A - IntronicSNV - 15/27
7-55238253-G-C EGFR c.1881-615G>C - IntronicSNV - 15/27
7-55238253-G-T EGFR c.1881-615G>T - IntronicSNV - 15/27
11-108099898-C-T ATM c.186-7C>T - IntronicSNV - 3/62
17-37873794-C-T ERBB2 c.1898+61C>T - IntronicSNV - 15/26
17-41197659-G-A BRCA1 c.*36C>T - 3-UTRSNV 23/23 -
17-41197659-G-C BRCA1 c.*36C>G - 3-UTRSNV 23/23 -
19-11170577-G-T SMARCA4 c.4768+16G>T - IntronicSNV - 33/34
19-45867676-C-A ERCC2 c.718+6G>T - IntronicSNV - 8/22
8-48776189-C-T PRKDC c.5569-51G>A - intron_variant - 42/86
19-11123622-C-A SMARCA4 c.2275-3C>A - IntronicSNV - 15/34
19-11123622-C-T SMARCA4 c.2275-3C>T - IntronicSNV - 15/34
1-45798510-T-C MUTYH c.421-4A>G - IntronicSNV - 6/15
9-5081910-A-T JAK2 c.2571+49A>T - IntronicSNV - 19/24
19-45854817-G-A ERCC2 c.*70C>T - 3-UTRSNV 23/23 -
20-36024560-C-G SRC c.554-5C>G - IntronicSNV - 7/13
20-36024560-C-T SRC c.554-5C>T - IntronicSNV - 7/13
10-123353213-A-C FGFR2 c.109+10T>G - IntronicSNV - 2/17
17-29663499-C-G NF1 c.6147+8C>G - IntronicSNV - 41/57
17-29663499-C-T NF1 c.6147+8C>T - IntronicSNV - 41/57
17-29509520-A-C NF1 c.731-6A>C - IntronicSNV - 7/57
9-135804266-G-A TSC1 c.1-7C>T - 5-UTRSNV 3/23 -
9-135804266-G-C TSC1 c.1-7C>G - 5-UTRSNV 3/23 -
9-135802555-C-T TSC1 c.210+33G>A - IntronicSNV - 4/22
16-2134221-C-T TSC2 c.4006-8C>T - IntronicSNV - 33/41
16-2125788-C-T TSC2 c.2546-12C>T - IntronicSNV - 22/41
16-2105400-C-T TSC2 c.482-3C>T - IntronicSNV - 5/41
16-2125937-C-A TSC2 c.2639+44C>A - IntronicSNV - 23/41
16-2125937-C-G TSC2 c.2639+44C>G - IntronicSNV - 23/41
16-2125937-C-T TSC2 c.2639+44C>T - IntronicSNV - 23/41
16-2115506-C-A TSC2 c.1600-14C>A - IntronicSNV - 15/41
16-2115506-C-T TSC2 c.1600-14C>T - IntronicSNV - 15/41
16-2124416-G-A TSC2 c.2545+26G>A - IntronicSNV - 22/41
16-2125769-G-A TSC2 c.2546-31G>A - IntronicSNV - 22/41
17-41201130-A-G BRCA1 c.5406+8T>C - IntronicSNV - 21/22
17-29508699-T-C NF1 c.655-29T>C - IntronicSNV - 6/57
16-2138398-C-T TSC2 c.5260-49C>T - IntronicSNV - 41/41
17-29677357-A-G NF1 c.7457+21A>G - IntronicSNV - 50/57
17-29677357-A-T NF1 c.7457+21A>T - IntronicSNV - 50/57
17-29683646-G-A NF1 c.7738+46G>A - IntronicSNV - 52/57
17-29685660-G-A NF1 c.8113+20G>A - IntronicSNV - 55/57
17-29556837-T-C NF1 c.2851-16T>C - IntronicSNV - 21/57
6-35426041-G-A FANCE c.970-33G>A - IntronicSNV - 4/9
3-14208647-C-T XPC c.621+22G>A - IntronicSNV - 5/15
3-14201352-T-C XPC c.901-22A>G - IntronicSNV - 7/15
3-14189577-A-G XPC c.2421-76T>C - IntronicSNV - 13/15
2-128037999-C-T ERCC3 c.1527+24G>A - IntronicSNV - 9/14
4-1805388-G-A FGFR3 c.931-31G>A - IntronicSNV - 7/17
1-115251319-C-T NRAS c.451-44G>A - IntronicSNV - 4/6
2-29416037-C-G ALK c.*53G>C - 3-UTRSNV 29/29 -
2-29416794-G-A ALK c.4165-6C>T - IntronicSNV - 28/28
2-29416027-T-C ALK c.*63A>G - 3-UTRSNV 29/29 -
2-29432776-T-C ALK c.3744-32A>G - IntronicSNV - 24/28
2-29432625-C-A ALK c.3836+27G>T - IntronicSNV - 25/28
2-29432625-C-T ALK c.3836+27G>A - IntronicSNV - 25/28
2-29445157-G-C ALK c.3515+53C>G - IntronicSNV - 22/28
2-29445157-G-T ALK c.3515+53C>A - IntronicSNV - 22/28
2-29541299-C-A ALK c.1547-29G>T - IntronicSNV - 7/28
2-29541299-C-T ALK c.1547-29G>A - IntronicSNV - 7/28
17-7576501-G-A TP53 c.993+352C>T - IntronicSNV - 9/10
2-29755003-C-T ALK c.953-21G>A - IntronicSNV - 3/28
17-41216021-G-A BRCA1 c.5075-53C>T - IntronicSNV - 16/22
7-55237977-T-C EGFR c.1881-891T>C - IntronicSNV - 15/27
7-55240882-G-A EGFR c.2061+65G>A - IntronicSNV - 17/27
7-55260440-C-T EGFR c.2626-19C>T - IntronicSNV - 21/27
7-55270120-A-G EGFR c.3163-90A>G - IntronicSNV - 26/27
5-112101970-T-C APC c.136-53T>C - IntronicSNV - 2/15
7-140477756-C-G BRAF c.1517+35G>C - IntronicSNV - 12/17
11-108214176-A-G ATM c.8418+78A>G - IntronicSNV - 57/62
12-121437234-A-G HNF1A c.1623+42A>G - IntronicSNV - 8/9
19-11169069-A-G SMARCA4 c.4533+30A>G - IntronicSNV - 31/34
2-29445192-G-A ALK c.3515+18C>T - IntronicSNV - 22/28
3-14193818-C-A XPC c.2115+17G>T - IntronicSNV - 11/15
7-148510993-A-G EZH2 c.1851+58T>C - IntronicSNV - 15/19
17-7578507-G-C TP53 c.423C>G p.C141W Missense 5/11 -
17-37883554-G-A ERBB2 c.3166G>A p.G1056S Missense 26/27 -
17-41246014-G-A BRCA1 c.1534C>T p.L512F Missense 10/23 -
1-11187728-T-C MTOR c.6169A>G p.M2057V Missense 44/58 -
1-27105880-C-G ARID1A c.5491C>G p.L1831V Missense 20/20 -
3-142216021-A-G ATR c.5572T>C p.C1858R Missense 33/47 -
3-142203998-C-T ATR c.6205G>A p.V2069I Missense 36/47 -
16-347063-C-T AXIN1 c.1948G>A p.G650S Missense 7/11 -
8-48817516-C-G PRKDC c.2955G>C p.E985D Missense 26/87 -
8-48826575-C-G PRKDC c.2667G>C p.E889D Missense 24/87 -
11-108158399-A-G ATM c.4066A>G p.N1356D Missense 27/63 -
11-108117799-G-A ATM c.1010G>A p.R337H Missense 8/63 -
11-108201023-T-C ATM c.7390T>C p.C2464R Missense 50/63 -
11-108203619-C-T ATM c.7919C>T p.T2640I Missense 53/63 -
12-56487212-G-A ERBB3 c.1358G>A p.R453H Missense 12/28 -
12-56478809-G-A ERBB3 c.265G>A p.V89M Missense 3/28 -
12-56487628-C-T ERBB3 c.1561C>T p.R521* Nonsense 13/28 -
13-32929047-G-C BRCA2 c.7057G>C p.G2353R Missense 14/27 -
19-40742255-T-C AKT2 c.869A>G p.K290R Missense 10/14 -
17-41247921-C-G BRCA1 c.612G>C p.L204F Missense 9/23 -
14-68353893-A-G RAD51B c.728A>G p.K243R Missense 7/11 -
8-145742480-G-A RECQL4 c.308C>T p.P103L Missense 4/22 -
1-45798151-C-T MUTYH c.616G>A p.V206M Missense 9/16 -
8-48792169-A-T PRKDC c.5117T>A p.L1706Q Missense 40/87 -
11-108218045-A-G ATM c.8624A>G p.N2875S Missense 59/63 -
17-41245683-G-A BRCA1 c.1865C>T p.A622V Missense 10/23 -
17-7577082-C-G TP53 c.856G>C p.E286Q Missense 8/11 -
3-178922363-T-C PIK3CA c.1132T>C p.C378R Missense 6/21 -
10-89692935-T-A PTEN c.419T>A p.L140* Nonsense 5/9 -
19-11170839-T-C SMARCA4 c.4887T>C p.D1629= Synonymous 34/35 -
17-47696643-A-C SPOP c.305T>G p.F102C Missense 4/10 -
17-47696430-C-G SPOP c.393G>C p.W131C Missense 5/10 -
17-47696426-A-T SPOP c.397T>A p.F133I Missense 5/10 -
17-47696426-A-G SPOP c.397T>C p.F133L Missense 5/10 -
17-47696424-G-T SPOP c.399C>A p.F133L Missense 5/10 -
17-47696424-G-C SPOP c.399C>G p.F133L Missense 5/10 -
17-47696689-A-T SPOP c.259T>A p.Y87N Missense 4/10 -
17-47696425-A-G SPOP c.398T>C p.F133S Missense 5/10 -
17-47696688-T-G SPOP c.260A>C p.Y87S Missense 4/10 -
17-47696644-A-C SPOP c.304T>G p.F102V Missense 4/10 -
2-29416698-C-T ALK c.4255G>A p.E1419K Missense 29/29 -
17-7579361-A-C TP53 c.326T>G p.F109C Missense 4/11 -
17-7577117-A-G TP53 c.821T>C p.V274A Missense 8/11 -
17-7577095-G-A TP53 c.843C>T p.D281= Synonymous 8/11 -
17-7579355-A-C TP53 c.332T>G p.L111R Missense 4/11 -
17-7577579-G-C TP53 c.702C>G p.Y234* Nonsense 7/11 -
3-14197884-C-T XPC c.1984G>A p.E662K Missense 10/16 -
8-48710957-A-G PRKDC c.10298T>C p.I3433T Missense 74/87 -
2-48030692-T-A MSH6 c.3306T>A p.T1102= Synonymous 5/10 -
7-116339672-C-T MET c.534C>T p.S178= Synonymous 2/21 -
3-14220023-G-C XPC c.46C>G p.L16V Missense 1/16 -
5-79966029-G-A MSH3 c.693G>A p.P231= Synonymous 4/24 -
1-120611964-G-C NOTCH2 c.57C>G p.C19W Missense 1/34 -
11-108196269-C-T ATM c.6805C>T p.Q2269* Nonsense 46/63 -
1-2494330-G-A TNFRSF14 c.721G>A p.V241I Missense 7/8 -
10-50738781-T-C ERCC6 c.528A>G p.R176= Synonymous 3/21 -
16-23646191-T-C PALB2 c.1676A>G p.Q559R Missense 4/13 -
1-120468425-G-A NOTCH2 c.4014C>T p.S1338= Synonymous 25/34 -
2-39507417-T-A MAP4K3 c.1710A>T p.T570= Synonymous 23/34 -
17-33445549-G-A RAD51D c.234C>T p.S78= Synonymous 3/10 -
17-29661926-G-A NF1 c.5883G>A p.K1961= Synonymous 40/58 -
9-139401233-C-T NOTCH1 c.3836G>A p.R1279H Missense 23/34 -
16-23635370-C-T PALB2 c.2794G>A p.V932M Missense 8/13 -
5-56178111-A-G MAP3K1 c.3084A>G p.Q1028= Synonymous 14/20 -
1-120458924-G-A NOTCH2 c.6421C>T p.L2141= Synonymous 34/34 -
2-29445471-C-T ALK c.3362G>A p.G1121D Missense 21/29 -
2-29497967-G-A ALK c.2039C>T p.T680I Missense 11/29 -
2-29543736-A-G ALK c.1427T>C p.V476A Missense 7/29 -
1-120458270-G-C NOTCH2 c.7075C>G p.P2359A Missense 34/34 -
11-108129778-C-A ATM c.2442C>A p.D814E Missense 16/63 -
11-108150316-A-G ATM c.3383A>G p.Q1128R Missense 23/63 -
3-10089658-C-G FANCD2 c.1336C>G p.L446V Missense 16/44 -
5-67589188-C-T PIK3R1 c.1176C>T p.F392= Synonymous 10/16 -
1-2491306-G-A TNFRSF14 c.349G>A p.A117T Missense 4/8 -
12-46244670-A-G ARID2 c.2764A>G p.T922A Missense 15/21 -
13-103506690-G-A BIVM-ERCC5 c.1795G>A p.V599I Missense 12/23 -
4-55133806-G-A PDGFRA c.1019G>A p.R340Q Missense 7/23 -
14-45636328-A-G FANCM c.1964A>G p.N655S Missense 11/23 -
14-45658449-A-G FANCM c.5224A>G p.I1742V Missense 20/23 -
14-75515101-C-T MLH3 c.1258G>A p.V420I Missense 2/13 -
14-75513142-C-T MLH3 c.3217G>A p.D1073N Missense 2/13 -
14-75513826-T-C MLH3 c.2533A>G p.S845G Missense 2/13 -
14-75513463-A-G MLH3 c.2896T>C p.S966P Missense 2/13 -
14-75516351-T-C MLH3 c.8A>G p.K3R Missense 2/13 -
17-63554307-A-G AXIN2 c.432T>C p.I144= Synonymous 2/11 -
5-56177843-C-G MAP3K1 c.2816C>G p.S939C Missense 14/20 -
5-112178112-C-T APC c.6821C>T p.A2274V Missense 16/16 -
15-91292917-A-G BLM c.419A>G p.E140G Missense 3/22 -
16-2110795-G-A TSC2 c.1100G>A p.R367Q Missense 11/42 -
16-14015897-A-G ERCC4 c.217A>G p.I73V Missense 2/11 -
16-89805301-G-C FANCA c.4249C>G p.H1417D Missense 42/43 -
16-68855966-G-A CDH1 c.1774G>A p.A592T Missense 12/16 -
19-4099272-G-A MAP2K2 c.846C>T p.P282= Synonymous 7/11 -
5-112175617-T-A APC c.4326T>A p.P1442= Synonymous 16/16 -
5-112154722-G-A APC c.993G>A p.S331= Synonymous 10/16 -
10-50708598-A-G ERCC6 c.1671T>C p.R557= Synonymous 7/21 -
10-89692906-A-G PTEN c.390A>G p.R130= Synonymous 5/9 -
10-89692921-A-T PTEN c.405A>T p.I135= Synonymous 5/9 -
10-89692936-A-G PTEN c.420A>G p.L140= Synonymous 5/9 -
12-25380239-C-T KRAS c.219G>A p.R73= Synonymous 3/5 -
12-25380332-C-T KRAS c.126G>A p.K42= Synonymous 3/5 -
12-25380344-A-G KRAS c.114T>C p.D38= Synonymous 3/5 -
17-29490302-G-A NF1 c.387G>A p.Q129= Synonymous 4/58 -
17-29490311-T-C NF1 c.396T>C p.A132= Synonymous 4/58 -
17-29687678-T-C NF1 c.8334T>C p.L2778= Synonymous 57/58 -
17-37686906-C-T CDK12 c.3810C>T p.P1270= Synonymous 14/14 -
17-37686978-C-T CDK12 c.3882C>T p.N1294= Synonymous 14/14 -
15-40504837-C-T BUB1B c.2523C>T p.C841= Synonymous 19/23 -
15-91354520-C-T BLM c.3960C>T p.P1320= Synonymous 21/22 -
7-148512091-A-G EZH2 c.1587T>C p.D529= Synonymous 14/20 -
17-56798128-A-G RAD51C c.859A>G p.T287A Missense 6/9 -
3-41266971-C-T CTNNB1 c.642C>T p.T214= Synonymous 5/15 -
4-1803385-G-C FGFR3 c.654G>C p.V218= Synonymous 6/18 -
6-138202378-C-T TNFAIP3 c.2295C>T p.P765= Synonymous 9/9 -
X-76949410-C-T ATRX c.387G>A p.Q129= Synonymous 6/35 -
17-63533539-C-T AXIN2 c.1615G>A p.V539M Missense 6/11 -
7-6026685-G-T PMS2 c.1711C>A p.L571I Missense 11/15 -
9-139390958-T-C NOTCH1 c.7233A>G p.P2411= Synonymous 34/34 -
9-139391543-C-T NOTCH1 c.6648G>A p.P2216= Synonymous 34/34 -
9-139408964-G-A NOTCH1 c.2205C>T p.N735= Synonymous 13/34 -
8-90965828-T-C NBN c.1489A>G p.T497A Missense 11/16 -
13-103515288-G-C ERCC5 c.1789G>C p.V597L Missense 8/15 -
8-145737701-C-G RECQL4 c.3062G>C p.R1021P missense_variant 19/22 -
8-145737701-C-T RECQL4 c.3062G>A p.R1021Q missense_variant 19/22 -
9-5126715-A-G JAK2 c.3323A>G p.N1108S Missense 25/25 -
10-43620335-C-T RET c.2944C>T p.R982C Missense 18/20 -
1-11184593-A-G MTOR c.6624T>C p.L2208= Synonymous 47/58 -
11-22646532-C-T FANCF c.825G>A p.L275= Synonymous 1/1 -
9-139391338-C-T NOTCH1 c.6853G>A p.V2285I Missense 34/34 -
1-120468201-A-T NOTCH2 c.4238T>A p.L1413H Missense 25/34 -
1-120465339-T-G NOTCH2 c.4922A>C p.K1641T Missense 27/34 -
9-139400219-G-A NOTCH1 c.4129C>T p.P1377S Missense 25/34 -
1-156838432-C-T NTRK1 c.710C>T p.T237M Missense 6/17 -
6-35426175-C-T FANCE c.1071C>T p.L357= Synonymous 5/10 -
8-145740375-C-T RECQL4 c.1565G>A p.R522H Missense 9/22 -
2-212576777-A-C ERBB4 c.1122T>G p.H374Q Missense 9/28 -
8-145737705-C-T RECQL4 c.3058G>A p.V1020M missense_variant,splice_region_variant 19/22 -
17-37865629-G-A ERBB2 c.498G>A p.T166= Synonymous 4/27 -
2-39519957-C-T MAP4K3 c.1228G>A p.A410T Missense 18/34 -
2-39553351-C-A MAP4K3 c.598G>T p.V200L Missense 9/34 -
17-29559110-A-G NF1 c.3217A>G p.M1073V Missense 25/58 -
17-29560021-C-T NF1 c.3498C>T p.G1166= Synonymous 27/58 -
1-120458122-A-T NOTCH2 c.7223T>A p.L2408H Missense 34/34 -
10-123325169-C-T FGFR2 c.159G>A p.A53= Synonymous 3/18 -
16-2112521-C-A TSC2 c.1281C>A p.I427= Synonymous 13/42 -
X-76938153-G-C ATRX c.2595C>G p.H865Q Missense 9/35 -
17-29587482-G-A NF1 c.4526G>A p.R1509H Missense 34/58 -
17-29670033-G-A NF1 c.7069G>A p.E2357K Missense 48/58 -
17-29496957-T-A NF1 c.528T>A p.D176E Missense 5/58 -
17-29533260-C-T NF1 c.1263C>T p.S421= Synonymous 12/58 -
9-135772681-G-A TSC1 c.2865C>T p.T955= Synonymous 22/23 -
9-135772977-G-A TSC1 c.2646C>T p.A882= Synonymous 21/23 -
16-2110805-G-A TSC2 c.1110G>A p.Q370= Synonymous 11/42 -
16-2121869-C-T TSC2 c.2031C>T p.P677= Synonymous 19/42 -
16-2136842-C-T TSC2 c.4959C>T p.S1653= Synonymous 38/42 -
16-2131729-C-T TSC2 c.3744C>T p.A1248= Synonymous 31/42 -
16-2133727-G-A TSC2 c.3915G>A p.P1305= Synonymous 33/42 -
16-2129045-G-A TSC2 c.2979G>A p.T993= Synonymous 27/42 -
16-2134994-C-T TSC2 c.4536C>T p.D1512= Synonymous 35/42 -
17-29483108-C-T NF1 c.168C>T p.S56= Synonymous 2/58 -
17-29559871-C-T NF1 c.3468C>T p.N1156= Synonymous 26/58 -
17-29653237-G-A NF1 c.5235G>A p.K1745= Synonymous 37/58 -
16-2138584-G-C TSC2 c.5397G>C p.S1799= Synonymous 42/42 -
16-2103392-A-T TSC2 c.275A>T p.E92V Missense 4/42 -
1-27099886-G-A ARID1A c.3765G>A p.G1255= Synonymous 15/20 -
17-37627837-G-T CDK12 c.1752G>T p.L584F Missense 2/14 -
2-30142900-C-T ALK c.626G>A p.R209H Missense 1/29 -
17-7576870-C-A TP53 c.976G>T p.E326* Nonsense 9/11 -
8-90971012-G-A NBN c.1065C>T p.S355= Synonymous 9/16 -
10-89717713-G-A PTEN c.738G>A p.P246= Synonymous 7/9 -
11-108106476-C-T ATM c.411C>T p.Y137= Synonymous 5/63 -
11-108114792-C-T ATM c.609C>T p.D203= Synonymous 6/63 -
11-108151787-G-A ATM c.3468G>A p.T1156= Synonymous 24/63 -
11-108172386-G-A ATM c.5189G>A p.R1730Q Missense 35/63 -
13-32913027-G-A BRCA2 c.4535G>A p.R1512H Missense 11/27 -
13-32913691-C-T BRCA2 c.5199C>T p.S1733= Synonymous 11/27 -
13-32953617-G-A BRCA2 c.8918G>A p.R2973H Missense 22/27 -
16-68862117-G-A CDH1 c.2205G>A p.A735= Synonymous 14/16 -
16-68867396-C-T CDH1 c.2643C>T p.D881= Synonymous 16/16 -
17-29585418-C-T NF1 c.4230C>T p.F1410= Synonymous 32/58 -
2-47702178-A-G MSH2 c.1774A>G p.M592V Missense 12/16 -
17-29687516-T-C NF1 c.8172T>C p.I2724= Synonymous 57/58 -
17-41222972-C-T BRCA1 c.4959G>A p.V1653= Synonymous 15/23 -
17-41226379-C-T BRCA1 c.4644G>A p.T1548= Synonymous 14/23 -
15-91354521-G-A BLM c.3961G>A p.V1321I Missense 21/22 -
5-112174456-A-T APC c.3165A>T p.I1055= Synonymous 16/16 -
X-14877404-C-T FANCB c.1004G>A p.G335E Missense 4/10 -
19-1223170-C-T STK11 c.1107C>T p.P369= Synonymous 8/10 -
8-90970988-G-A NBN c.1089C>T p.Y363= Synonymous 9/16 -
8-90982685-G-A NBN c.803C>T p.T268M Missense 7/16 -
17-7578502-A-C TP53 c.428T>G p.V143G Missense 5/11 -
19-11118620-C-G SMARCA4 c.2044C>G p.L682V Missense 14/35 -
13-32914782-C-T BRCA2 c.6290C>T p.T2097M Missense 11/27 -
2-48028084-C-T MSH6 c.2962C>T p.R988C Missense 4/10 -
8-30948045-A-G WRN c.1717A>G p.T573A Missense 14/35 -
16-68867356-G-A CDH1 c.2603G>A p.R868H Missense 16/16 -
10-50667120-T-G ERCC6 c.4223A>C p.E1408A Missense 21/21 -
17-29562787-C-T NF1 c.3867C>T p.F1289= Synonymous 28/58 -
17-29585493-C-T NF1 c.4305C>T p.I1435= Synonymous 32/58 -
17-29663880-G-A NF1 c.6375G>A p.L2125= Synonymous 42/58 -
8-145741787-G-A RECQL4 c.716C>T p.A239V Missense 5/22 -
17-63554469-G-A AXIN2 c.270C>T p.D90= Synonymous 2/11 -
2-29416168-G-A ALK c.4785C>T p.A1595= Synonymous 29/29 -
4-1803409-C-T FGFR3 c.678C>T p.Y226= Synonymous 6/18 -
19-1207176-C-A STK11 c.264C>A p.I88= Synonymous 1/10 -
19-1223090-G-A STK11 c.1027G>A p.D343N Missense 8/10 -
1-11270903-G-A MTOR c.3622C>T p.R1208C Missense 24/58 -
22-29083950-G-A CHEK2 c.1567C>T p.R523C Missense 15/15 -
11-108106428-A-G ATM c.363A>G p.L121= Synonymous 5/63 -
17-56772522-G-A RAD51C c.376G>A p.A126T Missense 2/9 -
17-41243703-T-A BRCA1 c.3845A>T p.E1282V Missense 10/23 -
17-41246547-G-A BRCA1 c.1001C>T p.P334L Missense 10/23 -
17-41247872-C-A BRCA1 c.661G>T p.A221S Missense 9/23 -
13-32900409-A-G BRCA2 c.506A>G p.K169R Missense 6/27 -
13-32906471-T-C BRCA2 c.856T>C p.S286P Missense 10/27 -
13-32906571-A-G BRCA2 c.956A>G p.N319S Missense 10/27 -
13-32907129-T-C BRCA2 c.1514T>C p.I505T Missense 10/27 -
13-32911479-T-G BRCA2 c.2987T>G p.L996R Missense 11/27 -
13-32912582-A-C BRCA2 c.4090A>C p.I1364L Missense 11/27 -
3-37053550-G-A MLH1 c.637G>A p.V213M Missense 8/19 -
3-37090471-A-G MLH1 c.2066A>G p.Q689R Missense 18/19 -
2-47635645-G-A MSH2 c.317G>A p.R106K Missense 2/16 -
2-47637365-G-C MSH2 c.499G>C p.D167H Missense 3/16 -
2-47698172-T-C MSH2 c.1730T>C p.I577T Missense 11/16 -
16-23646857-A-G PALB2 c.1010T>C p.L337S Missense 4/13 -
16-23647238-G-A PALB2 c.629C>T p.P210L Missense 4/13 -
16-23649446-T-C PALB2 c.53A>G p.K18R Missense 2/13 -
7-6026530-C-T PMS2 c.1866G>A p.M622I Missense 11/15 -
7-6026708-C-A PMS2 c.1688G>T p.R563L Missense 11/15 -
7-6026787-C-T PMS2 c.1609G>A p.E537K Missense 11/15 -
7-6026864-G-A PMS2 c.1532C>T p.T511M Missense 11/15 -
7-6026952-T-C PMS2 c.1444A>G p.S482G Missense 11/15 -
7-6043673-G-C PMS2 c.180C>G p.D60E Missense 3/15 -
7-6045634-T-C PMS2 c.52A>G p.I18V Missense 2/15 -
7-148512065-G-A EZH2 c.1613C>T p.S538L Missense 14/20 -
10-89711894-A-G PTEN c.512A>G p.Q171R Missense 6/9 -
2-29416615-G-A ALK c.4338C>T p.T1446= Synonymous 29/29 -
17-41267787-C-T BRCA1 c.90G>A p.L30= Synonymous 3/23 -
17-41219711-A-G BRCA1 c.4988T>C p.M1663T Missense 16/23 -
17-7578392-C-A TP53 c.538G>T p.E180* Nonsense 5/11 -
11-32450063-A-T WT1 c.749T>A p.M255K Missense 2/10 -
9-135781163-G-A TSC1 c.1802C>T p.P601L Missense 15/23 -
7-148543625-T-C EZH2 c.183A>G p.K61= Synonymous 3/20 -
17-7577521-T-A TP53 c.760A>T p.I254F Missense 7/11 -
17-33433487-C-T RAD51D c.494G>A p.R165Q Missense 6/10 -
15-40468681-C-T BUB1B c.388C>T p.R130C Missense 5/23 -
5-131923710-G-A RAD50 c.980G>A p.R327H Missense 7/25 -
17-7578415-A-C TP53 c.515T>G p.V172G Missense 5/11 -
13-48919281-C-G RB1 c.446C>G p.S149* Nonsense 4/27 -
17-7578205-C-G TP53 c.644G>C p.S215T Missense 6/11 -
2-48027375-T-C MSH6 c.2253T>C p.N751= Synonymous 4/10 -
17-7579328-T-C TP53 c.359A>G p.K120R Missense 4/11 -
17-29490208-C-T NF1 c.293C>T p.P98L Missense 4/58 -
4-1803251-T-C FGFR3 c.603T>C p.I201= Synonymous 5/18 -
4-55133886-G-A PDGFRA c.1099G>A p.V367M Missense 7/23 -
17-37619281-C-A CDK12 c.957C>A p.Y319* Nonsense 1/14 -
2-29416200-C-T ALK c.4753G>A p.G1585S Missense 29/29 -
17-37627889-C-T CDK12 c.1804C>T p.Q602* Nonsense 2/14 -
10-50690906-G-A ERCC6 c.1996C>T p.R666C Missense 10/21 -
13-103520565-A-G ERCC5 c.2636A>G p.N879S Missense 12/15 -
16-14041570-T-C ERCC4 c.2117T>C p.I706T Missense 11/11 -
13-103518693-G-A ERCC5 c.2281G>A p.A761T Missense 10/15 -
8-145739833-A-G RECQL4 c.1697T>C p.L566P Missense 10/22 -
1-45797139-G-A MUTYH c.1192C>T p.R398C Missense 13/16 -
19-45856059-C-G ERCC2 c.1847G>C p.R616P Missense 20/23 -
2-128016978-G-A ERCC3 c.2111C>T p.S704L Missense 14/15 -
10-50680422-C-T ERCC6 c.2924G>A p.R975Q Missense 16/21 -
10-50682281-G-C ERCC6 c.2390C>G p.S797C Missense 13/21 -
10-50667229-C-T ERCC6 c.4114G>A p.G1372R Missense 21/21 -
10-50740716-C-T ERCC6 c.295G>A p.V99I Missense 2/21 -
16-14029352-C-G ERCC4 c.1563C>G p.S521R Missense 8/11 -
8-145741247-C-T RECQL4 c.1159G>A p.G387R Missense 6/22 -
3-14200206-G-A XPC c.1177C>T p.R393W Missense 9/16 -
16-14042077-A-G ERCC4 c.2624A>G p.E875G Missense 11/11 -
13-103524687-G-A ERCC5 c.2818G>A p.V940M Missense 13/15 -
2-128046416-G-A ERCC3 c.847C>T p.R283C Missense 7/15 -
8-145736820-G-A RECQL4 c.3622C>T p.R1208C Missense 22/22 -
8-145736820-G-C RECQL4 c.3622C>G p.R1208G Missense 22/22 -
6-138192745-G-A TNFAIP3 c.295+86G>A - IntronicSNV - 2/8
3-10183876-G-C VHL c.340+5G>C - IntronicSNV - 1/2
X-66942625-G-A AR c.2450-44G>A - IntronicSNV - 6/7
4-1807915-G-C FGFR3 c.1959+15G>C - IntronicSNV - 14/17
4-1807922-G-A FGFR3 c.1959+22G>A - IntronicSNV - 14/17
17-41258450-A-T BRCA1 c.212+23T>A - IntronicSNV - 4/22
13-32899354-A-G BRCA2 c.425+33A>G - IntronicSNV - 4/26
2-212989410-G-C ERBB4 c.234+67C>G - IntronicSNV - 2/27
6-138197329-C-T TNFAIP3 c.805+26C>T - IntronicSNV - 5/8
6-138196817-C-G TNFAIP3 c.487-8C>G - IntronicSNV - 3/8
6-138196817-C-T TNFAIP3 c.487-8C>T - IntronicSNV - 3/8
8-90955655-T-A NBN c.2071-61A>T - IntronicSNV - 13/15
13-32932072-C-G BRCA2 c.7805+6C>G - IntronicSNV - 16/26
2-128015143-G-A ERCC3 c.*29C>T - 3-UTRSNV 15/15 -
16-89815049-T-C FANCA c.3348+18A>G - IntronicSNV - 33/42
16-89815038-G-A FANCA c.3348+29C>T - IntronicSNV - 33/42
16-89836899-T-C FANCA c.2222+73A>G - IntronicSNV - 24/42
16-89846397-A-G FANCA c.1627-32T>C - IntronicSNV - 17/42
13-32968810-T-C BRCA2 c.9257-16T>C - IntronicSNV - 24/26
16-23647713-T-G PALB2 c.212-58A>C - IntronicSNV - 3/12
10-43617518-A-T RET c.2801+54A>T - IntronicSNV - 16/19
9-139405093-G-T NOTCH1 c.2740+12C>A - IntronicSNV - 17/33
9-139405093-G-A NOTCH1 c.2740+12C>T - IntronicSNV - 17/33
9-139405093-G-C NOTCH1 c.2740+12C>G - IntronicSNV - 17/33
16-68842480-G-C CDH1 c.531+10G>C - IntronicSNV - 4/15
5-112116632-C-T APC c.645+32C>T - IntronicSNV - 6/15
13-48916887-A-G RB1 c.380+37A>G - IntronicSNV - 3/26
13-48916862-T-C RB1 c.380+12T>C - IntronicSNV - 3/26
9-139417689-G-A NOTCH1 c.404-49C>T - IntronicSNV - 3/33
9-139417689-G-T NOTCH1 c.404-49C>A - IntronicSNV - 3/33
9-139405530-C-T NOTCH1 c.2587+74G>A - IntronicSNV - 16/33
9-139393307-A-G NOTCH1 c.6180+44T>C - IntronicSNV - 33/33
9-139399641-G-A NOTCH1 c.4587-85C>T - IntronicSNV - 25/33
11-32410516-T-C WT1 c.*88A>G - 3-UTRSNV 10/10 -
17-7578146-T-C TP53 c.672+31A>G - IntronicSNV - 6/10
14-104165682-A-C XRCC3 c.774+19T>G - IntronicSNV - 8/9
10-43606650-C-G RET c.1264-5C>G - IntronicSNV - 6/19
10-43606650-C-T RET c.1264-5C>T - IntronicSNV - 6/19
16-14020382-C-G ERCC4 c.389-36C>G - IntronicSNV - 2/10
2-47656871-T-C MSH2 c.1077-10T>C - IntronicSNV - 6/15
2-48032033-C-T MSH6 c.3439-16C>T - IntronicSNV - 5/9
1-45797255-G-A MUTYH c.1103-27C>T - IntronicSNV - 12/15
1-45796115-G-A MUTYH c.1434+73C>T - IntronicSNV - 15/15
10-43612225-G-C RET c.2284+46G>C - IntronicSNV - 12/19
9-21974640-C-G CDKN2A c.150+37G>C - IntronicSNV - 1/2
10-123263478-C-G FGFR2 c.1288-23G>C - IntronicSNV - 9/17
2-212495342-A-AT ERBB4 c.1947-24_1947-23insA - IntronicInsertion - 16/27
1-11273418-T-G MTOR c.3285+38A>C - IntronicSNV - 21/57
14-104165411-G-A XRCC3 c.822-57C>T - IntronicSNV - 9/9
14-104174825-G-A XRCC3 c.193+34C>T - IntronicSNV - 5/9
22-29121207-G-A CHEK2 c.444+24C>T - IntronicSNV - 3/14
13-32944713-A-G BRCA2 c.8487+19A>G - IntronicSNV - 19/26
11-32449486-C-T WT1 c.887+16G>A - intron_variant - 3/9
15-91354640-T-G BLM c.4076+4T>G - IntronicSNV - 21/21
8-145741142-T-A RECQL4 c.1258+6A>T - IntronicSNV - 6/21
8-145739817-G-A RECQL4 c.1704+9C>T - IntronicSNV - 10/21
8-145742172-C-G RECQL4 c.355-24G>C - IntronicSNV - 4/21
8-145742172-C-T RECQL4 c.355-24G>A - IntronicSNV - 4/21
2-212522651-A-G ERBB4 c.1872-98T>C - IntronicSNV - 15/27
13-32890726-T-G BRCA2 c.67+62T>G - IntronicSNV - 2/26
13-32890746-C-G BRCA2 c.67+82C>G - IntronicSNV - 2/26
5-112116729-A-C APC c.645+129A>C - IntronicSNV - 6/15
5-131927748-T-C RAD50 c.1793+22T>C - IntronicSNV - 11/24
14-68758575-T-C RAD51B c.757-26T>C - IntronicSNV - 7/10
13-32893207-T-A BRCA2 c.68-7T>A - IntronicSNV - 2/26
15-66729250-C-T MAP2K1 c.438+20C>T - IntronicSNV - 3/10
2-47703717-G-T MSH2 c.2210+7G>T - IntronicSNV - 13/15
16-14038659-T-C ERCC4 c.1984T>C p.S662P Missense 10/11 -
1-45795084-G-A MUTYH c.1460C>T p.S487F Missense 16/16 -
5-131911535-A-C RAD50 c.280A>C p.I94L Missense 3/25 -
19-11169514-C-T SMARCA4 c.4584C>T p.D1528= Synonymous 32/35 -
11-108121446-A-G ATM c.1254A>G p.Q418= Synonymous 10/63 -
19-45856521-G-A ERCC2 c.1737C>T p.V579= Synonymous 18/23 -
17-7578199-A-C TP53 c.650T>G p.V217G Missense 6/11 -
3-41267276-A-G CTNNB1 c.860A>G p.N287S Missense 6/15 -
10-89692803-C-G PTEN c.287C>G p.P96R Missense 5/9 -
16-23646295-T-C PALB2 c.1572A>G p.S524= Synonymous 4/13 -
3-178952020-C-T PIK3CA c.3075C>T p.T1025= Synonymous 21/21 -
17-33430313-T-C RAD51D c.698A>G p.E233G Missense 8/10 -
15-66774131-G-C MAP2K1 c.607G>C p.E203Q Missense 6/11 -
9-139409775-C-T NOTCH1 c.1981G>A p.G661S Missense 12/34 -
3-142281353-C-G ATR c.891G>C p.K297N Missense 4/47 -
3-142212029-C-A ATR c.6023G>T p.R2008L Missense 35/47 -
16-2138570-C-T TSC2 c.5383C>T p.R1795C Missense 42/42 -
1-120512303-G-A NOTCH2 c.939C>T p.G313= Synonymous 6/34 -
1-120469147-T-C NOTCH2 c.3980A>G p.D1327G Missense 24/34 -
1-120468134-C-T NOTCH2 c.4305G>A p.R1435= Synonymous 25/34 -
1-120459122-C-T NOTCH2 c.6223G>A p.V2075M Missense 34/34 -
4-55127448-G-A PDGFRA c.236G>A p.G79D Missense 3/23 -
13-32913178-A-G BRCA2 c.4686A>G p.Q1562= Synonymous 11/27 -
2-215593522-T-C BARD1 c.2212A>G p.I738V Missense 11/11 -
2-215595203-A-G BARD1 c.1933T>C p.C645R Missense 10/11 -
16-68845687-C-G CDH1 c.933C>G p.L311= Synonymous 7/16 -
16-68856088-C-T CDH1 c.1896C>T p.H632= Synonymous 12/16 -
16-89842176-C-G FANCA c.1874G>C p.C625S Missense 21/43 -
9-135772014-C-T TSC1 c.3103G>A p.G1035S Missense 23/23 -
13-49033906-G-A RB1 c.2043G>A p.W681* Nonsense 20/27 -
13-48939097-G-A RB1 c.929G>A p.G310E Missense 9/27 -
16-23649186-G-A PALB2 c.196C>T p.Q66* Nonsense 3/13 -
10-89720804-ACT-TAA PTEN c.955_957delACTinsTAA p.T319* Nonsense 8/9 -
19-4110537-G-A MAP2K2 c.420C>T p.D140= Synonymous 3/11 -
16-2129370-C-T TSC2 c.3225C>T p.T1075= Synonymous 28/42 -
8-145739679-G-A RECQL4 c.1772C>T p.P591L Missense 11/22 -
19-45855838-G-A ERCC2 c.1972C>T p.R658C Missense 21/23 -
12-121426830-C-T HNF1A c.521C>T p.A174V Missense 2/10 -
8-90993061-A-G NBN c.381T>C p.A127= Synonymous 4/16 -
3-37050325-C-T MLH1 c.474C>T p.N158= Synonymous 6/19 -
13-49033829-C-T RB1 c.1966C>T p.R656W Missense 20/27 -
2-48026286-C-T MSH6 c.1164C>T p.H388= Synonymous 4/10 -
8-30969236-C-T WRN c.2194C>T p.R732* Nonsense 19/35 -
3-10106539-C-G FANCD2 c.2148C>G p.T716= Synonymous 23/44 -
3-41274927-A-G CTNNB1 c.1177A>G p.T393A Missense 8/15 -
2-29445425-G-A ALK c.3408C>T p.S1136= Synonymous 21/29 -
7-148525904-C-G EZH2 c.553G>C p.D185H Missense 6/20 -
5-67593363-T-C PIK3R1 c.2109T>C p.L703= Synonymous 16/16 -
3-10089689-T-G FANCD2 c.1367T>G p.L456R Missense 16/44 -
17-29560226-C-T NF1 c.3703C>T p.Q1235* Nonsense 27/58 -
16-23646448-T-G PALB2 c.1419A>C p.P473= Synonymous 4/13 -
16-23646261-G-A PALB2 c.1606C>T p.L536= Synonymous 4/13 -
5-131915574-C-T RAD50 c.572C>T p.T191I Missense 5/25 -
17-41246479-T-G BRCA1 c.1069A>C p.K357Q Missense 10/23 -
16-23646673-C-T PALB2 c.1194G>A p.V398= Synonymous 4/13 -
11-94192599-G-T MRE11 c.1475C>A p.A492D Missense 13/20 -
2-48025764-C-G MSH6 c.642C>G p.Y214* Nonsense 4/10 -
2-48030632-G-T MSH6 c.3246G>T p.P1082= Synonymous 5/10 -
17-37872035-G-T ERBB2 c.1356G>T p.W452C Missense 12/27 -
17-37883685-A-G ERBB2 c.3297A>G p.Q1099= Synonymous 26/27 -
16-68867387-C-T CDH1 c.2634C>T p.G878= Synonymous 16/16 -
16-14042108-G-A ERCC4 c.2655G>A p.T885= Synonymous 11/11 -
7-6026827-G-C PMS2 c.1569C>G p.S523= Synonymous 11/15 -
15-40498503-T-C BUB1B c.1853T>C p.V618A Missense 15/23 -
10-89624242-A-G PTEN c.16A>G p.K6E Missense 1/9 -
16-89838086-C-A FANCA c.2151G>T p.M717I Missense 23/43 -
16-89833561-G-T FANCA c.2589C>A p.G863= Synonymous 27/43 -
16-89842220-T-C FANCA c.1830A>G p.A610= Synonymous 21/43 -
16-89805915-G-A FANCA c.3981C>T p.H1327= Synonymous 40/43 -
11-108172425-C-T ATM c.5228C>T p.T1743I Missense 35/63 -
9-97912337-C-T FANCC c.554G>A p.R185Q Missense 7/15 -
2-212295795-C-T ERBB4 c.2518G>A p.V840I Missense 21/28 -
15-91298049-A-G BLM c.968A>G p.K323R Missense 5/22 -
5-112102960-C-T APC c.295C>T p.R99W Missense 4/16 -
16-68835754-G-A CDH1 c.345G>A p.T115= Synonymous 3/16 -
16-68862204-C-T CDH1 c.2292C>T p.D764= Synonymous 14/16 -
16-68853297-G-C CDH1 c.1680G>C p.T560= Synonymous 11/16 -
5-112154971-C-A APC c.1242C>A p.R414= Synonymous 10/16 -
2-47703703-A-G MSH2 c.2203A>G p.I735V Missense 13/16 -
17-56787304-G-A RAD51C c.790G>A p.G264S Missense 5/9 -
17-56787287-G-A RAD51C c.773G>A p.R258H Missense 5/9 -
19-11097098-C-T SMARCA4 c.589C>T p.P197S Missense 4/35 -
2-215610562-C-T BARD1 c.1694G>A p.R565H Missense 8/11 -
3-10138069-T-G FANCD2 c.4098T>G p.L1366= Synonymous 42/44 -
13-48939088-C-T RB1 c.920C>T p.T307I Missense 9/27 -
11-108114840-T-C ATM c.657T>C p.C219= Synonymous 6/63 -
1-45796970-G-A MUTYH c.1276C>T p.Q426* Nonsense 14/16 -
7-55241704-C-A EGFR c.2152C>A p.L718M Missense 18/28 -
4-1806137-T-C FGFR3 c.1156T>C p.F386L Missense 9/18 -
5-112178805-G-A APC c.7514G>A p.R2505Q Missense 16/16 -
14-75513934-T-C MLH3 c.2425A>G p.M809V Missense 2/13 -
14-75514138-C-A MLH3 c.2221G>T p.V741F Missense 2/13 -
17-63533919-T-C AXIN2 c.1235A>G p.N412S Missense 6/11 -
7-55249057-C-G EGFR c.2355C>G p.T785= Synonymous 20/28 -
11-32421533-T-C WT1 c.1074A>G p.Q358Q synonymous_variant 6/10 -
1-120468211-G-A NOTCH2 c.4228C>T p.R1410C Missense 25/34 -
1-120548095-C-A NOTCH2 c.272G>T p.R91L Missense 3/34 -
1-120459251-G-T NOTCH2 c.6094C>A p.H2032N Missense 34/34 -
17-63530150-C-T AXIN2 c.2285G>A p.S762N Missense 10/11 -
1-120465262-C-T NOTCH2 c.4999G>A p.V1667I Missense 27/34 -
1-120458477-C-T NOTCH2 c.6868G>A p.E2290K Missense 34/34 -
9-135782214-G-A TSC1 c.1342C>T p.P448S Missense 14/23 -
11-32456298-G-A WT1 c.609C>T p.N203= Synonymous 1/10 -
14-75514200-T-C MLH3 c.2159A>G p.Y720C Missense 2/13 -
14-75515668-T-G MLH3 c.691A>C p.K231Q Missense 2/13 -
9-5126343-G-A JAK2 c.3188G>A p.R1063H Missense 24/25 -
5-131923673-G-T RAD50 c.943G>T p.V315L Missense 7/25 -
1-65312368-C-T JAK1 c.1951G>A p.V651M Missense 14/25 -
9-135779052-G-A TSC1 c.2194C>T p.H732Y Missense 17/23 -
9-135778098-T-C TSC1 c.2285A>G p.N762S Missense 18/23 -
16-2134508-G-T TSC2 c.4285G>T p.A1429S Missense 34/42 -
9-135800991-A-C TSC1 c.346T>G p.L116V Missense 5/23 -
16-2134317-C-T TSC2 c.4094C>T p.S1365L Missense 34/42 -
15-91308570-C-T BLM c.2119C>T p.P707S Missense 9/22 -
8-31000144-C-T WRN c.3236C>T p.S1079L Missense 27/35 -
2-215657051-G-A BARD1 c.334C>T p.R112* Nonsense 3/11 -
17-7578245-G-A TP53 c.604C>T p.R202C Missense 6/11 -
2-29416731-C-T ALK c.4222G>A p.E1408K Missense 29/29 -
2-47707879-A-C MSH2 c.2503A>C p.N835H Missense 15/16 -
2-47635667-G-A MSH2 c.339G>A p.K113= Synonymous 2/16 -
2-47698108-T-C MSH2 c.1666T>C p.L556= Synonymous 11/16 -
11-108106435-A-G ATM c.370A>G p.I124V Missense 5/63 -
12-56481424-C-T ERBB3 c.611C>T p.T204I Missense 5/28 -
12-56487605-G-A ERBB3 c.1538G>A p.G513D Missense 13/28 -
12-56495339-C-A ERBB3 c.3529C>A p.L1177I Missense 28/28 -
12-56493741-G-C ERBB3 c.3057G>C p.E1019D Missense 25/28 -
12-56482649-A-G ERBB3 c.1106A>G p.N369S Missense 9/28 -
12-56487657-G-C ERBB3 c.1590G>C p.V530= Synonymous 13/28 -
2-48025764-C-T MSH6 c.642C>T p.Y214= Synonymous 4/10 -
1-156845431-G-A NTRK1 c.1474G>A p.E492K Missense 12/17 -
8-128751201-G-A MYC c.738G>A p.P246= Synonymous 2/3 -
5-131951811-G-A RAD50 c.3153G>A p.L1051= Synonymous 20/25 -
2-212587119-T-C ERBB4 c.882A>G p.P294= Synonymous 7/28 -
7-55266502-C-T EGFR c.2794C>T p.R932C Missense 23/28 -
14-104169623-G-A XRCC3 c.448C>T p.R150C Missense 7/10 -
2-47657079-A-G MSH2 c.1275A>G p.E425= Synonymous 7/16 -
9-139410467-G-A NOTCH1 c.1635C>T p.D545= Synonymous 10/34 -
9-139405181-G-A NOTCH1 c.2664C>T p.H888= Synonymous 17/34 -
9-139405154-G-A NOTCH1 c.2691C>T p.A897= Synonymous 17/34 -
9-139400180-G-T NOTCH1 c.4168C>A p.P1390T Missense 25/34 -
17-47696438-T-C SPOP c.385A>G p.K129E Missense 5/10 -
8-133894108-G-A TG c.639G>A p.R213= Synonymous 6/48 -
2-47637337-C-T MSH2 c.471C>T p.G157= Synonymous 3/16 -
16-2111996-C-T TSC2 c.1244C>T p.A415V Missense 12/42 -
13-32913148-T-C BRCA2 c.4656T>C p.G1552= Synonymous 11/27 -
13-49050945-T-C RB1 c.2629T>C p.F877L Missense 25/27 -
11-108121733-G-A ATM c.1541G>A p.G514D Missense 10/63 -
1-27099368-G-A ARID1A c.3605G>A p.R1202Q Missense 14/20 -
1-27106106-G-A ARID1A c.5717G>A p.R1906Q Missense 20/20 -
17-63530163-C-T AXIN2 c.2272G>A p.A758T Missense 10/11 -
15-91304245-C-T BLM c.1642C>T p.Q548* Nonsense 7/22 -
9-5081828-G-C JAK2 c.2538G>C p.E846D Missense 19/25 -
16-2130259-C-T TSC2 c.3491C>T p.A1164V Missense 30/42 -
14-75515693-C-T MLH3 c.666G>A p.K222= Synonymous 2/13 -
19-1221293-C-T STK11 c.816C>T p.Y272= Synonymous 6/10 -
1-11190694-G-T MTOR c.5505C>A p.A1835= Synonymous 39/58 -
17-63534353-T-C AXIN2 c.1168A>G p.S390G Missense 5/11 -
17-56787298-T-G RAD51C c.784T>G p.L262V Missense 5/9 -
5-80109479-T-G MSH3 c.2732T>G p.L911W Missense 20/24 -
X-66863156-A-T AR c.1675A>T p.T559S Missense 2/8 -
8-31030535-C-T WRN c.4216C>T p.R1406* Nonsense 35/35 -
2-212989563-G-A ERBB4 c.148C>T p.R50C Missense 2/28 -
15-40457337-C-T BUB1B c.119C>T p.T40M Missense 2/23 -
16-89805672-C-T FANCA c.4036G>A p.A1346T Missense 41/43 -
17-63533624-C-T AXIN2 c.1530G>A p.T510= Synonymous 6/11 -
16-348021-G-C AXIN1 c.1485C>G p.D495E Missense 6/11 -
16-348233-C-T AXIN1 c.1273G>A p.G425S Missense 6/11 -
11-108141988-T-C ATM c.2932T>C p.S978P Missense 20/63 -
9-139403482-G-A NOTCH1 c.3011C>T p.S1004L Missense 19/34 -
16-68867227-C-T CDH1 c.2474C>T p.P825L Missense 16/16 -
19-45858047-C-T ERCC2 c.1606G>A p.V536M Missense 17/23 -
11-108151786-C-T ATM c.3467C>T p.T1156M Missense 24/63 -
11-108164137-T-C ATM c.4709T>C p.V1570A Missense 31/63 -
8-90965597-A-T NBN c.1720T>A p.L574I Missense 11/16 -
16-23647569-G-A PALB2 c.298C>T p.L100F Missense 4/13 -
16-23625380-A-G PALB2 c.3146T>C p.M1049T Missense 11/13 -
15-40488948-C-T BUB1B c.1261C>T p.R421W Missense 9/23 -
15-40488914-A-C BUB1B c.1227A>C p.E409D Missense 9/23 -
15-40488857-G-C BUB1B c.1170G>C p.E390D Missense 9/23 -
17-37686920-C-T CDK12 c.3824C>T p.P1275L Missense 14/14 -
8-48841708-G-A PRKDC c.2083C>T p.P695S Missense 19/87 -
8-90967591-T-C NBN c.1317A>G p.I439M Missense 10/16 -
11-94203652-G-C MRE11 c.1002C>G p.S334R Missense 9/20 -
8-48852225-C-T PRKDC c.999G>A p.M333I Missense 11/87 -
17-37682375-T-A CDK12 c.3566T>A p.L1189Q Missense 13/14 -
16-89813023-G-A FANCA c.3482C>T p.T1161M Missense 35/43 -
2-48028151-C-T MSH6 c.3029C>T p.T1010I Missense 4/10 -
5-112176196-G-A APC c.4905G>A p.G1635= Synonymous 16/16 -
14-75483796-C-T MLH3 c.4351G>A p.E1451K Missense 13/13 -
14-75509146-G-T MLH3 c.3315C>A p.D1105E Missense 3/13 -
14-75514489-C-G MLH3 c.1870G>C p.E624Q Missense 2/13 -
12-12871129-T-C CDKN1B c.356T>C p.I119T Missense 1/3 -
5-112155002-G-T APC c.1273G>T p.E425* Nonsense 10/16 -
16-89857830-G-A FANCA c.1340C>T p.S447L Missense 14/43 -
11-108122592-C-G ATM c.1636C>G p.L546V Missense 11/63 -
15-89828441-C-T FANCI c.1813C>T p.L605F Missense 18/38 -
4-55131118-C-T PDGFRA c.661C>T p.L221F Missense 5/23 -
14-68352648-T-G RAD51B c.515T>G p.L172W Missense 6/11 -
16-2138111-G-A TSC2 c.5131G>A p.V1711M Missense 40/42 -
X-14877419-A-G FANCB c.989T>C p.I330T Missense 4/10 -
2-215593563-G-A BARD1 c.2171C>T p.A724V Missense 11/11 -
5-131893019-G-A RAD50 c.3G>A p.M1? Missense 1/25 -
12-121432153-C-T HNF1A c.900C>T p.P300= Synonymous 4/10 -
13-32913910-A-G BRCA2 c.5418A>G p.E1806= Synonymous 11/27 -
9-35076755-G-A FANCG c.890C>T p.T297I Missense 7/14 -
3-10115033-G-T FANCD2 c.2702G>T p.G901V Missense 28/44 -
13-32910723-C-G BRCA2 c.2231C>G p.S744* Nonsense 11/27 -
5-56155618-A-G MAP3K1 c.710A>G p.Q237R Missense 3/20 -
14-45605405-G-C FANCM c.171G>C p.L57F Missense 1/23 -
9-139401281-C-T NOTCH1 c.3788G>A p.R1263H Missense 23/34 -
11-22646398-G-A FANCF c.959C>T p.P320L Missense 1/1 -
13-103513942-A-G ERCC5 c.758A>G p.E253G Missense 7/15 -
19-45855574-G-A ERCC2 c.2083C>T p.R695C Missense 22/23 -
8-31024570-G-A WRN c.4015G>A p.V1339I Missense 34/35 -
8-145742850-T-C RECQL4 c.161A>G p.Q54R Missense 3/22 -
8-145742479-C-T RECQL4 c.309G>A p.P103= Synonymous 4/22 -
8-145741960-C-T RECQL4 c.543G>A p.Q181= Synonymous 5/22 -
8-145738827-C-T RECQL4 c.2238G>A p.A746= Synonymous 14/22 -
8-145737131-C-G RECQL4 c.3435G>C p.Q1145H missense_variant 21/22 -
8-145737131-C-T RECQL4 c.3435G>A p.Q1145Q synonymous_variant 21/22 -
8-145736832-G-A RECQL4 c.3609C>T p.L1203L synonymous_variant 22/22 -
11-22646800-G-A FANCF c.557C>T p.A186V Missense 1/1 -
17-41228555-C-G BRCA1 c.4434G>C p.E1478D Missense 13/23 -
16-68835573-T-G CDH1 c.164T>G p.V55G Missense 3/16 -
2-47601029-G-C EPCAM c.267G>C p.Q89H Missense 3/9 -
9-135797259-G-A TSC1 c.610C>T p.R204C Missense 7/23 -
16-89862388-A-G FANCA c.932T>C p.I311T Missense 11/43 -
X-76856021-T-C ATRX c.5579A>G p.N1860S Missense 23/35 -
1-2489200-C-T TNFRSF14 c.105C>T p.Y35= Synonymous 2/8 -
1-2491305-C-T TNFRSF14 c.348C>T p.N116= Synonymous 4/8 -
15-89825056-A-G FANCI c.1573A>G p.M525V Missense 16/38 -
17-63533469-G-A AXIN2 c.1685C>T p.P562L Missense 6/11 -
11-108216611-C-T ATM c.8560C>T p.R2854C Missense 58/63 -
9-97912307-T-A FANCC c.584A>T p.D195V Missense 7/15 -
9-135771709-A-T TSC1 c.3408T>A p.D1136E Missense 23/23 -
17-47696449-A-C SPOP c.374T>G p.F125C Missense 5/10 -
1-65321339-C-T JAK1 c.1501G>A p.E501K Missense 11/25 -
17-37864584-A-C ERBB2 c.236A>C p.E79A Missense 3/27 -
16-2138546-G-A TSC2 c.5359G>A p.G1787S Missense 42/42 -
3-142272098-A-G ATR c.2776T>C p.F926L Missense 13/47 -
9-139391900-C-T NOTCH1 c.6291G>A p.P2097= Synonymous 34/34 -
17-37884191-A-G ERBB2 c.3662A>G p.Y1221C Missense 27/27 -
17-37884176-C-A ERBB2 c.3647C>A p.A1216D Missense 27/27 -
17-29556177-G-A NF1 c.2544G>A p.G848= Synonymous 21/58 -
5-56155672-A-G MAP3K1 c.764A>G p.N255S Missense 3/20 -
2-29450537-G-A ALK c.2817C>T p.G939= Synonymous 17/29 -
11-108200990-C-T ATM c.7357C>T p.R2453C Missense 50/63 -
13-103498672-C-T ERCC5 c.56C>T p.P19L Missense 1/15 -
17-41245587-T-G BRCA1 c.1961A>C p.K654T Missense 10/23 -
19-1221315-C-T STK11 c.838C>T p.P280S Missense 6/10 -
14-75485594-C-T MLH3 c.4180G>A p.A1394T Missense 12/13 -
5-80063899-G-C MSH3 c.2044G>C p.V682L Missense 14/24 -
9-139403452-G-A NOTCH1 c.3041C>T p.T1014M Missense 19/34 -
5-112175711-G-A APC c.4420G>A p.A1474T Missense 16/16 -
5-67575548-T-C PIK3R1 c.621T>C p.I207= Synonymous 5/16 -
10-123310936-C-A FGFR2 c.492G>T p.K164N Missense 5/18 -
1-27105715-G-T ARID1A c.5326G>T p.E1776* Nonsense 20/20 -
5-80024685-C-A MSH3 c.1469C>A p.S490Y Missense 10/24 -
6-138202314-G-A TNFAIP3 c.2231G>A p.G744D Missense 9/9 -
6-138200342-C-T TNFAIP3 c.1760C>T p.P587L Missense 7/9 -
7-140453141-A-G BRAF c.1794T>C p.A598= Synonymous 15/18 -
3-142178118-G-C ATR c.7300C>G p.P2434A Missense 43/47 -
8-48710880-T-C PRKDC c.10373A>G p.N3458S missense_variant 74/87 -
15-91352464-G-A BLM c.3849G>A p.Q1283= Synonymous 20/22 -
16-2133798-G-A TSC2 c.3986G>A p.R1329H Missense 33/42 -
1-65301888-C-A JAK1 c.3151G>T p.E1051* Nonsense 23/25 -
17-7578462-G-A TP53 c.468C>T p.R156= Synonymous 5/11 -
16-68835593-G-A CDH1 c.184G>A p.G62S Missense 3/16 -
14-68352672-A-G RAD51B c.539A>G p.Y180C Missense 6/11 -
1-65339122-G-T JAK1 c.414C>A p.Y138* Nonsense 5/25 -
7-6026908-G-A PMS2 c.1488C>T p.H496= Synonymous 11/15 -
9-5126443-T-A JAK2 c.3288T>A p.D1096E Missense 24/25 -
1-65312342-G-A JAK1 c.1977C>T p.R659= Synonymous 14/25 -
5-131931320-C-T RAD50 c.2025C>T p.D675= Synonymous 13/25 -
X-66943552-A-G AR c.2632A>G p.T878A Missense 8/8 -
2-29456486-A-T ALK c.2432T>A p.V811E Missense 14/29 -
22-29083950-G-C CHEK2 c.1567C>G p.R523G Missense 15/15 -
22-29083950-G-T CHEK2 c.1567C>A p.R523S Missense 15/15 -
9-5126730-G-A JAK2 c.3338G>A p.R1113H Missense 25/25 -
8-128753254-A-G MYC c.*50A>G - 3-UTRSNV 3/3 -
7-55266503-G-A EGFR c.2795G>A p.R932H Missense 23/28 -
3-10094159-A-G FANCD2 c.1634A>G p.N545S Missense 18/44 -
11-108236150-G-A ATM c.9086G>A p.G3029D Missense 63/63 -
10-50723415-T-C ERCC6 c.1397+8664A>G - IntronicSNV - 5/20
12-56495092-G-A ERBB3 c.3449G>A p.G1150E Missense 27/28 -
12-56495515-G-T ERBB3 c.3705G>T p.L1235= Synonymous 28/28 -
12-56495604-G-C ERBB3 c.3794G>C p.R1265P Missense 28/28 -
10-43623606-G-A RET c.3234G>A p.T1078= Synonymous 20/20 -
10-43623615-T-C RET c.3243T>C p.D1081= Synonymous 20/20 -
10-89725209-A-T PTEN c.1192A>T p.T398S Missense 9/9 -
12-58143005-A-T CDK4 c.779T>A p.V260E Missense 7/8 -
12-58143008-G-A CDK4 c.776C>T p.S259L Missense 7/8 -
13-103514890-G-A ERCC5 c.1391G>A p.G464E Missense 8/15 -
1-27101221-T-A ARID1A c.4503T>A p.R1501= Synonymous 18/20 -
1-27101236-T-C ARID1A c.4518T>C p.Y1506= Synonymous 18/20 -
1-27101256-G-A ARID1A c.4538G>A p.S1513N Missense 18/20 -
1-27101260-G-A ARID1A c.4542G>A p.T1514= Synonymous 18/20 -
1-27101270-C-A ARID1A c.4552C>A p.P1518T Missense 18/20 -
1-27101281-C-T ARID1A c.4563C>T p.P1521= Synonymous 18/20 -
1-27101284-C-G ARID1A c.4566C>G p.A1522= Synonymous 18/20 -
1-27101293-C-T ARID1A c.4575C>T p.G1525= Synonymous 18/20 -
1-2493114-G-A TNFRSF14 c.554G>A p.C185Y Missense 6/8 -
1-45795027-C-G MUTYH c.1517G>C p.R506P Missense 16/16 -
1-45795027-C-T MUTYH c.1517G>A p.R506Q Missense 16/16 -
1-45795040-C-A MUTYH c.1504G>T p.D502Y Missense 16/16 -
1-45795040-C-G MUTYH c.1504G>C p.D502H Missense 16/16 -
1-45795040-C-T MUTYH c.1504G>A p.D502N Missense 16/16 -
1-45795084-G-C MUTYH c.1460C>G p.S487C Missense 16/16 -
13-49051502-C-A RB1 c.2675C>A p.P892Q Missense 26/27 -
17-37884142-C-T ERBB2 c.3613C>T p.P1205S Missense 27/27 -
17-37884157-C-T ERBB2 c.3628C>T p.P1210S Missense 27/27 -
17-37884180-C-T ERBB2 c.3651C>T p.F1217= Synonymous 27/27 -
16-2138509-C-G TSC2 c.5322C>G p.S1774R Missense 42/42 -
16-68862192-C-T CDH1 c.2280C>T p.G760= Synonymous 14/16 -
16-68863634-C-T CDH1 c.2373C>T p.L791= Synonymous 15/16 -
16-68867320-A-C CDH1 c.2567A>C p.D856A Missense 16/16 -
17-7576889-C-T TP53 c.957G>A p.K319= Synonymous 9/11 -
16-89805298-C-T FANCA c.4252G>A p.V1418M Missense 42/43 -
2-29416341-T-A ALK c.4612A>T p.S1538C Missense 29/29 -
2-29416357-G-A ALK c.4596C>T p.N1532= Synonymous 29/29 -
2-29416503-T-C ALK c.4450A>G p.N1484D Missense 29/29 -
2-29416528-G-A ALK c.4425C>T p.H1475= Synonymous 29/29 -
17-37884131-G-C ERBB2 c.3602G>C p.G1201A Missense 27/27 -
2-29416563-G-C ALK c.4390C>G p.R1464G Missense 29/29 -
3-41280671-C-T CTNNB1 c.2184C>T p.A728= Synonymous 15/15 -
3-41280710-C-A CTNNB1 c.2223C>A p.G741= Synonymous 15/15 -
3-41280807-C-T CTNNB1 c.2320C>T p.L774= Synonymous 15/15 -
2-212248367-A-G ERBB4 c.3900T>C p.P1300= Synonymous 28/28 -
2-212248370-T-C ERBB4 c.3897A>G p.P1299= Synonymous 28/28 -
2-212248376-C-G ERBB4 c.3891G>C p.P1297= Synonymous 28/28 -
2-212248384-C-T ERBB4 c.3883G>A p.V1295M Missense 28/28 -
2-212248391-T-A ERBB4 c.3876A>T p.P1292= Synonymous 28/28 -
2-212248400-G-C ERBB4 c.3867C>G p.S1289= Synonymous 28/28 -
2-212248406-C-A ERBB4 c.3861G>T p.E1287D Missense 28/28 -
2-212248409-A-T ERBB4 c.3858T>A p.S1286= Synonymous 28/28 -
2-212248418-T-C ERBB4 c.3849A>G p.E1283= Synonymous 28/28 -
2-212248442-C-G ERBB4 c.3825G>C p.R1275= Synonymous 28/28 -
2-212248439-A-G ERBB4 c.3828T>C p.P1276= Synonymous 28/28 -
2-212248451-C-T ERBB4 c.3816G>A p.G1272= Synonymous 28/28 -
2-212248591-T-G ERBB4 c.3676A>C p.I1226L Missense 28/28 -
2-212248673-G-A ERBB4 c.3594C>T p.A1198= Synonymous 28/28 -
2-128015257-T-C ERCC3 c.2264A>G p.D755G Missense 15/15 -
2-212251732-G-A ERBB4 c.3327C>T p.G1109= Synonymous 27/28 -
2-212251756-A-C ERBB4 c.3303T>G p.I1101M Missense 27/28 -
2-212251765-A-C ERBB4 c.3294T>G p.T1098= Synonymous 27/28 -
2-212251768-A-T ERBB4 c.3291T>A p.A1097= Synonymous 27/28 -
2-212252671-C-T ERBB4 c.3182G>A p.G1061E Missense 26/28 -
2-212285193-A-C ERBB4 c.3108T>G p.T1036= Synonymous 25/28 -
4-55161397-C-T PDGFRA c.3228C>T p.I1076= Synonymous 23/23 -
8-90965836-T-G NBN c.1481A>C p.Q494P Missense 11/16 -
5-112179773-A-G APC c.8482A>G p.T2828A Missense 16/16 -
5-112179787-G-A APC c.8496G>A p.K2832= Synonymous 16/16 -
8-145737341-G-A RECQL4 c.3347C>T p.P1116S Missense 20/22 -
7-140534454-T-C BRAF c.459A>G p.Q153= Synonymous 3/18 -
7-140534473-C-T BRAF c.440G>A p.S147N Missense 3/18 -
7-140534494-T-G BRAF c.419A>C p.N140T Missense 3/18 -
8-90955519-T-C NBN c.2146A>G p.N716D Missense 14/16 -
8-90955583-A-C NBN c.2082T>G p.P694= Synonymous 14/16 -
7-140534517-A-T BRAF c.396T>A p.P132= Synonymous 3/18 -
7-140534544-A-G BRAF c.369T>C p.S123= Synonymous 3/18 -
7-140534547-A-G BRAF c.366T>C p.S122= Synonymous 3/18 -
7-140534559-A-G BRAF c.354T>C p.D118= Synonymous 3/18 -
9-135771689-G-A TSC1 c.3428C>T p.P1143L Missense 23/23 -
9-135771697-C-T TSC1 c.3420G>A p.P1140= Synonymous 23/23 -
8-90965588-C-A NBN c.1729G>T p.D577Y Missense 11/16 -
8-90965650-A-T NBN c.1667T>A p.V556E Missense 11/16 -
8-90965808-A-C NBN c.1509T>G p.N503K Missense 11/16 -
X-76763845-T-G ATRX c.7463A>C p.Q2488P Missense 35/35 -
X-76763874-T-G ATRX c.7434A>C p.P2478= Synonymous 35/35 -
X-76763880-T-C ATRX c.7428A>G p.P2476= Synonymous 35/35 -
2-30142934-C-T ALK c.592G>A p.V198M Missense 1/29 -
22-29091186-G-A CHEK2 c.1304C>T p.S435L Missense 12/15 -
16-2110684-C-T TSC2 c.989C>T p.P330L Missense 11/42 -
4-1807478-G-T FGFR3 c.1647G>T p.G549= Synonymous 13/18 -
8-30938513-A-G WRN c.970A>G p.T324A Missense 9/35 -
1-27102188-A-G ARID1A c.5114A>G p.N1705S Missense 19/20 -
15-89838293-A-C FANCI c.2604A>C p.E868D Missense 24/38 -
5-80021325-A-G MSH3 c.1394A>G p.Y465C Missense 9/24 -
14-45605463-A-G FANCM c.229A>G p.T77A Missense 1/23 -
14-45606290-C-T FANCM c.527C>T p.T176I Missense 2/23 -
14-45606387-A-G FANCM c.624A>G p.I208M Missense 2/23 -
14-45628478-C-G FANCM c.1576C>G p.L526V Missense 9/23 -
14-45658024-C-T FANCM c.4799C>T p.T1600I Missense 20/23 -
14-45669205-T-C FANCM c.6141T>C p.D2047= Synonymous 23/23 -
2-47637314-G-A MSH2 c.448G>A p.V150I Missense 3/16 -
13-32907273-T-G BRCA2 c.1658T>G p.L553* Nonsense 10/27 -
1-120480583-G-A NOTCH2 c.3234C>T p.C1078= Synonymous 20/34 -
17-41247886-A-C BRCA1 c.647T>G p.I216S Missense 9/23 -
19-40742179-C-T AKT2 c.945G>A p.E315= Synonymous 10/14 -
15-91310214-A-G BLM c.2268A>G p.K756= Synonymous 10/22 -
5-131931472-G-A RAD50 c.2177G>A p.R726H Missense 13/25 -
19-1218494-G-A STK11 c.369G>A p.Q123= Synonymous 2/10 -
17-41244734-T-C BRCA1 c.2814A>G p.P938= Synonymous 10/23 -
1-65330499-T-C JAK1 c.1147A>G p.S383G Missense 8/25 -
13-32953489-T-C BRCA2 c.8790T>C p.N2930= Synonymous 22/27 -
17-41243654-T-G BRCA1 c.3894A>C p.S1298= Synonymous 10/23 -
13-32914160-A-G BRCA2 c.5668A>G p.M1890V Missense 11/27 -
13-32953533-A-G BRCA2 c.8834A>G p.Q2945R Missense 22/27 -
13-32911939-G-A BRCA2 c.3447G>A p.M1149I Missense 11/27 -
11-94180454-G-A MRE11 c.1714C>T p.R572* Nonsense 15/20 -
11-108198391-T-C ATM c.6995T>C p.L2332P Missense 48/63 -
13-32937505-A-C BRCA2 c.8166A>C p.T2722= Synonymous 18/27 -
8-133900575-T-C TG c.2523T>C p.S841= Synonymous 10/48 -
8-133900479-C-T TG c.2427C>T p.Y809= Synonymous 10/48 -
10-50732202-T-G ERCC6 c.1274A>C p.D425A Missense 5/21 -
17-7577136-T-G TP53 c.802A>C p.N268H Missense 8/11 -
15-91341447-G-A BLM c.3238G>A p.D1080N Missense 17/22 -
10-89717678-G-T PTEN c.703G>T p.E235* Nonsense 7/9 -
17-7577131-G-C TP53 c.807C>G p.S269R Missense 8/11 -
2-212488657-G-A ERBB4 c.2192C>T p.T731M Missense 18/28 -
19-40741886-G-A AKT2 c.1086C>T p.I362= Synonymous 11/14 -
19-4090572-G-A MAP2K2 c.*24C>T - 3-UTRSNV 11/11 -
19-4090572-G-C MAP2K2 c.*24C>G - 3-UTRSNV 11/11 -
17-37682200-A-G CDK12 c.3391A>G p.I1131V Missense 13/14 -
3-142272762-T-C ATR c.2437A>G p.M813V Missense 11/47 -
8-128751016-G-A MYC c.553G>A p.V185I Missense 2/3 -
15-89804864-A-G FANCI c.337A>G p.I113V Missense 5/38 -
16-89839765-G-C FANCA c.1928C>G p.P643R Missense 22/43 -
15-89843559-A-C FANCI c.2832A>C p.R944S Missense 26/38 -
17-37676274-C-T CDK12 c.3029C>T p.T1010I Missense 11/14 -
10-43596179-G-A RET c.337+9G>A - IntronicSNV - 2/19
9-97869536-C-T FANCC c.1345G>A p.V449M Missense 14/15 -
9-97897655-G-A FANCC c.816C>T p.I272= Synonymous 8/15 -
14-75515951-A-G MLH3 c.408T>C p.D136= Synonymous 2/13 -
4-55129981-A-T PDGFRA c.515A>T p.Y172F Missense 4/23 -
3-178938863-T-A PIK3CA c.2105T>A p.L702Q Missense 14/21 -
10-50678356-A-C ERCC6 c.3650T>G p.F1217C Missense 18/21 -
12-46245344-G-A ARID2 c.3438G>A p.S1146= Synonymous 15/21 -
2-47637382-A-G MSH2 c.516A>G p.K172= Synonymous 3/16 -
8-48739338-C-A PRKDC c.8659G>T p.V2887L missense_variant 64/87 -
8-48739338-C-G PRKDC c.8659G>C p.V2887L missense_variant 64/87 -
8-48739338-C-T PRKDC c.8659G>A p.V2887M missense_variant 64/87 -
3-142272170-A-G ATR c.2704T>C p.S902P Missense 13/47 -
11-108163382-C-T ATM c.4473C>T p.F1491= Synonymous 30/63 -
13-32910901-T-G BRCA2 c.2409T>G p.Y803* Nonsense 11/27 -
8-48805788-C-T PRKDC c.3756G>A p.T1252T synonymous_variant 32/87 -
17-12032526-T-A MAP2K4 c.962T>A p.V321E Missense 9/11 -
8-128752924-C-T MYC c.1085C>T p.S362F Missense 3/3 -
5-80063896-C-T MSH3 c.2041C>T p.P681S Missense 14/24 -
9-135781505-G-C TSC1 c.1460C>G p.S487C Missense 15/23 -
3-14212050-C-T XPC c.300G>A p.R100= Synonymous 3/16 -
5-112102987-G-A APC c.322G>A p.G108R Missense 4/16 -
22-30057209-G-T NF2 c.691G>T p.E231* Nonsense 8/16 -
15-66729100-T-G MAP2K1 c.308T>G p.I103S Missense 3/11 -
1-65303647-G-A JAK1 c.3108C>T p.T1036= Synonymous 22/25 -
1-11189077-T-C MTOR c.5715-69A>G - IntronicSNV - 40/57
1-11276353-C-A MTOR c.3031-62G>T - IntronicSNV - 19/57
17-29657444-A-G NF1 c.5740A>G p.T1914A Missense 39/58 -
5-112174297-C-T APC c.3006C>T p.A1002= Synonymous 16/16 -
16-68847398-G-T CDH1 c.1320G>T p.K440N Missense 9/16 -
5-112173496-G-A APC c.2205G>A p.A735= Synonymous 16/16 -
1-27107001-C-T ARID1A c.6612C>T p.A2204= Synonymous 20/20 -
1-27099913-C-T ARID1A c.3792C>T p.A1264= Synonymous 15/20 -
1-27101317-G-C ARID1A c.4599G>C p.L1533= Synonymous 18/20 -
17-37872146-G-A ERBB2 c.1467G>A p.P489= Synonymous 12/27 -
17-37883679-G-A ERBB2 c.3291G>A p.G1097= Synonymous 26/27 -
7-55273280-G-A EGFR c.3603G>A p.A1201= Synonymous 28/28 -
3-41266597-C-T CTNNB1 c.394C>T p.L132= Synonymous 4/15 -
1-27092778-G-T ARID1A c.2799G>T p.G933= Synonymous 9/20 -
5-112178327-C-T APC c.7036C>T p.P2346S Missense 16/16 -
7-55273269-C-T EGFR c.3592C>T p.L1198= Synonymous 28/28 -
7-55210007-G-T EGFR c.117G>T p.T39= Synonymous 2/28 -
7-140434505-G-A BRAF c.2193C>T p.P731= Synonymous 18/18 -
1-27101350-G-A ARID1A c.4632G>A p.S1544= Synonymous 18/20 -
1-27101404-C-T ARID1A c.4686C>T p.P1562= Synonymous 18/20 -
5-112173476-C-T APC c.2185C>T p.L729F Missense 16/16 -
7-55221711-G-A EGFR c.755G>A p.R252H Missense 7/28 -
1-27101348-T-C ARID1A c.4630T>C p.S1544P Missense 18/20 -
3-178928317-C-T PIK3CA c.1503C>T p.S501= Synonymous 9/21 -
17-37883745-C-T ERBB2 c.3357C>T p.P1119= Synonymous 26/27 -
9-139400122-C-T NOTCH1 c.4226G>A p.S1409N Missense 25/34 -
19-11101924-C-A SMARCA4 c.1344C>A p.R448= Synonymous 8/35 -
3-178928067-C-T PIK3CA c.1345C>T p.P449S Missense 8/21 -
19-11113781-G-A SMARCA4 c.1889G>A p.G630D Missense 12/35 -
19-11132466-G-A SMARCA4 c.2682G>A p.T894= Synonymous 19/35 -
17-47696644-A-T SPOP c.304T>A p.F102I Missense 4/10 -
17-47696637-A-G SPOP c.311T>C p.F104S Missense 4/10 -
19-11143977-G-A SMARCA4 c.3558G>A p.A1186= Synonymous 26/35 -
9-139399875-C-T NOTCH1 c.4473G>A p.T1491= Synonymous 25/34 -
19-11152105-C-T SMARCA4 c.4293C>T p.R1431= Synonymous 30/35 -
17-47679304-G-A SPOP c.903C>T p.N301= Synonymous 9/10 -
5-67576408-G-A PIK3R1 c.687G>A p.S229= Synonymous 6/16 -
17-29663752-C-T NF1 c.6247C>T p.R2083C Missense 42/58 -
13-32944741-C-T BRCA2 c.8487+47C>T - IntronicSNV - 19/26
7-6048618-C-G PMS2 c.23+10G>C - IntronicSNV - 1/14
1-11169676-C-T MTOR c.7447+30G>A - IntronicSNV - 55/57
1-11174331-T-C MTOR c.7300+44A>G - IntronicSNV - 53/57
1-11303153-C-A MTOR c.1412+18G>T - IntronicSNV - 9/57
12-121432299-C-T HNF1A c.955+91C>T - IntronicSNV - 4/9
17-7576712-C-T TP53 c.993+141G>A - IntronicSNV - 9/10
13-32972280-G-A BRCA2 c.9649-19G>A - IntronicSNV - 26/26
X-76952030-C-T ATRX c.370+35G>A - IntronicSNV - 5/34
13-49047451-A-G RB1 c.2490-45A>G - IntronicSNV - 23/26
2-39526950-T-C MAP4K3 c.1120-8A>G - IntronicSNV - 15/33
16-396727-C-T AXIN1 c.299G>A p.S100N Missense 2/11 -
13-32913110-G-T BRCA2 c.4618G>T p.D1540Y Missense 11/27 -
16-2133701-G-A TSC2 c.3889G>A p.A1297T Missense 33/42 -
16-2106725-C-G TSC2 c.729C>G p.L243= Synonymous 8/42 -
16-2120487-G-A TSC2 c.1747G>A p.A583T Missense 17/42 -
10-43597827-C-A RET c.375C>A p.V125= Synonymous 3/20 -
16-2136866-C-T TSC2 c.4983C>T p.T1661= Synonymous 38/42 -
9-135771793-G-A TSC1 c.3324C>T p.G1108= Synonymous 23/23 -
3-37045960-A-G MLH1 c.375A>G p.A125= Synonymous 4/19 -
16-2134492-G-A TSC2 c.4269G>A p.L1423= Synonymous 34/42 -
7-6026836-C-T PMS2 c.1560G>A p.A520= Synonymous 11/15 -
3-37067358-G-A MLH1 c.1269G>A p.R423= Synonymous 12/19 -
2-47698122-T-C MSH2 c.1680T>C p.N560= Synonymous 11/16 -
19-1223008-G-A STK11 c.945G>A p.P315= Synonymous 8/10 -
16-2103372-C-T TSC2 c.255C>T p.V85= Synonymous 4/42 -
16-2103345-C-T TSC2 c.228C>T p.H76= Synonymous 4/42 -
16-2129192-G-C TSC2 c.3126G>C p.P1042= Synonymous 27/42 -
7-6042144-C-T PMS2 c.477G>A p.V159= Synonymous 5/15 -
16-2121617-T-C TSC2 c.1946T>C p.M649T Missense 18/42 -
16-2136791-C-T TSC2 c.4908C>T p.D1636= Synonymous 38/42 -
16-2124296-C-T TSC2 c.2451C>T p.D817= Synonymous 22/42 -
16-2134438-C-T TSC2 c.4215C>T p.A1405= Synonymous 34/42 -
13-32893317-C-T BRCA2 c.171C>T p.Y57= Synonymous 3/27 -
2-47703654-A-G MSH2 c.2154A>G p.Q718= Synonymous 13/16 -
7-6042243-G-A PMS2 c.378C>T p.H126= Synonymous 5/15 -
13-48947553-C-T RB1 c.1140C>T p.N380= Synonymous 12/27 -
11-125503178-G-A CHEK1 c.545G>A p.R182K Missense 6/13 -
10-43597920-C-T RET c.468C>T p.A156= Synonymous 3/20 -
16-2111922-G-A TSC2 c.1170G>A p.T390= Synonymous 12/42 -
16-2130320-G-A TSC2 c.3552G>A p.A1184= Synonymous 30/42 -
16-2131708-C-T TSC2 c.3723C>T p.F1241= Synonymous 31/42 -
9-35075022-C-T FANCG c.1538G>A p.R513Q Missense 12/14 -
9-135797337-C-T TSC1 c.532G>A p.V178I Missense 7/23 -
16-396929-C-T AXIN1 c.97G>A p.V33M Missense 2/11 -
2-47709997-C-G MSH2 c.2714C>G p.T905R Missense 16/16 -
7-6027017-C-T PMS2 c.1379G>A p.G460D Missense 11/15 -
9-139402747-C-T NOTCH1 c.3262G>A p.G1088S Missense 20/34 -
2-48027371-C-A MSH6 c.2249C>A p.T750K Missense 4/10 -
7-6026958-C-T PMS2 c.1438G>A p.G480R Missense 11/15 -
1-120510728-G-A NOTCH2 c.1236C>T p.C412= Synonymous 7/34 -
2-47637299-A-G MSH2 c.433A>G p.I145V Missense 3/16 -
2-48028072-A-G MSH6 c.2950A>G p.N984D Missense 4/10 -
9-139418425-G-A NOTCH1 c.147C>T p.G49= Synonymous 3/34 -
13-32912112-A-G BRCA2 c.3620A>G p.Y1207C Missense 11/27 -
17-12013705-T-C MAP2K4 c.647T>C p.L216P Missense 6/11 -
19-40741991-A-G AKT2 c.981T>C p.Y327= Synonymous 11/14 -
7-6026459-C-A PMS2 c.1937G>T p.R646M Missense 11/15 -
7-6027227-G-A PMS2 c.1169C>T p.A390V Missense 11/15 -
7-6038849-G-A PMS2 c.595C>T p.R199C Missense 6/15 -
17-7578510-G-T TP53 c.420C>A p.T140= Synonymous 5/11 -
10-50678261-C-T ERCC6 c.3745G>A p.D1249N Missense 18/21 -
8-48711857-C-T PRKDC c.10208G>A p.G3403E missense_variant 73/87 -
2-212295801-G-A ERBB4 c.2512C>T p.R838* Nonsense 21/28 -
3-41266139-C-T CTNNB1 c.136C>T p.L46= Synonymous 3/15 -
9-139402715-G-A NOTCH1 c.3294C>T p.S1098= Synonymous 20/34 -
10-50732139-C-T ERCC6 c.1337G>A p.G446D Missense 5/21 -
17-63532594-A-G AXIN2 c.1985T>C p.L662P Missense 8/11 -
3-178922361-C-G PIK3CA c.1130C>G p.P377R Missense 6/21 -
19-40762915-G-A AKT2 c.93C>T p.S31= Synonymous 3/14 -
8-145737374-C-T RECQL4 c.3314G>A p.G1105S Missense 20/22 -
8-30916058-A-G WRN c.95A>G p.K32R Missense 2/35 -
8-128750783-G-A MYC c.320G>A p.S107N Missense 2/3 -
8-48769846-G-A PRKDC c.6477C>T p.Y2159Y synonymous_variant 50/87 -
1-120512286-T-C NOTCH2 c.956A>G p.N319S Missense 6/34 -
8-48846622-C-T PRKDC c.1526G>A p.R509H Missense 15/87 -
13-49033866-G-A RB1 c.2003G>A p.R668H Missense 20/27 -
16-354414-G-A AXIN1 c.1144C>T p.R382C Missense 5/11 -
16-89818580-C-T FANCA c.3032G>A p.R1011H Missense 31/43 -
1-120464916-C-T NOTCH2 c.5156G>A p.R1719Q Missense 28/34 -
17-7579331-G-C TP53 c.356C>G p.A119G Missense 4/11 -
3-142231119-T-C ATR c.4835A>G p.N1612S Missense 27/47 -
12-121432120-C-T HNF1A c.867C>T p.P289= Synonymous 4/10 -
16-14042070-A-G ERCC4 c.2617A>G p.I873V Missense 11/11 -
10-50669459-C-G ERCC6 c.3922G>C p.V1308L Missense 19/21 -
10-50667278-A-C ERCC6 c.4065T>G p.D1355E Missense 21/21 -
16-89869704-T-C FANCA c.755A>G p.D252G Missense 8/43 -
16-89874756-G-A FANCA c.542C>T p.A181V Missense 6/43 -
16-89806477-C-T FANCA c.3859G>A p.V1287I Missense 39/43 -
9-97934359-C-T FANCC c.416G>A p.G139E Missense 5/15 -
3-10081411-A-G FANCD2 c.577A>G p.T193A Missense 9/44 -
3-10080987-A-G FANCD2 c.516A>G p.I172M Missense 8/44 -
6-35423886-C-T FANCE c.611C>T p.S204L Missense 2/10 -
9-35075969-G-A FANCG c.1133C>T p.S378L Missense 9/14 -
5-112176300-C-T APC c.5009C>T p.A1670V Missense 16/16 -
3-142224107-G-A ATR c.5070C>T p.A1690= Synonymous 29/47 -
17-47684691-T-C SPOP c.758A>G p.E253G Missense 8/10 -
7-148512106-G-C EZH2 c.1572C>G p.N524K Missense 14/20 -
5-131915672-C-T RAD50 c.670C>T p.R224C Missense 5/25 -
1-11319309-C-T MTOR c.158G>A p.R53Q Missense 2/58 -
12-56487130-C-T ERBB3 c.1276C>T p.R426W Missense 12/28 -
10-123325173-G-A FGFR2 c.155C>T p.A52V Missense 3/18 -
17-37687013-C-T CDK12 c.3917C>T p.S1306F Missense 14/14 -
10-123325182-A-G FGFR2 c.146T>C p.V49A Missense 3/18 -
2-30142986-T-G ALK c.540A>C p.Q180H Missense 1/29 -
17-37883662-A-G ERBB2 c.3274A>G p.M1092V Missense 26/27 -
1-27088738-A-T ARID1A c.2347A>T p.T783S Missense 7/20 -
2-30142990-C-A ALK c.536G>T p.R179L Missense 1/29 -
1-27088744-A-G ARID1A c.2353A>G p.M785V Missense 7/20 -
17-37618386-T-C CDK12 c.62T>C p.L21S Missense 1/14 -
19-40741850-G-C AKT2 c.1122C>G p.S374R Missense 11/14 -
19-40741852-T-C AKT2 c.1120A>G p.S374G Missense 11/14 -
1-27088734-A-G ARID1A c.2343A>G p.I781M Missense 7/20 -
10-123325052-C-G FGFR2 c.276G>C p.L92F Missense 3/18 -
1-118166379-G-T TENT5C c.889G>T p.A297S Missense 2/2 -
1-118166384-A-C TENT5C c.894A>C p.E298D Missense 2/2 -
10-123325141-G-T FGFR2 c.187C>A p.L63M Missense 3/18 -
10-123325150-C-A FGFR2 c.178G>T p.V60L Missense 3/18 -
2-47637439-C-T MSH2 c.573C>T p.L191= Synonymous 3/16 -
7-116340269-C-T MET c.1131C>T p.I377= Synonymous 2/21 -
14-35872059-G-A NFKBIA c.554C>T p.T185M Missense 4/6 -
17-37872174-C-T ERBB2 c.1495C>T p.R499W Missense 12/27 -
19-11132552-C-T SMARCA4 c.2768C>T p.A923V Missense 19/35 -
11-108160506-T-G ATM c.4414T>G p.L1472V Missense 29/63 -
17-33445637-G-A RAD51D c.146C>T p.A49V Missense 3/10 -
15-91306241-G-A BLM c.1928G>A p.R643H Missense 8/22 -
8-128750735-C-A MYC c.272C>A p.A91E Missense 2/3 -
3-10184519-T-C VHL c.340+648T>C - IntronicSNV - 1/2
9-35077267-G-A FANCG c.640C>T p.R214C Missense 5/14 -
4-55136800-G-C PDGFRA c.1122G>C p.R374S Missense 8/23 -
1-120612006-G-C NOTCH2 c.15C>G p.R5= Synonymous 1/34 -
1-11181457-G-A MTOR c.6811-32C>T - IntronicSNV - 48/57
1-11181457-G-T MTOR c.6811-32C>A - IntronicSNV - 48/57
11-108155009-GT-TA ATM c.3802_3803delGTinsTA p.V1268* Nonsense 26/63 -
8-31012237-C-G WRN c.3785C>G p.T1262R Missense 32/35 -
3-14199767-T-C XPC c.1616A>G p.E539G Missense 9/16 -
19-40741862-C-A AKT2 c.1110G>T p.P370= Synonymous 11/14 -
11-32414333-G-T WT1 c.1265-32C>A - intron_variant - 7/9
15-91290633-T-C BLM c.11T>C p.V4A Missense 2/22 -
1-11182189-G-A MTOR c.6663-6C>T - IntronicSNV - 47/57
19-4099335-G-A MAP2K2 c.783C>T p.A261= Synonymous 7/11 -
16-2105450-C-T TSC2 c.529C>T p.L177F Missense 6/42 -
17-41245806-T-G BRCA1 c.1742A>C p.K581T Missense 10/23 -
12-56489541-G-A ERBB3 c.2006G>A p.R669H Missense 17/28 -
16-89851308-G-A FANCA c.1424C>T p.T475M Missense 15/43 -
17-12016553-T-C MAP2K4 c.689T>C p.I230T Missense 7/11 -
1-156834552-C-T NTRK1 c.320C>T p.A107V Missense 3/17 -
17-37618878-G-A CDK12 c.554G>A p.R185K Missense 1/14 -
8-133900647-C-T TG c.2595C>T p.P865= Synonymous 10/48 -
8-133900596-A-G TG c.2544A>G p.A848= Synonymous 10/48 -
10-43597795-G-A RET c.343G>A p.G115S Missense 3/20 -
8-133900470-C-T TG c.2418C>T p.I806= Synonymous 10/48 -
8-133900650-C-T TG c.2598C>T p.Y866= Synonymous 10/48 -
8-133899129-T-C TG c.1512T>C p.L504= Synonymous 9/48 -
1-27101512-C-T ARID1A c.4794C>T p.R1598= Synonymous 18/20 -
8-133923627-G-A TG c.4008G>A p.K1336= Synonymous 19/48 -
9-139395259-G-A NOTCH1 c.5679C>T p.G1893= Synonymous 31/34 -
1-27102075-G-A ARID1A c.5001G>A p.P1667= Synonymous 19/20 -
9-139397728-C-T NOTCH1 c.5073G>A p.Q1691= Synonymous 27/34 -
10-50681157-A-G ERCC6 c.2710-83T>C - IntronicSNV - 14/20
16-68835823-C-T CDH1 c.387+27C>T - IntronicSNV - 3/15
16-68863710-C-T CDH1 c.2439+10C>T - IntronicSNV - 15/15
16-68845571-C-G CDH1 c.833-16C>G - IntronicSNV - 6/15
16-68842578-C-A CDH1 c.532-18C>A - IntronicSNV - 4/15
16-68842578-C-T CDH1 c.532-18C>T - IntronicSNV - 4/15
13-48937016-C-T RB1 c.784C>T p.R262W Missense 8/27 -
2-215593443-A-G BARD1 c.2291T>C p.I764T Missense 11/11 -
9-139400245-C-T NOTCH1 c.4103G>A p.R1368H Missense 25/34 -
16-338085-G-T AXIN1 c.*37C>A - 3-UTRSNV 11/11 -
4-1803307-T-C FGFR3 c.616-40T>C - IntronicSNV - 5/17
4-1806519-C-A FGFR3 c.1267-32C>A - IntronicSNV - 9/17
4-1806519-C-T FGFR3 c.1267-32C>T - IntronicSNV - 9/17
2-212426588-C-T ERBB4 c.2487+40G>A - IntronicSNV - 20/27
16-2129231-C-T TSC2 c.3131+34C>T - IntronicSNV - 27/41
4-55129831-C-T PDGFRA c.368-3C>T - IntronicSNV - 3/22
19-45855740-A-G ERCC2 c.2046+24T>C - IntronicSNV - 21/22
14-45658588-A-T FANCM c.5340+23A>T - IntronicSNV - 20/22
8-30958504-A-G WRN c.2088+33A>G - IntronicSNV - 18/34
2-39517558-C-T MAP4K3 c.1272-83G>A - IntronicSNV - 18/33
11-108151688-T-A ATM c.3403-34T>A - IntronicSNV - 23/62
17-33443932-T-C RAD51D c.263+1588A>G - IntronicSNV - 3/9
5-112174464-A-G APC c.3173A>G p.D1058G Missense 16/16 -
8-48800245-C-A PRKDC c.4432G>T p.V1478F missense_variant 36/87 -
8-48800245-C-G PRKDC c.4432G>C p.V1478L missense_variant 36/87 -
5-131973890-G-A RAD50 c.3593G>A p.R1198Q Missense 23/25 -
2-29498344-G-A ALK c.1836C>T p.V612= Synonymous 10/29 -
8-48771413-T-C PRKDC c.6341A>G p.E2113E Missense 48/87 -
8-48689449-G-A PRKDC c.12135C>T p.Y4045Y synonymous_variant 86/87 -
8-48771194-A-G PRKDC c.6345T>C p.D2115D splice_region_variant,synonymous_variant 49/87 -
7-116403141-G-A MET c.2402G>A p.C801Y Missense 11/21 -
10-43598056-G-A RET c.604G>A p.V202M Missense 3/20 -
1-11288793-G-A MTOR c.2962C>T p.Q988* Nonsense 19/58 -
3-10088285-T-G FANCD2 c.1156T>G p.F386V Missense 15/44 -
17-29652931-G-A NF1 c.4929G>A p.V1643= Synonymous 37/58 -
6-35423799-G-A FANCE c.524G>A p.G175D Missense 2/10 -
17-37864612-C-A ERBB2 c.264C>A p.H88Q Missense 3/27 -
3-14199852-T-G XPC c.1531A>C p.K511Q Missense 9/16 -
3-14187482-T-G XPC c.2782A>C p.K928Q Missense 16/16 -
3-14206353-A-C XPC c.860T>G p.F287C Missense 7/16 -
13-103513951-A-G ERCC5 c.767A>G p.Q256R Missense 7/15 -
11-125514098-C-T CHEK1 c.1036C>T p.Q346* Nonsense 10/13 -
15-89835982-C-A FANCI c.2056C>A p.Q686K Missense 21/38 -
5-112179680-A-G APC c.8389A>G p.S2797G Missense 16/16 -
9-100437789-G-C XPA c.754C>G p.L252V Missense 6/6 -
9-100437777-T-C XPA c.766A>G p.M256V Missense 6/6 -
1-120506308-C-T NOTCH2 c.1804G>A p.A602T Missense 11/34 -
2-128017009-C-T ERCC3 c.2080G>A p.A694T Missense 14/15 -
10-50678884-T-G ERCC6 c.3122A>C p.Q1041P Missense 18/21 -
14-68353913-T-G RAD51B c.748T>G p.S250A Missense 7/11 -
3-14220032-C-G XPC c.37G>C p.G13R Missense 1/16 -
5-131939181-G-C RAD50 c.2397G>C p.Q799H Missense 14/25 -
5-131940620-C-T RAD50 c.2647C>T p.R883C Missense 16/25 -
17-37871547-C-A ERBB2 c.1157C>A p.A386D Missense 10/27 -
17-33434461-T-C RAD51D c.269A>G p.D90G Missense 4/10 -
9-97873833-G-A FANCC c.1241C>T p.S414L Missense 13/15 -
16-89874721-G-C FANCA c.577C>G p.L193V Missense 6/43 -
8-48843310-G-C PRKDC c.1814C>G p.T605S Missense 17/87 -
11-108170524-A-G ATM c.5089A>G p.T1697A Missense 34/63 -
14-45658158-C-T FANCM c.4933C>T p.R1645C Missense 20/23 -
10-50678347-G-A ERCC6 c.3659C>T p.T1220I Missense 18/21 -
10-50678722-G-C ERCC6 c.3284C>G p.P1095R Missense 18/21 -
8-48719844-G-A PRKDC c.9598C>T p.P3200S missense_variant 70/87 -
8-48719844-G-T PRKDC c.9598C>A p.P3200T missense_variant 70/87 -
5-131973794-G-A RAD50 c.3497G>A p.R1166Q Missense 23/25 -
11-108158393-C-A ATM c.4060C>A p.P1354T Missense 27/63 -
5-131977896-G-A RAD50 c.3779G>A p.R1260H Missense 25/25 -
16-89874754-C-G FANCA c.544G>C p.V182L Missense 6/43 -
3-14200383-G-A XPC c.1000C>T p.P334S Missense 9/16 -
19-45855543-T-C ERCC2 c.2114A>G p.N705S Missense 22/23 -
8-145737123-G-A RECQL4 c.3443C>T p.S1148F missense_variant 21/22 -
8-145737374-C-G RECQL4 c.3313G>C p.G1105R missense_variant 20/22 -
16-14029516-G-C ERCC4 c.1727G>C p.R576T Missense 8/11 -
16-396193-G-A AXIN1 c.833C>T p.P278L Missense 2/11 -
7-148508818-G-A EZH2 c.1852-6C>T - IntronicSNV - 15/19
7-6042266-C-T PMS2 c.355G>A p.D119N Missense 5/15 -
7-116335811-A-T MET c.1-3328A>T - IntronicSNV - 1/20
16-14014055-C-T ERCC4 c.33C>T p.A11= Synonymous 1/11 -
9-139404172-G-A NOTCH1 c.2969+13C>T - IntronicSNV - 18/33
11-108168127-G-A ATM c.5005+18G>A - IntronicSNV - 33/62
16-89857801-G-A FANCA c.1359+10C>T - IntronicSNV - 14/42
16-89865490-G-A FANCA c.893+84C>T - IntronicSNV - 10/42
22-24135882-C-T SMARCB1 c.362+7C>T - IntronicSNV - 3/8
2-39553051-A-G MAP4K3 c.714T>C p.D238= Synonymous 10/34 -
3-142231190-G-A ATR c.4764C>T p.L1588= Synonymous 27/47 -
1-120468128-G-A NOTCH2 c.4311C>T p.G1437= Synonymous 25/34 -
4-1805502-C-T FGFR3 c.1014C>T p.T338= Synonymous 8/18 -
2-215645989-T-G BARD1 c.158+28147A>C p.G203G UnclassifiedSNV 4/11 -
2-30142881-A-G ALK c.645T>C p.L215= Synonymous 1/29 -
5-56177913-C-G MAP3K1 c.2886C>G p.P962= Synonymous 14/20 -
7-55233080-C-T EGFR c.1830C>T p.Y610= Synonymous 15/28 -
9-139391321-G-A NOTCH1 c.6870C>T p.S2290= Synonymous 34/34 -
9-139399812-G-A NOTCH1 c.4536C>T p.A1512= Synonymous 25/34 -
9-139438552-G-A NOTCH1 c.64C>T p.P22S Missense 2/34 -
15-91304070-G-A BLM c.1467G>A p.R489= Synonymous 7/22 -
12-12871860-C-T CDKN1B c.577C>T p.L193F Missense 2/3 -
14-45645820-A-G FANCM c.3863A>G p.N1288S Missense 14/23 -
14-45658415-G-A FANCM c.5190G>A p.Q1730= Synonymous 20/23 -
14-45665690-C-T FANCM c.5656C>T p.H1886Y Missense 21/23 -
12-58143088-C-T CDK4 c.696G>A p.L232= Synonymous 7/8 -
12-58144781-T-C CDK4 c.447A>G p.T149= Synonymous 4/8 -
12-58145350-T-C CDK4 c.151A>G p.I51V Missense 2/8 -
12-58145321-C-T CDK4 c.180G>A p.L60= Synonymous 2/8 -
12-46246398-G-A ARID2 c.4492G>A p.A1498T Missense 15/21 -
17-29585457-A-G NF1 c.4269A>G p.E1423= Synonymous 32/58 -
20-36030855-G-A SRC c.1134G>A p.A378= Synonymous 12/14 -
X-14883231-T-C FANCB c.402A>G p.L134= Synonymous 3/10 -
17-37883671-G-A ERBB2 c.3283G>A p.A1095T Missense 26/27 -
17-41245212-G-T BRCA1 c.2336C>A p.T779N Missense 10/23 -
19-45867713-G-A ERCC2 c.687C>T p.A229= Synonymous 8/23 -
3-142274834-A-G ATR c.2226T>C p.C742= Synonymous 10/47 -
1-65332759-G-A JAK1 c.780C>T p.S260= Synonymous 7/25 -
9-5123076-G-A JAK2 c.3132G>A p.L1044= Synonymous 23/25 -
17-37627732-C-T CDK12 c.1647C>T p.P549= Synonymous 2/14 -
1-65332753-G-A JAK1 c.786C>T p.S262= Synonymous 7/25 -
2-39509689-T-C MAP4K3 c.1594A>G p.I532V Missense 22/34 -
1-65312403-G-A JAK1 c.1916C>T p.A639V Missense 14/25 -
16-68835528-T-C CDH1 c.164-45T>C - IntronicSNV - 2/15
19-11145825-C-G SMARCA4 c.4170+17C>G - IntronicSNV - 29/34
15-89801939-C-T FANCI c.89C>T p.T30I Missense 3/38 -
15-89806685-T-C FANCI c.539T>C p.M180T Missense 7/38 -
15-89811742-G-A FANCI c.868G>A p.V290M Missense 10/38 -
15-89819943-G-A FANCI c.1114G>A p.V372I Missense 13/38 -
15-89828438-A-G FANCI c.1810A>G p.M604V Missense 18/38 -
15-89837206-A-G FANCI c.2434A>G p.S812G Missense 23/38 -
15-89849354-G-C FANCI c.3466G>C p.G1156R Missense 32/38 -
15-89843567-C-T FANCI c.2840C>T p.A947V Missense 26/38 -
15-89834902-G-A FANCI c.1949G>A p.C650Y Missense 20/38 -
15-89849243-G-T FANCI c.3355G>T p.A1119S Missense 32/38 -
15-89849288-A-G FANCI c.3400A>G p.I1134V Missense 32/38 -
15-89807836-C-T FANCI c.753C>T p.D251= Synonymous 9/38 -
1-27106168-G-C ARID1A c.5779G>C p.A1927P Missense 20/20 -
11-22646984-C-T FANCF c.373G>A p.D125N Missense 1/1 -
4-55127488-G-A PDGFRA c.276G>A p.A92= Synonymous 3/23 -
3-178943757-G-A PIK3CA c.2424G>A p.R808= Synonymous 17/21 -
17-29490236-G-A NF1 c.321G>A p.T107= Synonymous 4/58 -
2-212652752-C-T ERBB4 c.554G>A p.G185E Missense 4/28 -
19-11107199-T-G SMARCA4 c.1791T>G p.P597= Synonymous 11/35 -
7-140481425-T-C BRAF c.1383A>G p.Q461= Synonymous 11/18 -
15-66727503-G-A MAP2K1 c.219G>A p.E73= Synonymous 2/11 -
4-55131129-G-A PDGFRA c.672G>A p.V224= Synonymous 5/23 -
11-108205734-A-G ATM c.8049A>G p.I2683M Missense 55/63 -
9-139397677-C-A NOTCH1 c.5124G>T p.S1708= Synonymous 27/34 -
11-533879-G-A HRAS c.177C>T p.A59= Synonymous 3/6 -
2-212426748-G-A ERBB4 c.2367C>T p.S789= Synonymous 20/28 -
4-55152019-T-C PDGFRA c.2451T>C p.R817= Synonymous 18/23 -
11-108139165-T-A ATM c.2667T>A p.Y889* Nonsense 18/63 -
19-40740985-C-T AKT2 c.1333G>A p.A445T Missense 13/14 -
12-121432075-A-G HNF1A c.822A>G p.E274= Synonymous 4/10 -
2-212543834-G-A ERBB4 c.1565C>T p.S522L Missense 13/28 -
11-108178702-G-A ATM c.5753G>A p.R1918K Missense 38/63 -
3-178947088-G-A PIK3CA c.2524G>A p.G842S Missense 18/21 -
8-90982814-G-A NBN c.703-29C>T - IntronicSNV - 6/15
8-90976777-C-G NBN c.897-42G>C - IntronicSNV - 7/15
11-108119654-T-C ATM c.1066-6T>C - IntronicSNV - 8/62
11-108119654-T-G ATM c.1066-6T>G - IntronicSNV - 8/62
11-108190627-T-C ATM c.6348-54T>C - IntronicSNV - 43/62
14-68352579-C-T RAD51B c.453-7C>T - IntronicSNV - 5/10
11-94212019-G-A MRE11 c.426C>T p.D142= Synonymous 6/20 -
3-142281400-C-G ATR c.844G>C p.E282Q Missense 4/47 -
2-47601081-G-A EPCAM c.319G>A p.A107T Missense 3/9 -
14-45636181-G-A FANCM c.1817G>A p.R606K Missense 11/23 -
14-45639985-C-G FANCM c.2160+36C>G - IntronicSNV - 12/22
14-45639985-C-T FANCM c.2160+36C>T - IntronicSNV - 12/22
2-212285333-C-T ERBB4 c.2968G>A p.D990N Missense 25/28 -
3-142178196-G-A ATR c.7222C>T p.Q2408* Nonsense 43/47 -
4-1801542-A-G FGFR3 c.445+3A>G - IntronicSNV - 4/17
12-121437145-G-A HNF1A c.1576G>A p.D526N Missense 8/10 -
9-139409089-C-T NOTCH1 c.2080G>A p.E694K Missense 13/34 -
22-24159110-G-A SMARCB1 c.782G>A p.R261H Missense 6/9 -
1-27102093-G-A ARID1A c.5019G>A p.M1673I Missense 19/20 -
11-108201096-G-A ATM c.7463G>A p.C2488Y Missense 50/63 -
11-108143467-T-C ATM c.3172T>C p.W1058R Missense 22/63 -
10-123239047-T-C FGFR2 c.*324A>G - 3-UTRSNV 18/18 -
2-48032717-T-A MSH6 c.3557-40T>A - IntronicSNV - 6/9
17-37868319-C-T ERBB2 c.1021+19C>T - IntronicSNV - 8/26
17-37880138-C-G ERBB2 c.2209-27C>G - IntronicSNV - 18/26
9-139397557-C-G NOTCH1 c.5167+77G>C - IntronicSNV - 27/33
11-108121573-G-T ATM c.1381G>T p.E461* Nonsense 10/63 -
9-135781182-C-T TSC1 c.1783G>A p.G595S Missense 15/23 -
2-48032115-C-G MSH6 c.3505C>G p.P1169A Missense 6/10 -
12-69222581-G-A MDM2 c.554G>A p.R185Q Missense 8/11 -
12-56493772-G-A ERBB3 c.3088G>A p.A1030T Missense 25/28 -
7-55214308-A-G EGFR c.434A>G p.H145R Missense 4/28 -
8-128750607-G-A MYC c.144G>A p.Q48= Synonymous 2/3 -
5-56177920-C-T MAP3K1 c.2893C>T p.Q965* Nonsense 14/20 -
14-75498846-C-T MLH3 c.3752G>A p.R1251Q Missense 8/13 -
9-139399489-C-T NOTCH1 c.4654G>A p.A1552T Missense 26/34 -
1-27106033-G-A ARID1A c.5644G>A p.V1882M Missense 20/20 -
13-49037951-C-T RB1 c.2191C>T p.L731F Missense 21/27 -
1-156846300-G-A NTRK1 c.1741G>A p.E581K Missense 14/17 -
14-68301803-G-A RAD51B c.205G>A p.G69R Missense 4/11 -
7-55270257-C-T EGFR c.3210C>T p.S1070= Synonymous 27/28 -
5-112174540-T-G APC c.3249T>G p.D1083E Missense 16/16 -
15-66777345-G-A MAP2K1 c.711G>A p.G237= Synonymous 7/11 -
4-1801511-C-T FGFR3 c.417C>T p.D139= Synonymous 4/18 -
11-108202220-A-C ATM c.7565A>C p.Q2522P Missense 51/63 -
1-27105561-G-A ARID1A c.5172G>A p.L1724= Synonymous 20/20 -
2-29543699-G-A ALK c.1464C>T p.G488= Synonymous 7/29 -
5-112179748-A-G APC c.8457A>G p.K2819= Synonymous 16/16 -
2-58387258-A-G FANCL c.1077T>C p.C359= Synonymous 13/14 -
3-41275350-C-T CTNNB1 c.1516C>T p.L506= Synonymous 9/15 -
4-55141085-G-A PDGFRA c.1731G>A p.P577= Synonymous 12/23 -
4-1806635-C-T FGFR3 c.1351C>T p.L451= Synonymous 10/18 -
5-80109433-G-A MSH3 c.2686G>A p.G896R Missense 20/24 -
16-68845608-C-T CDH1 c.854C>T p.T285I Missense 7/16 -
17-37865638-G-A ERBB2 c.507G>A p.W169* Nonsense 4/27 -
2-47637505-G-A MSH2 c.639G>A p.L213= Synonymous 3/16 -
5-67588131-G-A PIK3R1 c.961G>A p.G321S Missense 8/16 -
17-41251812-G-A BRCA1 c.527C>T p.T176M Missense 7/23 -
4-1801219-C-T FGFR3 c.348C>T p.R116= Synonymous 3/18 -
11-533546-G-A HRAS c.357C>T p.D119= Synonymous 4/6 -
1-27100176-C-G ARID1A c.3972C>G p.Y1324* Nonsense 16/20 -
12-12870831-C-T CDKN1B c.58C>T p.Q20* Nonsense 1/3 -
5-56177540-T-G MAP3K1 c.2513T>G p.L838* Nonsense 14/20 -
3-142274890-G-A ATR c.2170C>T p.L724= Synonymous 10/47 -
15-40453430-G-T BUB1B c.9G>T p.A3= Synonymous 1/23 -
7-55240803-C-T EGFR c.2047C>T p.L683= Synonymous 17/28 -
11-125503116-G-A CHEK1 c.483G>A p.E161= Synonymous 6/13 -
3-142266680-G-A ATR c.3244C>T p.R1082C Missense 16/47 -
12-121435353-C-T HNF1A c.1386C>T p.V462= Synonymous 7/10 -
3-142281252-T-C ATR c.992A>G p.D331G Missense 4/47 -
19-11096912-C-G SMARCA4 c.403C>G p.P135A Missense 4/35 -
13-32936728-G-T BRCA2 c.7874G>T p.R2625I Missense 17/27 -
1-27101454-A-C ARID1A c.4736A>C p.Q1579P Missense 18/20 -
7-116423528-T-C MET c.3798+5T>C - IntronicSNV - 19/20
22-30069327-C-T NF2 c.1192C>T p.L398= Synonymous 12/16 -
22-30069359-A-G NF2 c.1224A>G p.E408= Synonymous 12/16 -
16-2121910-G-T TSC2 c.2072G>T p.R691L Missense 19/42 -
1-65321250-G-A JAK1 c.1590C>T p.I530= Synonymous 11/25 -
2-39515406-T-G MAP4K3 c.1330A>C p.I444L Missense 20/34 -
19-4117537-T-C MAP2K2 c.183A>G p.K61= Synonymous 2/11 -
14-35871759-C-T NFKBIA c.747G>A p.Q249= Synonymous 5/6 -
14-68758618-G-A RAD51B c.774G>A p.Q258= Synonymous 8/11 -
12-46246611-G-A ARID2 c.4705G>A p.A1569T Missense 15/21 -
9-139399977-G-A NOTCH1 c.4371C>T p.D1457= Synonymous 25/34 -
9-139400013-G-A NOTCH1 c.4335C>T p.I1445= Synonymous 25/34 -
16-68855936-C-T CDH1 c.1744C>T p.L582= Synonymous 12/16 -
1-65344802-C-T JAK1 c.235G>A p.A79T Missense 4/25 -
19-4101044-G-A MAP2K2 c.678C>T p.S226= Synonymous 6/11 -
19-11101993-G-A SMARCA4 c.1413G>A p.K471= Synonymous 8/35 -
19-11105593-A-G SMARCA4 c.1509A>G p.A503= Synonymous 9/35 -
10-50708673-A-G ERCC6 c.1596T>C p.D532= Synonymous 7/21 -
10-123279673-A-C FGFR2 c.759T>G p.P253= Synonymous 7/18 -
22-24134026-G-A SMARCB1 c.177G>A p.E59= Synonymous 2/9 -
22-24134041-T-G SMARCB1 c.192T>G p.V64= Synonymous 2/9 -
11-108181043-G-A ATM c.5918+1G>A - IntronicSNV - 39/62
4-55155179-C-T PDGFRA c.2778C>T p.Y926= Synonymous 21/23 -
17-37884069-C-T ERBB2 c.3540C>T p.V1180= Synonymous 27/27 -
12-69222634-C-T MDM2 c.607C>T p.L203= Synonymous 8/11 -
4-1803236-C-T FGFR3 c.588C>T p.R196= Synonymous 5/18 -
1-11169420-G-A MTOR c.7455C>T p.D2485= Synonymous 56/58 -
10-123260362-G-A FGFR2 c.1539C>T p.T513= Synonymous 11/18 -
10-123260362-G-T FGFR2 c.1539C>A p.T513= Synonymous 11/18 -
9-139410437-C-T NOTCH1 c.1665G>A p.T555= Synonymous 10/34 -
15-89835954-C-T FANCI c.2028C>T p.A676= Synonymous 21/38 -
15-89837139-G-T FANCI c.2367G>T p.A789= Synonymous 23/38 -
7-55268949-A-G EGFR c.3015A>G p.E1005= Synonymous 25/28 -
1-11187768-G-A MTOR c.6129C>T p.N2043= Synonymous 44/58 -
17-37627387-A-G CDK12 c.1302A>G p.S434= Synonymous 2/14 -
17-37866422-G-A ERBB2 c.727G>A p.G243S Missense 6/27 -
9-5077517-T-C JAK2 c.1929T>C p.N643= Synonymous 15/25 -
4-55127413-C-T PDGFRA c.201C>T p.S67= Synonymous 3/23 -
9-139393658-C-T NOTCH1 c.5988G>A p.T1996= Synonymous 32/34 -
10-123325160-C-T FGFR2 c.168G>A p.E56= Synonymous 3/18 -
9-139402584-G-A NOTCH1 c.3333C>T p.D1111= Synonymous 21/34 -
6-35427531-T-C FANCE c.1310T>C p.M437T Missense 7/10 -
11-22646972-G-C FANCF c.385C>G p.L129V Missense 1/1 -
2-58459232-G-A FANCL c.112C>T p.L38F Missense 2/14 -
16-89805946-C-T FANCA c.3950G>A p.R1317Q Missense 40/43 -
19-45868136-C-T ERCC2 c.554G>A p.R185Q Missense 7/23 -
7-148523541-C-T EZH2 c.907+5G>A - IntronicSNV - 8/19
2-48018030-A-G MSH6 c.261-36A>G - IntronicSNV - 1/9
16-2124366-G-A TSC2 c.2521G>A p.V841I Missense 22/42 -
10-50690905-C-T ERCC6 c.1997G>A p.R666H Missense 10/21 -
10-89717716-A-G PTEN c.741A>G p.L247= Synonymous 7/9 -
17-37882856-T-C ERBB2 c.2914T>C p.L972= Synonymous 24/27 -
8-30916702-C-G WRN c.130C>G p.L44V Missense 3/35 -
9-97897679-A-C FANCC c.792T>G p.S264R Missense 8/15 -
16-2134450-G-T TSC2 c.4227G>T p.R1409= Synonymous 34/42 -
9-5081778-C-T JAK2 c.2488C>T p.L830= Synonymous 19/25 -
1-65305287-G-A JAK1 c.2841C>T p.D947= Synonymous 20/25 -
10-50678615-T-C ERCC6 c.3391A>G p.N1131D Missense 18/21 -
16-68842817-A-G CDH1 c.687+66A>G - IntronicSNV - 5/15
16-68857382-C-A CDH1 c.2017C>A p.Q673K Missense 13/16 -
19-45868291-T-G ERCC2 c.477+9A>C - IntronicSNV - 6/22
3-10070336-G-C FANCD2 c.1-6G>C - 5-UTRSNV 2/44 -
3-37067120-T-A MLH1 c.1039-8T>A - IntronicSNV - 11/18
10-123353299-G-A FGFR2 c.33C>T p.V11= Synonymous 2/18 -
12-12870938-G-A CDKN1B c.165G>A p.A55= Synonymous 1/3 -
1-11190730-G-A MTOR c.5469C>T p.A1823= Synonymous 39/58 -
1-11272468-C-G MTOR c.3462G>C p.R1154= Synonymous 23/58 -
1-2488112-T-C TNFRSF14 c.9T>C p.P3= Synonymous 1/8 -
7-55210048-G-A EGFR c.158G>A p.R53K Missense 2/28 -
11-532729-C-T HRAS c.477G>A p.L159= Synonymous 5/6 -
10-89692982-G-T PTEN c.466G>T p.G156W Missense 5/9 -
9-5073732-T-C JAK2 c.1811T>C p.L604P Missense 14/25 -
13-103528184-C-A ERCC5 c.3492C>A p.T1164= Synonymous 15/15 -
17-37682453-G-A CDK12 c.3644G>A p.S1215N Missense 13/14 -
2-48027417-C-T MSH6 c.2295C>T p.C765= Synonymous 4/10 -
15-91352484-C-T BLM c.3869C>T p.S1290L Missense 20/22 -
8-48749885-A-G PRKDC c.7646T>C p.I2549T missense_variant 58/87 -
3-37081708-C-G MLH1 c.1590C>G p.F530L Missense 14/19 -
12-56478805-C-A ERBB3 c.261C>A p.V87= Synonymous 3/28 -
13-103504590-C-T ERCC5 c.211C>T p.R71C Missense 2/15 -
17-29663898-C-T NF1 c.6393C>T p.H2131= Synonymous 42/58 -
1-27088789-G-C ARID1A c.2398G>C p.G800R Missense 7/20 -
11-108126963-G-C ATM c.2146G>C p.V716L Missense 14/63 -
11-94204759-G-A MRE11 c.826C>T p.P276S Missense 8/20 -
2-48033635-T-TATTA MSH6 c.3847_3850dup p.T1284Nfs*6 Frameshift 9/10 -
17-37672024-C-T CDK12 c.2809C>T p.Q937* Nonsense 9/14 -
5-131977963-T-C RAD50 c.3846T>C p.Y1282= Synonymous 25/25 -
16-23641338-G-A PALB2 c.2137C>T p.P713S Missense 5/13 -
11-108225473-G-A ATM c.8787-65G>A - IntronicSNV - 60/62
1-156836782-C-A NTRK1 c.428+12C>A - IntronicSNV - 4/16
1-156836782-C-G NTRK1 c.428+12C>G - IntronicSNV - 4/16
1-156836782-C-T NTRK1 c.428+12C>T - IntronicSNV - 4/16
3-41266013-A-G CTNNB1 c.14-4A>G - IntronicSNV - 2/14
16-89805719-C-G FANCA c.4011-22G>C - IntronicSNV - 40/42
16-89858287-C-A FANCA c.1225+48G>T - IntronicSNV - 13/42
16-89858287-C-G FANCA c.1225+48G>C - IntronicSNV - 13/42
16-89858287-C-T FANCA c.1225+48G>A - IntronicSNV - 13/42
16-89858302-G-C FANCA c.1225+33C>G - IntronicSNV - 13/42
16-89849244-C-T FANCA c.1626+23G>A - IntronicSNV - 17/42
16-89865490-G-C FANCA c.893+84C>G - IntronicSNV - 10/42
3-142176613-T-C ATR c.7504-16A>G - IntronicSNV - 44/46
10-50736420-C-T ERCC6 c.652+43G>A - IntronicSNV - 4/20
5-56177369-T-C MAP3K1 c.2370-28T>C - IntronicSNV - 13/19
5-131951692-T-C RAD50 c.3037-3T>C - IntronicSNV - 19/24
11-94168988-C-T MRE11 c.1994+10G>A - IntronicSNV - 18/19
12-56481775-A-G ERBB3 c.733-30A>G - IntronicSNV - 6/27
2-39492308-A-C MAP4K3 c.2136+36T>G - IntronicSNV - 28/33
13-32928936-A-G BRCA2 c.7008-62A>G - IntronicSNV - 13/26
7-55221863-G-T EGFR c.889+18G>T - IntronicSNV - 7/27
7-55238941-G-A EGFR c.1919+35G>A - IntronicSNV - 16/27
7-55238941-G-C EGFR c.1919+35G>C - IntronicSNV - 16/27
7-55238941-G-T EGFR c.1919+35G>T - IntronicSNV - 16/27
2-215645255-G-A BARD1 c.1314+29C>T - IntronicSNV - 4/10
2-215645255-G-C BARD1 c.1314+29C>G - IntronicSNV - 4/10
7-140481511-A-C BRAF c.1315-18T>G - IntronicSNV - 10/17
4-1805568-C-T FGFR3 c.1075+5C>T - IntronicSNV - 8/17
8-30973840-G-A WRN c.2274-30G>A - IntronicSNV - 19/34
8-31004566-T-C WRN c.3384-3T>C - IntronicSNV - 28/34
8-90982565-T-G NBN c.896+27A>C - IntronicSNV - 7/15
15-89828320-C-A FANCI c.1699-7C>A - IntronicSNV - 17/37
9-35076906-C-G FANCG c.778-39G>C - IntronicSNV - 6/13
9-35076906-C-T FANCG c.778-39G>A - IntronicSNV - 6/13
9-35076923-C-A FANCG c.777+45G>T - IntronicSNV - 6/13
9-35076923-C-T FANCG c.777+45G>A - IntronicSNV - 6/13
3-10119928-A-G FANCD2 c.2976+47A>G - IntronicSNV - 30/43
1-27100243-C-T ARID1A c.4004+35C>T - IntronicSNV - 16/19
1-65310410-G-A JAK1 c.2251+27C>T - IntronicSNV - 16/24
3-178947161-T-C PIK3CA c.2597T>C p.L866S Missense 18/21 -
13-103513972-G-A ERCC5 c.788G>A p.R263Q Missense 7/15 -
2-212578301-C-T ERBB4 c.956G>A p.G319E Missense 8/28 -
2-212589866-C-T ERBB4 c.676G>A p.V226I Missense 6/28 -
2-212426697-C-G ERBB4 c.2418G>C p.E806D Missense 20/28 -
16-14041879-C-T ERCC4 c.2426C>T p.T809M Missense 11/11 -
13-103514758-G-A ERCC5 c.1259G>A p.R420H Missense 8/15 -
10-50667133-G-A ERCC6 c.4210C>T p.R1404C Missense 21/21 -
2-29917794-G-A ALK c.874C>T p.R292C Missense 3/29 -
4-55130020-G-A PDGFRA c.554G>A p.G185E Missense 4/23 -
12-46254635-A-G ARID2 c.4825A>G p.S1609G Missense 16/21 -
8-48811031-G-A PRKDC c.3463C>T p.R1155* Nonsense 29/87 -
X-14883509-T-C FANCB c.124A>G p.I42V Missense 3/10 -
1-27105974-A-G ARID1A c.5585A>G p.K1862R Missense 20/20 -
8-90971028-T-C NBN c.1049A>G p.E350G Missense 9/16 -
10-50724187-T-C PGBD3 c.974A>G p.Y325C Missense 2/2 -
2-47606113-A-G EPCAM c.577A>G p.I193V Missense 6/9 -
2-48030586-G-T MSH6 c.3200G>T p.S1067I Missense 5/10 -
2-29416760-G-A ALK c.4193C>T p.P1398L Missense 29/29 -
X-76937243-T-G ATRX c.3505A>C p.K1169Q Missense 9/35 -
1-156811945-C-T INSRR c.3356G>A p.R1119H Missense 19/22 -
2-215610463-G-T BARD1 c.1793C>A p.T598N Missense 8/11 -
8-31000192-C-T WRN c.3284C>T p.P1095L Missense 27/35 -
12-46245657-A-G ARID2 c.3751A>G p.K1251E Missense 15/21 -
14-45633584-G-A FANCM c.1604G>A p.G535D Missense 10/23 -
17-37619236-C-G CDK12 c.912C>G p.P304= Synonymous 1/14 -
17-41246871-C-T BRCA1 c.677G>A p.C226Y Missense 10/23 -
4-1807478-G-C FGFR3 c.1647G>C p.G549= Synonymous 13/18 -
10-123325034-C-T FGFR2 c.294G>A p.T98= Synonymous 3/18 -
12-121416722-G-A HNF1A c.151G>A p.G51S Missense 1/10 -
3-14212047-G-A XPC c.303C>T p.D101= Synonymous 3/16 -
5-112176556-G-A APC c.5265G>A p.A1755= Synonymous 16/16 -
17-37883141-G-A ERBB2 c.3044G>A p.G1015E Missense 25/27 -
11-22646970-G-A FANCF c.387C>T p.L129= Synonymous 1/1 -
8-30998961-G-A WRN c.2983G>A p.A995T Missense 25/35 -
15-40510662-C-T BUB1B c.2856C>T p.D952= Synonymous 22/23 -
2-39514069-C-T MAP4K3 c.1511G>A p.R504Q Missense 21/34 -
2-39499487-C-T MAP4K3 c.1910G>A p.R637K Missense 26/34 -
13-103524647-C-G ERCC5 c.2778C>G p.G926= Synonymous 13/15 -
4-1801061-C-T FGFR3 c.190C>T p.P64S Missense 3/18 -
7-148511206-G-A EZH2 c.1696C>T p.R566C Missense 15/20 -
7-148513823-G-A EZH2 c.1458C>T p.P486= Synonymous 12/20 -
7-148513823-G-C EZH2 c.1458C>G p.P486= Synonymous 12/20 -
2-29474066-G-A ALK c.2109C>T p.N703= Synonymous 12/29 -
8-134025926-CT-TG TG c.6479_6480delCTinsTG p.T2160M Missense 37/48 -
8-48691069-C-T PRKDC c.11803G>A p.G3935S Missense 84/87 -
8-48733471-G-A PRKDC c.9142C>T p.L3048L synonymous_variant 67/87 -
15-89820040-T-C FANCI c.1211T>C p.I404T Missense 13/38 -
8-145742488-G-A RECQL4 c.300C>T p.G100= Synonymous 4/22 -
8-145738842-G-A RECQL4 c.2223C>T p.A741= Synonymous 14/22 -
16-14015932-C-T ERCC4 c.252C>T p.L84= Synonymous 2/11 -
9-98009786-C-T FANCC c.178G>A p.V60I Missense 3/15 -
10-50714020-C-T ERCC6 c.1436G>A p.R479H Missense 6/21 -
1-118166462-T-C TENT5C c.972T>C p.H324= Synonymous 2/2 -
1-11190697-C-A MTOR c.5502G>T p.T1834= Synonymous 39/58 -
8-145742145-C-G RECQL4 c.358G>C p.G120R Missense 5/22 -
1-120483244-C-T NOTCH2 c.3117G>A p.T1039= Synonymous 19/34 -
1-118166195-C-T TENT5C c.705C>T p.N235= Synonymous 2/2 -
1-27107151-C-T ARID1A c.6762C>T p.Y2254= Synonymous 20/20 -
1-27057762-G-A ARID1A c.1470G>A p.P490= Synonymous 3/20 -
8-133919081-A-C TG c.3783A>C p.P1261= Synonymous 17/48 -
16-2129421-G-A TSC2 c.3276G>A p.P1092= Synonymous 28/42 -
16-2138455-G-C TSC2 c.5268G>C p.E1756D Missense 42/42 -
14-45657020-G-A FANCM c.4709G>A p.R1570H Missense 19/23 -
16-2124338-G-A TSC2 c.2493G>A p.T831= Synonymous 22/42 -
19-4117504-G-A MAP2K2 c.216C>T p.F72= Synonymous 2/11 -
5-56161690-G-A MAP3K1 c.1187G>A p.R396H Missense 6/20 -
7-55221714-A-G EGFR c.758A>G p.K253R Missense 7/28 -
7-116340308-C-T MET c.1170C>T p.Y390= Synonymous 2/21 -
7-116339777-G-A MET c.639G>A p.S213= Synonymous 2/21 -
2-212426685-C-T ERBB4 c.2430G>A p.E810= Synonymous 20/28 -
12-56478898-C-T ERBB3 c.354C>T p.F118= Synonymous 3/28 -
16-14031641-C-T ERCC4 c.1830C>T p.Y610= Synonymous 9/11 -
16-14031664-G-A ERCC4 c.1853G>A p.R618H Missense 9/11 -
9-139396504-G-A NOTCH1 c.5421C>T p.D1807= Synonymous 29/34 -
9-139393441-G-A NOTCH1 c.6090C>T p.S2030= Synonymous 33/34 -
9-139391849-G-A NOTCH1 c.6342C>T p.D2114= Synonymous 34/34 -
12-46243365-C-T ARID2 c.1718C>T p.T573M Missense 14/21 -
15-91352443-G-A BLM c.3828G>A p.A1276= Synonymous 20/22 -
5-67593375-C-T PIK3R1 c.2121C>T p.N707= Synonymous 16/16 -
13-103515211-C-T ERCC5 c.1712C>T p.P571L Missense 8/15 -
10-50690821-G-A ERCC6 c.2081C>T p.P694L Missense 10/21 -
1-65339124-A-G JAK1 c.412T>C p.Y138H Missense 5/25 -
8-30938390-A-G WRN c.847A>G p.I283V Missense 9/35 -
7-55240780-G-A EGFR c.2024G>A p.R675Q Missense 17/28 -
15-91303337-T-C BLM c.1088-40T>C - IntronicSNV - 5/21
15-91354640-T-C BLM c.4076+4T>C - IntronicSNV - 21/21
5-131911520-G-A RAD50 c.265G>A p.V89I Missense 3/25 -
8-90992986-C-T NBN c.456G>A p.M152I Missense 4/16 -
1-156848968-C-T NTRK1 c.1860C>T p.G620= Synonymous 15/17 -
10-43596095-A-G RET c.262A>G p.I88V Missense 2/20 -
12-121434120-C-T HNF1A c.1011C>T p.S337= Synonymous 5/10 -
2-215645840-T-C BARD1 c.758A>G p.Q253R Missense 4/11 -
15-91304325-A-G BLM c.1722A>G p.L574= Synonymous 7/22 -
9-98011546-A-C FANCC c.28T>G p.C10G Missense 2/15 -
1-120465364-C-T NOTCH2 c.4897G>A p.V1633I Missense 27/34 -
5-56160617-A-C MAP3K1 c.891A>C p.S297= Synonymous 4/20 -
7-55273028-C-T EGFR c.3351C>T p.P1117= Synonymous 28/28 -
12-121432113-G-A HNF1A c.860G>A p.S287N Missense 4/10 -
1-27094332-C-T ARID1A c.3040C>T p.L1014= Synonymous 11/20 -
10-50701212-G-A ERCC6 c.1772C>T p.P591L Missense 8/21 -
1-118166385-G-A TENT5C c.895G>A p.E299K Missense 2/2 -
6-138202173-G-A TNFAIP3 c.2090G>A p.R697K Missense 9/9 -
16-89815055-C-T FANCA c.3348+12G>A - IntronicSNV - 33/42
17-37666031-A-C CDK12 c.2666+17A>C - IntronicSNV - 7/13
19-4110492-C-A MAP2K2 c.450+15G>T - IntronicSNV - 3/10
19-4102354-T-C MAP2K2 c.528+20A>G - IntronicSNV - 4/10
2-58387185-A-G FANCL c.1092+58T>C - IntronicSNV - 13/13
19-11129600-C-T SMARCA4 c.2439-33C>T - IntronicSNV - 16/34
19-45862194-A-G ERCC2 c.1238-1237T>C - IntronicSNV - 12/22
3-10107215-A-G FANCD2 c.2269+37A>G - IntronicSNV - 24/43
3-10081374-G-A FANCD2 c.571-31G>A - IntronicSNV - 8/43
3-10116146-G-A FANCD2 c.2716-68G>A - IntronicSNV - 28/43
5-56168571-G-A MAP3K1 c.1505+22G>A - IntronicSNV - 8/19
7-116381104-A-G MET c.1701+25A>G - IntronicSNV - 5/20
8-30958497-C-T WRN c.2088+26C>T - IntronicSNV - 18/34
8-30958497-C-G WRN c.2088+26C>G - IntronicSNV - 18/34
8-30921753-A-G WRN c.210-52A>G - IntronicSNV - 3/34
8-145737022-C-T RECQL4 c.3502+42G>A - intron_variant - 21/21
10-43612226-C-A RET c.2284+47C>A - IntronicSNV - 12/19
10-43612226-C-G RET c.2284+47C>G - IntronicSNV - 12/19
17-29483195-G-C NF1 c.204+51G>C - IntronicSNV - 2/57
17-29483195-G-T NF1 c.204+51G>T - IntronicSNV - 2/57
5-112116661-C-T APC c.645+61C>T - IntronicSNV - 6/15
2-58389969-G-C FANCL c.903+32C>G - IntronicSNV - 11/13
12-46230510-A-C ARID2 c.773-14A>C - IntronicSNV - 7/20
3-10188328-C-T VHL c.463+8C>T - IntronicSNV - 2/2
10-123247644-A-C FGFR2 c.1864-17T>G - IntronicSNV - 13/17
10-123247644-A-G FGFR2 c.1864-17T>C - IntronicSNV - 13/17
3-142281971-G-A ATR c.293-20C>T - IntronicSNV - 3/46
19-11170576-G-A SMARCA4 c.4768+15G>A - IntronicSNV - 33/34
19-11170576-G-C SMARCA4 c.4768+15G>C - IntronicSNV - 33/34
11-108202772-G-T ATM c.7788+8G>T - IntronicSNV - 52/62
8-48856474-T-C PRKDC c.778-31A>G - IntronicSNV - 8/86
8-145741142-T-G RECQL4 c.1258+6A>C - IntronicSNV - 6/21
8-48801040-A-G PRKDC c.4410+39T>C - intron_variant - 35/86
17-29677184-C-T NF1 c.7322-17C>T - IntronicSNV - 49/57
1-11181985-G-A MTOR c.6810+51C>T - IntronicSNV - 48/57
17-37866182-G-A ERBB2 c.643+48G>A - IntronicSNV - 5/26
17-37866182-G-C ERBB2 c.643+48G>C - IntronicSNV - 5/26
19-11118711-C-T SMARCA4 c.2123+12C>T - IntronicSNV - 14/34
19-11096851-A-G SMARCA4 c.356-14A>G - IntronicSNV - 3/34
19-11107085-G-A SMARCA4 c.1761+29G>A - IntronicSNV - 10/34
7-55233164-C-T EGFR c.1880+34C>T - IntronicSNV - 15/27
19-40748639-C-T AKT2 c.288-45G>A - IntronicSNV - 4/13
11-125499063-A-G CHEK1 c.290-64A>G - IntronicSNV - 3/12
19-40745923-C-T AKT2 c.639+29G>A - IntronicSNV - 7/13
22-24143308-C-T SMARCB1 c.500+40C>T - IntronicSNV - 4/8
1-65351896-T-C JAK1 c.6+46A>G - IntronicSNV - 2/24
9-139407614-T-C NOTCH1 c.2354-28A>G - IntronicSNV - 14/33
9-139405584-C-T NOTCH1 c.2587+20G>A - IntronicSNV - 16/33
4-1805593-G-A FGFR3 c.1075+30G>A - IntronicSNV - 8/17
4-1805593-G-C FGFR3 c.1075+30G>C - IntronicSNV - 8/17
4-1805593-G-T FGFR3 c.1075+30G>T - IntronicSNV - 8/17
3-142259691-T-C ATR c.3581+55A>G - IntronicSNV - 18/46
4-55155124-G-A PDGFRA c.2775-52G>A - IntronicSNV - 20/22
3-142266778-A-T ATR c.3172-26T>A - IntronicSNV - 15/46
4-1809025-A-G FGFR3 c.*36A>G - 3-UTRSNV 18/18 -
14-35872068-G-A NFKBIA c.548-3C>T - IntronicSNV - 3/5
8-30921970-A-T WRN c.355+20A>T - IntronicSNV - 4/34
8-30925751-T-A WRN c.655-23T>A - IntronicSNV - 6/34
19-45868291-T-A ERCC2 c.477+9A>T - IntronicSNV - 6/22
3-178937346-T-C PIK3CA c.1747-13T>C - IntronicSNV - 11/20
19-11170585-C-A SMARCA4 c.4768+24C>A - IntronicSNV - 33/34
19-11170585-C-T SMARCA4 c.4768+24C>T - IntronicSNV - 33/34
19-45862112-G-A ERCC2 c.1238-1155C>T - IntronicSNV - 12/22
19-45862112-G-C ERCC2 c.1238-1155C>G - IntronicSNV - 12/22
19-45862112-G-T ERCC2 c.1238-1155C>A - IntronicSNV - 12/22
11-108186653-T-C ATM c.6095+15T>C - IntronicSNV - 41/62
12-56495162-A-C ERBB3 c.3502+17A>C - IntronicSNV - 27/27
12-56495162-A-G ERBB3 c.3502+17A>G - IntronicSNV - 27/27
16-89845178-T-TAC FANCA c.1826+30_1826+31insGT - IntronicInsertion - 20/42
16-68847443-G-C CDH1 c.1320+45G>C - IntronicSNV - 9/15
15-40462228-A-G BUB1B c.180-35A>G - IntronicSNV - 2/22
7-148507534-C-CT EZH2 c.1948-29_1948-29dup - IntronicInsertion - 16/19
16-2124241-G-A TSC2 c.2396G>A p.R799H Missense 22/42 -
8-31014939-C-A WRN c.3875C>A p.S1292Y Missense 33/35 -
1-118166492-C-T TENT5C c.1002C>T p.S334= Synonymous 2/2 -
1-120529699-T-C NOTCH2 c.758A>G p.E253G Missense 5/34 -
22-30035084-G-A NF2 c.246G>A p.L82= Synonymous 3/16 -
17-37672045-C-T CDK12 c.2830C>T p.Q944* Nonsense 9/14 -
10-123256163-G-A FGFR2 c.1746C>T p.P582= Synonymous 13/18 -
1-2491341-C-T TNFRSF14 c.384C>T p.I128= Synonymous 4/8 -
19-45854979-C-T ERCC2 c.2191G>A p.E731K Missense 23/23 -
10-50713944-G-A ERCC6 c.1512C>T p.F504= Synonymous 6/21 -
9-139396861-G-A NOTCH1 c.5247C>T p.F1749= Synonymous 28/34 -
4-55127443-C-T PDGFRA c.231C>T p.N77= Synonymous 3/23 -
7-55273279-C-A EGFR c.3602C>A p.A1201E Missense 28/28 -
8-48771157-G-A PRKDC c.6384C>T p.L2128= Synonymous 49/87 -
8-48749902-G-A PRKDC c.7631C>T p.S2543S Missense 58/87 -
5-67589197-A-G PIK3R1 c.1185A>G p.P395= Synonymous 10/16 -
15-89811688-A-G FANCI c.814A>G p.I272V Missense 10/38 -
9-5064921-C-G JAK2 c.1095C>G p.F365L Missense 9/25 -
8-133919075-A-G TG c.3777A>G p.P1259= Synonymous 17/48 -
1-27099883-C-T ARID1A c.3762C>T p.G1254= Synonymous 15/20 -
17-37619038-G-A CDK12 c.714G>A p.S238= Synonymous 1/14 -
17-37682292-G-A CDK12 c.3483G>A p.T1161= Synonymous 13/14 -
19-4110552-C-G MAP2K2 c.405G>C p.G135= Synonymous 3/11 -
3-10115043-C-T FANCD2 c.2712C>T p.N904= Synonymous 28/44 -
X-76891446-A-G ATRX c.4659T>C p.H1553= Synonymous 16/35 -
12-46254625-C-T ARID2 c.4815C>T p.G1605= Synonymous 16/21 -
8-48691066-C-T PRKDC c.11806G>A p.G3935D Missense 84/87 -
5-56178615-A-C MAP3K1 c.3588A>C p.S1196= Synonymous 14/20 -
16-396909-G-A AXIN1 c.117C>T p.P39= Synonymous 2/11 -
8-145740622-C-T RECQL4 c.1395G>A p.T465= Synonymous 8/22 -
12-121432117-G-A HNF1A c.864G>A p.G288= Synonymous 4/10 -
12-121432141-A-C HNF1A c.888A>C p.G296= Synonymous 4/10 -
19-1221284-G-A STK11 c.807G>A p.K269= Synonymous 6/10 -
4-1806187-C-T FGFR3 c.1206C>T p.P402= Synonymous 9/18 -
7-55248991-C-G EGFR c.2289C>G p.A763= Synonymous 20/28 -
12-121432192-C-T HNF1A c.939C>T p.S313= Synonymous 4/10 -
12-121432126-A-G HNF1A c.873A>G p.P291= Synonymous 4/10 -
4-1806211-C-G FGFR3 c.1230C>G p.T410= Synonymous 9/18 -
4-1806232-C-T FGFR3 c.1251C>T p.F417= Synonymous 9/18 -
14-45620699-C-T FANCM c.1018C>T p.Q340* Nonsense 5/23 -
2-212289001-G-A ERBB4 c.2745C>T p.T915= Synonymous 23/28 -
11-108138028-T-C ATM c.2597T>C p.V866A Missense 17/63 -
12-121432123-C-A HNF1A c.870C>A p.P290= Synonymous 4/10 -
6-138202258-G-A TNFAIP3 c.2175G>A p.L725= Synonymous 9/9 -
7-148526908-A-G EZH2 c.396T>C p.P132= Synonymous 5/20 -
11-108128299-A-G ATM c.2342A>G p.Q781R Missense 15/63 -
19-1223004-C-T STK11 c.941C>T p.P314L Missense 8/10 -
16-14041719-G-A ERCC4 c.2266G>A p.V756M Missense 11/11 -
4-55139765-A-C PDGFRA c.1426A>C p.I476L Missense 10/23 -
2-212288968-C-G ERBB4 c.2778G>C p.T926= Synonymous 23/28 -
2-212288931-A-G ERBB4 c.2815T>C p.L939= Synonymous 23/28 -
2-212288935-T-C ERBB4 c.2811A>G p.E937= Synonymous 23/28 -
2-212288947-T-C ERBB4 c.2799A>G p.L933= Synonymous 23/28 -
2-212288949-A-G ERBB4 c.2797T>C p.L933= Synonymous 23/28 -
2-212288956-A-G ERBB4 c.2790T>C p.P930= Synonymous 23/28 -
22-24133957-C-G SMARCB1 c.108C>G p.L36= Synonymous 2/9 -
22-24134003-A-C SMARCB1 c.154A>C p.R52= Synonymous 2/9 -
11-94180388-T-C MRE11 c.1780A>G p.R594G Missense 15/20 -
1-11288950-C-T MTOR c.2805G>A p.L935= Synonymous 19/58 -
X-15841063-C-G ZRSR2 c.1147C>G p.P383A Missense 11/11 -
16-348011-C-T AXIN1 c.1495G>A p.V499M Missense 6/11 -
1-65306945-T-C JAK1 c.2632A>G p.I878V Missense 19/25 -
13-32971023-T-C BRCA2 c.9502-12T>C - IntronicSNV - 25/26
13-32971023-T-G BRCA2 c.9502-12T>G - IntronicSNV - 25/26
11-108155013-A-G ATM c.3806A>G p.K1269R Missense 26/63 -
17-37618749-C-A CDK12 c.425C>A p.S142* Nonsense 1/14 -
17-37657656-G-A CDK12 c.2573G>A p.R858Q Missense 6/14 -
1-156851274-G-A NTRK1 c.2231G>A p.R744H Missense 17/17 -
4-55131126-C-T PDGFRA c.669C>T p.T223= Synonymous 5/23 -
19-4117516-T-C MAP2K2 c.204A>G p.K68= Synonymous 2/11 -
20-36024651-G-A SRC c.640G>A p.G214S Missense 8/14 -
16-14041629-C-T ERCC4 c.2176C>T p.R726C Missense 11/11 -
2-29416418-G-A ALK c.4535C>T p.T1512I Missense 29/29 -
5-56160695-G-A MAP3K1 c.969G>A p.G323= Synonymous 4/20 -
9-139399941-G-A NOTCH1 c.4407C>T p.N1469= Synonymous 25/34 -
19-40741001-G-A AKT2 c.1317C>T p.F439= Synonymous 13/14 -
17-41267810-G-A BRCA1 c.81-14C>T - IntronicSNV - 2/22
17-41267810-G-C BRCA1 c.81-14C>G - IntronicSNV - 2/22
17-41267810-G-T BRCA1 c.81-14C>A - IntronicSNV - 2/22
13-32944741-C-A BRCA2 c.8487+47C>A - IntronicSNV - 19/26
13-32905024-A-G BRCA2 c.682-32A>G - IntronicSNV - 8/26
13-32900634-A-C BRCA2 c.517-2A>C - IntronicSNV - 6/26
13-32900634-A-G BRCA2 c.517-2A>G - IntronicSNV - 6/26
1-11182183-G-A MTOR c.6663C>T p.S2221= Synonymous 48/58 -
4-1807166-C-T FGFR3 c.1497C>T p.A499= Synonymous 11/18 -
15-66774160-C-T MAP2K1 c.636C>T p.S212= Synonymous 6/11 -
16-396603-C-T AXIN1 c.423G>A p.A141= Synonymous 2/11 -
16-2114320-C-T TSC2 c.1491C>T p.P497= Synonymous 15/42 -
14-35871201-C-G NFKBIA c.*18G>C - 3-UTRSNV 6/6 -
3-14220090-C-A XPC c.1-22G>T - 5-UTRSNV 1/16 -
3-14220090-C-T XPC c.1-22G>A - 5-UTRSNV 1/16 -
10-123325043-C-T FGFR2 c.285G>A p.K95= Synonymous 3/18 -
10-123260353-C-T FGFR2 c.1548G>A p.V516= Synonymous 11/18 -
1-27107000-C-T ARID1A c.6611C>T p.A2204V Missense 20/20 -
17-29687543-G-A NF1 c.8199G>A p.K2733= Synonymous 57/58 -
2-29498283-C-T ALK c.1897G>A p.D633N Missense 10/29 -
15-91347568-G-A BLM c.3730G>A p.V1244I Missense 19/22 -
2-39487824-C-T MAP4K3 c.2231G>A p.R744K Missense 29/34 -
11-47238498-G-A DDB2 c.354G>A p.A118= Synonymous 3/10 -
2-48030714-C-T MSH6 c.3328C>T p.P1110S Missense 5/10 -
6-35423914-G-A FANCE c.639G>A p.G213= Synonymous 2/10 -
9-35075746-G-A FANCG c.1149C>T p.S383= Synonymous 10/14 -
3-142274810-T-C ATR c.2250A>G p.Q750= Synonymous 10/47 -
7-116339504-C-T MET c.366C>T p.V122= Synonymous 2/21 -
2-212426691-G-A ERBB4 c.2424C>T p.V808= Synonymous 20/28 -
10-89720794-T-G PTEN c.945T>G p.Y315* Nonsense 8/9 -
19-45867724-C-T ERCC2 c.676G>A p.A226T Missense 8/23 -
2-212483991-C-T ERBB4 c.2212G>A p.V738I Missense 19/28 -
8-133935602-G-A TG c.4548G>A p.R1516= Synonymous 22/48 -
1-11190674-G-A MTOR c.5525C>T p.A1842V Missense 39/58 -
9-135781428-G-A TSC1 c.1537C>T p.P513S Missense 15/23 -
9-135781444-A-G TSC1 c.1521T>C p.F507= Synonymous 15/23 -
19-11105597-G-A SMARCA4 c.1513G>A p.A505T Missense 9/35 -
16-89805886-C-T FANCA c.4010G>A p.S1337N Missense 40/43 -
16-89882393-C-T FANCA c.81G>A p.A27= Synonymous 2/43 -
12-46233253-C-G ARID2 c.1472C>G p.T491S Missense 11/21 -
12-46254590-C-G ARID2 c.4780C>G p.P1594A Missense 16/21 -
12-46246584-G-A ARID2 c.4678G>A p.A1560T Missense 15/21 -
5-112128202-A-G APC c.705A>G p.L235= Synonymous 7/16 -
5-112174762-G-A APC c.3471G>A p.E1157= Synonymous 16/16 -
14-75515125-T-C MLH3 c.1234A>G p.K412E Missense 2/13 -
17-37883669-C-T ERBB2 c.3281C>T p.A1094V Missense 26/27 -
8-31000198-A-G WRN c.3290A>G p.E1097G Missense 27/35 -
17-37864647-G-A ERBB2 c.299G>A p.R100Q Missense 3/27 -
17-37866429-C-T ERBB2 c.734C>T p.T245M Missense 6/27 -
19-4117609-C-G MAP2K2 c.111G>C p.L37= Synonymous 2/11 -
16-68857457-G-A CDH1 c.2092G>A p.A698T Missense 13/16 -
19-11095045-A-G SMARCA4 c.218A>G p.H73R Missense 2/35 -
9-139400040-G-A NOTCH1 c.4308C>T p.A1436= Synonymous 25/34 -
1-27057815-C-A ARID1A c.1523C>A p.P508Q Missense 3/20 -
1-27101636-A-G ARID1A c.4918A>G p.T1640A Missense 18/20 -
1-27105636-G-A ARID1A c.5247G>A p.R1749= Synonymous 20/20 -
1-27106025-G-A ARID1A c.5636G>A p.R1879Q Missense 20/20 -
1-45798256-G-A MUTYH c.596C>T p.A199V Missense 8/16 -
12-56494872-C-T ERBB3 c.3229C>T p.R1077W Missense 27/28 -
13-103510688-C-A ERCC5 c.592C>A p.P198T Missense 6/15 -
12-121416728-G-A HNF1A c.157G>A p.G53S Missense 1/10 -
4-55143693-G-A PDGFRA c.1891+34G>A - IntronicSNV - 13/22
10-123247550-G-A FGFR2 c.1941C>T p.L647= Synonymous 14/18 -
16-89849468-A-C FANCA c.1513T>G p.S505A Missense 16/43 -
20-36024599-C-T SRC c.588C>T p.N196= Synonymous 8/14 -
12-46211568-C-T ARID2 c.534C>T p.N178= Synonymous 5/21 -
7-55241607-C-G EGFR c.2062-7C>G - IntronicSNV - 17/27
8-145740707-C-T RECQL4 c.1390+3G>A - IntronicSNV - 7/21
14-75516021-T-C MLH3 c.338A>G p.K113R Missense 2/13 -
7-55273218-G-A EGFR c.3541G>A p.A1181T Missense 28/28 -
15-40512836-C-T BUB1B c.3029C>T p.S1010F Missense 23/23 -
5-131945081-C-T RAD50 c.3029C>T p.T1010I Missense 19/25 -
5-131911536-T-C RAD50 c.281T>C p.I94T Missense 3/25 -
8-48772180-G-A PRKDC c.6196C>T p.R2066W missense_variant 47/87 -
2-212543930-G-A ERBB4 c.1490-21C>T - IntronicSNV - 12/27
2-212543930-G-C ERBB4 c.1490-21C>G - IntronicSNV - 12/27
2-212251537-G-A ERBB4 c.3481+41C>T - IntronicSNV - 27/27
2-212251537-G-T ERBB4 c.3481+41C>A - IntronicSNV - 27/27
5-131972916-A-G RAD50 c.3475+24A>G - IntronicSNV - 22/24
22-30069392-G-A NF2 c.1257G>A p.T419= Synonymous 12/16 -
22-30069383-G-C NF2 c.1248G>C p.A416= Synonymous 12/16 -
9-139438537-G-T NOTCH1 c.79C>A p.P27T Missense 2/34 -
5-131931341-C-A RAD50 c.2046C>A p.P682= Synonymous 13/25 -
1-11188138-C-T MTOR c.5956G>A p.A1986T Missense 43/58 -
9-5072536-C-T JAK2 c.1686C>T p.G562= Synonymous 13/25 -
11-533779-T-C HRAS c.277A>G p.I93V Missense 3/6 -
1-27087448-T-C ARID1A c.2022T>C p.S674= Synonymous 5/20 -
1-27087466-T-C ARID1A c.2040T>C p.P680= Synonymous 5/20 -
1-27087469-C-T ARID1A c.2043C>T p.F681= Synonymous 5/20 -
1-27087478-T-C ARID1A c.2052T>C p.H684= Synonymous 5/20 -
1-27101482-T-C ARID1A c.4764T>C p.P1588= Synonymous 18/20 -
1-27101500-A-C ARID1A c.4782A>C p.P1594= Synonymous 18/20 -
1-27100182-G-A ARID1A c.3978G>A p.P1326= Synonymous 16/20 -
1-27100182-G-T ARID1A c.3978G>T p.P1326= Synonymous 16/20 -
1-27106620-C-T ARID1A c.6231C>T p.P2077= Synonymous 20/20 -
1-27106629-T-C ARID1A c.6240T>C p.I2080= Synonymous 20/20 -
1-27106980-C-T ARID1A c.6591C>T p.G2197= Synonymous 20/20 -
1-27106986-A-G ARID1A c.6597A>G p.L2199= Synonymous 20/20 -
2-29519852-G-A ALK c.1719C>T p.T573= Synonymous 9/29 -
7-116419011-T-G MET c.3522T>G p.H1174Q Missense 17/21 -
12-58145360-T-C CDK4 c.141A>G p.G47= Synonymous 2/8 -
12-58145367-C-G CDK4 c.134G>C p.G45A Missense 2/8 -
12-58145370-C-G CDK4 c.131G>C p.G44A Missense 2/8 -
12-58145381-G-A CDK4 c.120C>T p.P40= Synonymous 2/8 -
12-58145384-G-A CDK4 c.117C>T p.V39= Synonymous 2/8 -
11-108205834-A-C ATM c.8149A>C p.K2717Q Missense 55/63 -
17-29490233-A-G NF1 c.318A>G p.E106= Synonymous 4/58 -
17-29490251-G-A NF1 c.336G>A p.Q112= Synonymous 4/58 -
17-29490254-G-A NF1 c.339G>A p.L113= Synonymous 4/58 -
17-29490257-G-A NF1 c.342G>A p.L114= Synonymous 4/58 -
17-29490287-T-C NF1 c.372T>C p.C124= Synonymous 4/58 -
17-29585400-A-C NF1 c.4212A>C p.A1404= Synonymous 32/58 -
17-29585427-T-C NF1 c.4239T>C p.F1413= Synonymous 32/58 -
17-29585448-A-G NF1 c.4260A>G p.S1420= Synonymous 32/58 -
17-37618366-T-C CDK12 c.42T>C p.S14= Synonymous 1/14 -
17-37618405-C-T CDK12 c.81C>T p.G27= Synonymous 1/14 -
17-37618414-T-C CDK12 c.90T>C p.S30= Synonymous 1/14 -
17-37618423-A-G CDK12 c.99A>G p.R33= Synonymous 1/14 -
17-37618441-A-G CDK12 c.117A>G p.V39= Synonymous 1/14 -
17-37657561-T-A CDK12 c.2478T>A p.S826= Synonymous 6/14 -
17-37686981-A-T CDK12 c.3885A>T p.P1295= Synonymous 14/14 -
17-37686993-C-T CDK12 c.3897C>T p.A1299= Synonymous 14/14 -
8-145741413-C-T RECQL4 c.1090G>A p.V364M Missense 5/22 -
14-45645032-T-G FANCM c.3075T>G p.C1025W Missense 14/23 -
8-30938848-A-G WRN c.1269+36A>G - IntronicSNV - 9/34
13-32944741-C-G BRCA2 c.8487+47C>G - IntronicSNV - 19/26
3-142281494-G-C ATR c.750C>G p.S250R Missense 4/47 -
17-63554595-G-A AXIN2 c.144C>T p.P48= Synonymous 2/11 -
17-33434422-G-A RAD51D c.308C>T p.T103I Missense 4/10 -
8-30921954-G-C WRN c.355+4G>C - IntronicSNV - 4/34
17-29587544-C-G NF1 c.4577+11C>G - IntronicSNV - 34/57
12-46233317-G-A ARID2 c.1498+38G>A - IntronicSNV - 11/20
7-148526807-G-A EZH2 c.484+13C>T - IntronicSNV - 5/19
17-29679401-A-G NF1 c.7584A>G p.Q2528= Synonymous 51/58 -
3-41266689-C-T CTNNB1 c.486C>T p.D162= Synonymous 4/15 -
11-94201045-A-C MRE11 c.1032T>G p.L344= Synonymous 10/20 -
1-27094385-T-A ARID1A c.3093T>A p.T1031= Synonymous 11/20 -
X-15809095-G-C ZRSR2 c.80G>C p.R27P Missense 2/11 -
19-11135078-C-T SMARCA4 c.3045C>T p.G1015= Synonymous 21/35 -
12-25362783-G-A KRAS c.513C>T p.S171= Synonymous 5/5 -
12-121437162-C-T HNF1A c.1593C>T p.S531= Synonymous 8/10 -
3-142204116-G-A ATR c.6087C>T p.T2029= Synonymous 36/47 -
17-37884060-G-A ERBB2 c.3531G>A p.K1177= Synonymous 27/27 -
X-15838411-C-T ZRSR2 c.909C>T p.P303= Synonymous 10/11 -
17-79478213-C-A ACTG1 c.802+1G>T - IntronicSNV - 4/5
17-37883791-C-T ERBB2 c.3403C>T p.P1135S Missense 26/27 -
17-37871745-C-T ERBB2 c.1269C>T p.S423= Synonymous 11/27 -
8-31014964-C-A WRN c.3900C>A p.P1300= Synonymous 33/35 -
8-128752694-G-A MYC c.855G>A p.R285= Synonymous 3/3 -
16-339499-C-T AXIN1 c.2403G>A p.R801= Synonymous 10/11 -
1-11316244-C-G MTOR c.510G>C p.L170= Synonymous 5/58 -
8-48691068-G-A PRKDC c.11802C>T p.G3934G synonymous_variant 84/87 -
3-142269106-T-G ATR c.2844A>C p.A948= Synonymous 14/47 -
17-37881349-C-T ERBB2 c.2541C>T p.A847= Synonymous 21/27 -
12-46240664-T-C ARID2 c.1524T>C p.H508= Synonymous 12/21 -
13-103514609-T-A ERCC5 c.1110T>A p.R370= Synonymous 8/15 -
1-118166331-A-G TENT5C c.841A>G p.I281V Missense 2/2 -
13-49047453-A-G RB1 c.2490-43A>G - IntronicSNV - 23/26
10-89624340-C-T PTEN c.79+35C>T - IntronicSNV - 1/8
1-11199536-C-A MTOR c.4999-44G>T - IntronicSNV - 35/57
1-11199536-C-T MTOR c.4999-44G>A - IntronicSNV - 35/57
10-123256285-C-T FGFR2 c.1673-49G>A - IntronicSNV - 12/17
8-90958335-A-G NBN c.2070+33T>C - IntronicSNV - 13/15
2-215657231-C-A BARD1 c.216-62G>T - IntronicSNV - 2/10
2-215657231-C-T BARD1 c.216-62G>A - IntronicSNV - 2/10
13-103519251-C-T ERCC5 c.2533+56C>T - IntronicSNV - 11/14
19-11169381-G-A SMARCA4 c.4534-83G>A - IntronicSNV - 31/34
19-11169381-G-T SMARCA4 c.4534-83G>T - IntronicSNV - 31/34
11-94225779-C-CA MRE11 c.20+168_20+168dup - IntronicInsertion - 2/19
3-37061777-T-A MLH1 c.885-24T>A - IntronicSNV - 10/18
10-43617536-G-A RET c.2801+72G>A - IntronicSNV - 16/19
3-10119937-G-A FANCD2 c.2976+56G>A - IntronicSNV - 30/43
12-56480474-C-A ERBB3 c.547+34C>A - IntronicSNV - 4/27
12-56480474-C-T ERBB3 c.547+34C>T - IntronicSNV - 4/27
15-91308514-G-T BLM c.2075-12G>T - IntronicSNV - 8/21
14-45624688-G-A FANCM c.1396+26G>A - IntronicSNV - 8/22
19-11151970-A-G SMARCA4 c.4171-13A>G - IntronicSNV - 29/34
17-47688929-A-G SPOP c.481-110T>C - IntronicSNV - 5/9
8-48801554-G-A PRKDC c.4277+21C>T - intron_variant - 34/86
8-48801554-G-T PRKDC c.4277+21C>A - intron_variant - 34/86
16-89866075-T-C FANCA c.793-29A>G - IntronicSNV - 8/42
16-89866075-T-G FANCA c.793-29A>C - IntronicSNV - 8/42
2-47604148-T-C EPCAM c.492-5T>C - IntronicSNV - 4/8
17-12043055-G-C MAP2K4 c.1041-101G>C - IntronicSNV - 9/10
3-142268274-A-G ATR c.3171+47T>C - IntronicSNV - 15/46
16-2132583-G-A TSC2 c.3883+78G>A - IntronicSNV - 32/41
2-47702102-G-A MSH2 c.1760-62G>A - IntronicSNV - 11/15
17-63534502-A-G AXIN2 c.1060-41T>C - IntronicSNV - 4/10
1-11316023-T-C MTOR c.705+26A>G - IntronicSNV - 5/57
17-47685214-A-G SPOP c.714+22T>C - IntronicSNV - 7/9
5-80024608-A-G MSH3 c.1454-62A>G - IntronicSNV - 9/23
22-24135703-A-G SMARCB1 c.233-43A>G - IntronicSNV - 2/8
22-24135703-A-T SMARCB1 c.233-43A>T - IntronicSNV - 2/8
1-11319566-T-C MTOR c.1-100A>G - IntronicSNV - 1/57
3-142268277-C-T ATR c.3171+44G>A - IntronicSNV - 15/46
19-11170577-G-A SMARCA4 c.4768+16G>A - IntronicSNV - 33/34
3-142243089-G-C ATR c.3946-48C>G - IntronicSNV - 21/46
3-142243089-G-T ATR c.3946-48C>A - IntronicSNV - 21/46
1-11175404-A-G MTOR c.7089+49T>C - IntronicSNV - 51/57
19-11107295-G-A SMARCA4 c.1812+75G>A - IntronicSNV - 11/34
17-56770266-T-C RAD51C c.145+117T>C - IntronicSNV - 1/8
19-11170677-A-C SMARCA4 c.4769-44A>C - IntronicSNV - 33/34
19-11170677-A-G SMARCA4 c.4769-44A>G - IntronicSNV - 33/34
10-43612225-G-A RET c.2284+46G>A - IntronicSNV - 12/19
10-43612225-G-T RET c.2284+46G>T - IntronicSNV - 12/19
7-116409950-T-C MET c.2730+105T>C - IntronicSNV - 12/20
15-89843456-A-G FANCI c.2804-75A>G - IntronicSNV - 25/37
9-139408952-C-T NOTCH1 c.2207+10G>A - IntronicSNV - 13/33
12-121434302-G-T HNF1A c.1108-42G>T - IntronicSNV - 5/9
1-120459433-G-A NOTCH2 c.6028-116C>T - IntronicSNV - 33/33
3-178939018-T-C PIK3CA c.2187+73T>C - IntronicSNV - 14/20
1-120467876-G-A NOTCH2 c.4511+52C>T - IntronicSNV - 25/33
5-56152603-T-C MAP3K1 c.633+26T>C - IntronicSNV - 2/19
5-67569342-T-C PIK3R1 c.427+32T>C - IntronicSNV - 3/15
3-10109060-C-G FANCD2 c.2494+59C>G - IntronicSNV - 26/43
5-67593432-C-A PIK3R1 c.*3C>A - 3-UTRSNV 16/16 -
5-67593432-C-T PIK3R1 c.*3C>T - 3-UTRSNV 16/16 -
11-94169154-C-T MRE11 c.1927-89G>A - IntronicSNV - 17/19
20-36031055-C-T SRC c.1270+64C>T - IntronicSNV - 12/13
14-75489756-G-A MLH3 c.3988-35C>T - IntronicSNV - 9/12
2-215661710-T-C BARD1 c.215+75A>G - IntronicSNV - 2/10
22-29108082-29108083---TATTAGAATTTACAGACATTCCA CHEK2 c.684-100_684-78dup - intron_variant - 5/14
13-48953830-G-A RB1 c.1389+44G>A - IntronicSNV - 14/26
1-45799988-C-T MUTYH c.115+75G>A - IntronicSNV - 2/15
19-11095067-C-T SMARCA4 c.222+18C>T - IntronicSNV - 2/34
1-45797548-C-T MUTYH c.914-27G>A - IntronicSNV - 11/15
15-66679819-G-A MAP2K1 c.80+54G>A - IntronicSNV - 1/10
15-66679819-G-C MAP2K1 c.80+54G>C - IntronicSNV - 1/10
1-120509989-G-C NOTCH2 c.1453+67C>G - IntronicSNV - 8/33
13-103515561-C-G ERCC5 c.1954+108C>G - IntronicSNV - 8/14
13-103515561-C-T ERCC5 c.1954+108C>T - IntronicSNV - 8/14
11-108150352-T-A ATM c.3402+17T>A - IntronicSNV - 23/62
11-108150352-T-C ATM c.3402+17T>C - IntronicSNV - 23/62
11-108115478-C-G ATM c.663-37C>G - IntronicSNV - 6/62
11-108115478-C-T ATM c.663-37C>T - IntronicSNV - 6/62
14-35871922-C-T NFKBIA c.637-53G>A - IntronicSNV - 4/5
1-11276341-C-A MTOR c.3031-50G>T - IntronicSNV - 19/57
1-11276341-C-T MTOR c.3031-50G>A - IntronicSNV - 19/57
19-11130195-G-A SMARCA4 c.2506-72G>A - IntronicSNV - 17/34
15-66679684-A-C MAP2K1 c.1-2A>C - 5-UTRSNV 1/11 -
15-66679684-A-G MAP2K1 c.1-2A>G - 5-UTRSNV 1/11 -
1-11188882-C-A MTOR c.5811+30G>T - IntronicSNV - 41/57
1-11188882-C-T MTOR c.5811+30G>A - IntronicSNV - 41/57
9-21968712-C-A CDKN2A c.458-471G>T - IntronicSNV - 2/2
14-75497239-G-A MLH3 c.3987+7C>T - IntronicSNV - 9/12
14-75497239-G-T MLH3 c.3987+7C>A - IntronicSNV - 9/12
1-120468487-T-C NOTCH2 c.4006-54A>G - IntronicSNV - 24/33
11-108126874-T-C ATM c.2125-68T>C - IntronicSNV - 13/62
1-11199518-T-C MTOR c.4999-26A>G - IntronicSNV - 35/57
22-24167657-G-GAA SMARCB1 c.986+57_986+58dup - IntronicInsertion - 7/8
1-11300338-A-G MTOR c.1786+22T>C - IntronicSNV - 11/57
1-11303146-G-A MTOR c.1412+25C>T - IntronicSNV - 9/57
1-11199541-G-A MTOR c.4998+49C>T - IntronicSNV - 35/57
14-104169706-C-T XRCC3 c.407-42G>A - IntronicSNV - 6/9
1-11298739-T-C MTOR c.1787-65A>G - IntronicSNV - 11/57
17-47679209-T-C SPOP c.980+18A>G - IntronicSNV - 9/9
X-76907571-C-T ATRX c.4557+33G>A - IntronicSNV - 15/34
19-4102586-G-A MAP2K2 c.451-135C>T - IntronicSNV - 3/10
1-11194591-G-A MTOR c.5131-68C>T - IntronicSNV - 36/57
5-56176498-C-G MAP3K1 c.2088-40C>G - IntronicSNV - 11/19
19-40741694-C-T AKT2 c.1175+103G>A - IntronicSNV - 11/13
2-212522450-C-T ERBB4 c.1946+29G>A - IntronicSNV - 16/27
2-215595069-T-G BARD1 c.2001+66A>C - IntronicSNV - 10/10
8-48803086-C-T PRKDC c.3845-45G>A - intron_variant - 32/86
2-47703717-G-A MSH2 c.2210+7G>A - IntronicSNV - 13/15
12-46285934-C-T ARID2 c.5147+55C>T - IntronicSNV - 18/20
19-11136006-A-C SMARCA4 c.3082-92A>C - IntronicSNV - 21/34
19-11136006-A-G SMARCA4 c.3082-92A>G - IntronicSNV - 21/34
19-11136006-A-T SMARCA4 c.3082-92A>T - IntronicSNV - 21/34
5-131915279-A-G RAD50 c.551+85A>G - IntronicSNV - 4/24
1-11193072-G-A MTOR c.5364+65C>T - IntronicSNV - 38/57
2-212248283-G-A ERBB4 c.*57C>T - 3-UTRSNV 28/28 -
2-212248283-G-T ERBB4 c.*57C>A - 3-UTRSNV 28/28 -
2-47600591-T-A EPCAM c.77-11T>A - IntronicSNV - 1/8
2-47600591-T-C EPCAM c.77-11T>C - IntronicSNV - 1/8
17-12032636-G-A MAP2K4 c.1040+32G>A - IntronicSNV - 9/10
17-12032636-G-C MAP2K4 c.1040+32G>C - IntronicSNV - 9/10
17-12032636-G-T MAP2K4 c.1040+32G>T - IntronicSNV - 9/10
4-55161478-C-T PDGFRA c.*39C>T - 3-UTRSNV 23/23 -
11-108198551-G-T ATM c.7089+66G>T - IntronicSNV - 48/62
3-10191448-G-T VHL c.464-23G>T - IntronicSNV - 2/2
19-40748648-C-T AKT2 c.288-54G>A - IntronicSNV - 4/13
12-46298877-A-C ARID2 c.*16A>C - 3-UTRSNV 21/21 -
2-39478932-C-T MAP4K3 c.2597+39G>A - IntronicSNV - 33/33
1-11169863-C-T MTOR c.7367-77G>A - IntronicSNV - 54/57
11-47259771-C-G DDB2 c.1234+37C>G - IntronicSNV - 9/9
11-47259771-C-T DDB2 c.1234+37C>T - IntronicSNV - 9/9
5-56178718-T-C MAP3K1 c.3666+25T>C - IntronicSNV - 14/19
7-55223489-C-T EGFR c.890-34C>T - IntronicSNV - 7/27
13-103514350-A-G ERCC5 c.881-30A>G - IntronicSNV - 7/14
X-76888654-T-A ATRX c.5134+41A>T - IntronicSNV - 19/34
X-76888654-T-C ATRX c.5134+41A>G - IntronicSNV - 19/34
9-139402404-C-G NOTCH1 c.3510+3G>C - IntronicSNV - 21/33
9-139402404-C-T NOTCH1 c.3510+3G>A - IntronicSNV - 21/33
7-116335828-G-A MET c.1-3311G>A - IntronicSNV - 1/20
7-116335828-G-C MET c.1-3311G>C - IntronicSNV - 1/20
19-1223734-G-A STK11 c.1108+563G>A - IntronicSNV - 8/9
19-45855057-C-CA ERCC2 c.2191-79_2191-78insT - IntronicInsertion - 22/22
7-116380189-A-G MET c.1527+51A>G - IntronicSNV - 4/20
8-48710970-A-G PRKDC c.10295-12T>C - splice_polypyrimidine_tract_variant,intron_variant - 73/86
8-48847705-T-G PRKDC c.1448-87A>C - IntronicSNV - 13/86
9-139402888-G-A NOTCH1 c.3172-51C>T - IntronicSNV - 19/33
8-30969396-C-T WRN c.2273+81C>T - IntronicSNV - 19/34
19-4110478-G-A MAP2K2 c.450+29C>T - IntronicSNV - 3/10
2-47657131-C-A MSH2 c.1276+51C>A - IntronicSNV - 7/15
2-47657131-C-G MSH2 c.1276+51C>G - IntronicSNV - 7/15
16-14027959-T-C ERCC4 c.1103-90T>C - IntronicSNV - 6/10
14-68758552-T-C RAD51B c.757-49T>C - IntronicSNV - 7/10
3-37070188-T-C MLH1 c.1410-87T>C - IntronicSNV - 12/18
3-37070188-T-G MLH1 c.1410-87T>G - IntronicSNV - 12/18
3-37053487-C-T MLH1 c.589-15C>T - IntronicSNV - 7/18
8-145740510-C-G RECQL4 c.1483+24G>C - IntronicSNV - 8/21
8-145740510-C-T RECQL4 c.1483+24G>A - IntronicSNV - 8/21
3-142286833-C-T ATR c.151+72G>A - IntronicSNV - 2/46
3-142217657-G-A ATR c.5381-41C>T - IntronicSNV - 31/46
3-142217657-G-T ATR c.5381-41C>A - IntronicSNV - 31/46
19-40741306-G-A AKT2 c.1176-49C>T - IntronicSNV - 11/13
19-40741306-G-C AKT2 c.1176-49C>G - IntronicSNV - 11/13
1-156849775-T-C NTRK1 c.2047-16T>C - IntronicSNV - 15/16
3-142259898-C-G ATR c.3451-22G>C - IntronicSNV - 17/46
2-47612298-C-T EPCAM c.859-7C>T - IntronicSNV - 7/8
1-65309980-G-A JAK1 c.2252-82C>T - IntronicSNV - 16/24
8-48690186-A-G PRKDC c.12039+61T>C - intron_variant - 85/86
8-145737490-G-A RECQL4 c.3236+37C>T - intron_variant - 19/21
2-29450605-G-A ALK c.2816-67C>T - IntronicSNV - 16/28
9-97869554-G-A FANCC c.1330-3C>T - IntronicSNV - 13/14
14-75498727-G-A MLH3 c.3827+44C>T - IntronicSNV - 8/12
5-131924329-C-T RAD50 c.1052-50C>T - IntronicSNV - 7/24
8-90993150-C-G NBN c.321-29G>C - IntronicSNV - 3/15
8-90993150-C-T NBN c.321-29G>A - IntronicSNV - 3/15
7-55249190-T-C EGFR c.2469+19T>C - IntronicSNV - 20/27
14-75485519-G-A MLH3 c.4242+13C>T - IntronicSNV - 12/12
14-75485519-G-C MLH3 c.4242+13C>G - IntronicSNV - 12/12
16-89859059-C-G FANCA c.1007-104G>C - IntronicSNV - 11/42
16-89859059-C-T FANCA c.1007-104G>A - IntronicSNV - 11/42
19-11134321-G-A SMARCA4 c.2973+14G>A - IntronicSNV - 20/34
8-90976799-T-C NBN c.897-64A>G - IntronicSNV - 7/15
16-89813388-G-A FANCA c.3349-90C>T - IntronicSNV - 33/42
15-89850922-G-A FANCI c.3651+19G>A - IntronicSNV - 34/37
15-89857966-A-G FANCI c.3816+28A>G - IntronicSNV - 36/37
8-48773432-C-T PRKDC c.6055+28G>A - intron_variant - 46/86
10-43602066-G-A RET c.1063+47G>A - IntronicSNV - 5/19
3-142280321-T-G ATR c.1171-58A>C - IntronicSNV - 4/46
15-91347384-C-G BLM c.3559-13C>G - IntronicSNV - 18/21
19-11145825-C-A SMARCA4 c.4170+17C>A - IntronicSNV - 29/34
19-11145825-C-T SMARCA4 c.4170+17C>T - IntronicSNV - 29/34
2-215632164-A-G BARD1 c.1568+42T>C - IntronicSNV - 6/10
22-24175942-A-G SMARCB1 c.1118+52A>G - IntronicSNV - 8/8
16-347257-G-C AXIN1 c.1785-31C>G - IntronicSNV - 6/10
16-347257-G-T AXIN1 c.1785-31C>A - IntronicSNV - 6/10
11-108155240-G-A ATM c.3993+40G>A - IntronicSNV - 26/62
11-108155240-G-T ATM c.3993+40G>T - IntronicSNV - 26/62
14-75485504-C-G MLH3 c.4242+28G>C - IntronicSNV - 12/12
14-75485504-C-T MLH3 c.4242+28G>A - IntronicSNV - 12/12
3-142203933-T-C ATR c.6221+49A>G - IntronicSNV - 36/46
1-11293642-A-G MTOR c.2332-98T>C - IntronicSNV - 14/57
1-2489286-C-G TNFRSF14 c.178+13C>G - IntronicSNV - 2/7
19-11143955-T-C SMARCA4 c.3547-11T>C - IntronicSNV - 25/34
3-142183893-A-G ATR c.7041+46T>C - IntronicSNV - 41/46
3-142183893-A-T ATR c.7041+46T>A - IntronicSNV - 41/46
4-1800914-C-T FGFR3 c.110-67C>T - IntronicSNV - 2/17
8-90958547-G-A NBN c.1915-24C>T - IntronicSNV - 12/15
3-10142841-A-G FANCD2 c.4282-31A>G - IntronicSNV - 43/43
19-4117399-C-T MAP2K2 c.303+18G>A - IntronicSNV - 2/10
11-32450234-C-CA WT1 c.647-70dupT - IntronicInsertion - 1/9
11-32450235-A-AT WT1 c.647-71_647-70insA - IntronicInsertion - 1/9
15-40502415-G-C BUB1B c.2385+4G>C - IntronicSNV - 18/22
8-145737211-G-A RECQL4 c.3394-39C>T - intron_variant - 20/21
8-145737211-G-T RECQL4 c.3394-39C>A - intron_variant - 20/21
17-12016539-A-G MAP2K4 c.686-11A>G - IntronicSNV - 6/10
22-24135938-A-G SMARCB1 c.362+63A>G - IntronicSNV - 3/8
16-2124421-C-T TSC2 c.2545+31C>T - IntronicSNV - 22/41
3-10084396-A-G FANCD2 c.888+49A>G - IntronicSNV - 11/43
3-10084396-A-T FANCD2 c.888+49A>T - IntronicSNV - 11/43
12-121426888-C-G HNF1A c.526+53C>G - IntronicSNV - 2/9
3-142234404-T-C ATR c.4383-47A>G - IntronicSNV - 24/46
2-212488632-T-C ERBB4 c.2202+15A>G - IntronicSNV - 18/27
9-139402380-A-C NOTCH1 c.3510+27T>G - IntronicSNV - 21/33
9-139402380-A-G NOTCH1 c.3510+27T>C - IntronicSNV - 21/33
1-11291168-A-G MTOR c.2650-57T>C - IntronicSNV - 17/57
19-1218384-C-T STK11 c.291-32C>T - IntronicSNV - 1/9
10-123279710-A-G FGFR2 c.749-27T>C - IntronicSNV - 6/17
12-121434597-C-G HNF1A c.1309+52C>G - IntronicSNV - 6/9
12-121434597-C-T HNF1A c.1309+52C>T - IntronicSNV - 6/9
11-108115778-T-G ATM c.901+25T>G - IntronicSNV - 7/62
16-2138637-G-A TSC2 c.*26G>A - 3-UTRSNV 42/42 -
16-2138637-G-C TSC2 c.*26G>C - 3-UTRSNV 42/42 -
3-14207101-G-A XPC c.622-16C>T - IntronicSNV - 5/15
3-14207101-G-C XPC c.622-16C>G - IntronicSNV - 5/15
17-29685479-G-A NF1 c.7971-19G>A - IntronicSNV - 54/57
17-29685479-G-T NF1 c.7971-19G>T - IntronicSNV - 54/57
5-112136947-A-T APC c.730-29A>T - IntronicSNV - 7/15
1-156836838-T-C NTRK1 c.428+68T>C - IntronicSNV - 4/16
3-142257306-T-C ATR c.3725+18A>G - IntronicSNV - 19/46
2-29443726-C-G ALK c.3516-25G>C - IntronicSNV - 22/28
1-120459358-T-C NOTCH2 c.6028-41A>G - IntronicSNV - 33/33
11-108170373-T-C ATM c.5006-68T>C - IntronicSNV - 33/62
11-108170373-T-G ATM c.5006-68T>G - IntronicSNV - 33/62
3-178948196-A-G PIK3CA c.2936+32A>G - IntronicSNV - 20/20
9-139402658-C-T NOTCH1 c.3325+26G>A - IntronicSNV - 20/33
8-145738213-145738214---A RECQL4 c.2755+16dup - intron_variant - 16/21
8-48824965-C-G PRKDC c.2934+5G>C - IntronicSNV - 25/86
8-48824965-C-T PRKDC c.2934+5G>A - IntronicSNV - 25/86
9-97912175-G-A FANCC c.686+30C>T - IntronicSNV - 7/14
19-45855061-C-A ERCC2 c.2191-82G>T - IntronicSNV - 22/22
19-45855061-C-G ERCC2 c.2191-82G>C - IntronicSNV - 22/22
19-45855061-C-T ERCC2 c.2191-82G>A - IntronicSNV - 22/22
13-49047417-A-G RB1 c.2490-79A>G - IntronicSNV - 23/26
3-178928435-A-G PIK3CA c.1539+82A>G - IntronicSNV - 9/20
14-68352560-G-A RAD51B c.453-26G>A - IntronicSNV - 5/10
9-97863947-C-G FANCC c.*42G>C - 3-UTRSNV 15/15 -
9-97863947-C-T FANCC c.*42G>A - 3-UTRSNV 15/15 -
X-76855073-C-A ATRX c.5787-24G>T - IntronicSNV - 24/34
X-76855073-C-G ATRX c.5787-24G>C - IntronicSNV - 24/34
X-76855073-C-T ATRX c.5787-24G>A - IntronicSNV - 24/34
19-4110467-G-A MAP2K2 c.450+40C>T - IntronicSNV - 3/10
17-33444011-G-A RAD51D c.263+1509C>T - IntronicSNV - 3/9
16-339385-C-T AXIN1 c.2462+55G>A - IntronicSNV - 10/10
17-33445470-A-C RAD51D c.263+50T>G - IntronicSNV - 3/9
3-37070221-C-T MLH1 c.1410-54C>T - IntronicSNV - 12/18
2-47702460-T-C MSH2 c.2005+51T>C - IntronicSNV - 12/15
2-47702460-T-G MSH2 c.2005+51T>G - IntronicSNV - 12/15
20-36014631-C-T SRC c.350+54C>T - IntronicSNV - 5/13
14-68878138-C-T RAD51B c.854-3C>T - IntronicSNV - 8/10
19-4090712-A-G MAP2K2 c.1093-6T>C - IntronicSNV - 10/10
16-341385-G-A AXIN1 c.2187-88C>T - IntronicSNV - 8/10
16-341385-G-T AXIN1 c.2187-88C>A - IntronicSNV - 8/10
14-68758518-T-C RAD51B c.757-83T>C - IntronicSNV - 7/10
8-48715854-G-A PRKDC c.9919+13C>T - intron_variant - 71/86
19-4101170-C-T MAP2K2 c.581-29G>A - IntronicSNV - 5/10
14-75497231-G-A MLH3 c.3987+15C>T - IntronicSNV - 9/12
2-212652908-A-T ERBB4 c.422-24T>A - IntronicSNV - 3/27
17-37866524-T-A ERBB2 c.760-69T>A - IntronicSNV - 6/26
1-11288661-C-G MTOR c.3030+64G>C - IntronicSNV - 19/57
X-76856074-A-G ATRX c.5567-41T>C - IntronicSNV - 22/34
14-68301764-G-T RAD51B c.199-33G>T - IntronicSNV - 3/10
4-55161490-G-A PDGFRA c.*51G>A - 3-UTRSNV 23/23 -
12-56489394-A-G ERBB3 c.1914-55A>G - IntronicSNV - 16/27
3-142281994-C-G ATR c.293-43G>C - IntronicSNV - 3/46
3-142281994-C-T ATR c.293-43G>A - IntronicSNV - 3/46
8-30933878-A-G WRN c.839+75A>G - IntronicSNV - 8/34
19-4101305-G-A MAP2K2 c.529-27C>T - IntronicSNV - 4/10
19-4101305-G-T MAP2K2 c.529-27C>A - IntronicSNV - 4/10
14-75508248-T-C MLH3 c.3465+70A>G - IntronicSNV - 4/12
16-2138682-C-A TSC2 c.*71C>A - 3-UTRSNV 42/42 -
16-2138682-C-T TSC2 c.*71C>T - 3-UTRSNV 42/42 -
19-11097709-C-A SMARCA4 c.859+30C>A - IntronicSNV - 5/34
19-11097709-C-T SMARCA4 c.859+30C>T - IntronicSNV - 5/34
14-75489462-C-G MLH3 c.4090+55G>C - IntronicSNV - 11/12
5-56176645-T-C MAP3K1 c.2179+16T>C - IntronicSNV - 12/19
15-89806601-T-A FANCI c.504-49T>A - IntronicSNV - 6/37
15-89806601-T-C FANCI c.504-49T>C - IntronicSNV - 6/37
5-131924356-T-C RAD50 c.1052-23T>C - IntronicSNV - 7/24
8-31004843-C-T WRN c.3460-37C>T - IntronicSNV - 29/34
19-11118558-A-C SMARCA4 c.2002-20A>C - IntronicSNV - 13/34
19-11118558-A-G SMARCA4 c.2002-20A>G - IntronicSNV - 13/34
7-140477894-T-C BRAF c.1433-19A>G - IntronicSNV - 11/17
11-108139364-T-TA ATM c.2838+28_2838+29insA - IntronicInsertion - 18/62
16-2133679-C-A TSC2 c.3884-17C>A - IntronicSNV - 32/41
16-2133679-C-G TSC2 c.3884-17C>G - IntronicSNV - 32/41
16-2133679-C-T TSC2 c.3884-17C>T - IntronicSNV - 32/41
4-1808523-G-A FGFR3 c.2169-33G>A - IntronicSNV - 16/17
4-1808523-G-T FGFR3 c.2169-33G>T - IntronicSNV - 16/17
10-123245077-T-C FGFR2 c.2058-31A>G - IntronicSNV - 15/17
3-41265551-G-C CTNNB1 c.1-9G>C - 5-UTRSNV 2/15 -
15-66679798-C-A MAP2K1 c.80+33C>A - IntronicSNV - 1/10
15-66679798-C-G MAP2K1 c.80+33C>G - IntronicSNV - 1/10
8-145736791-C-T RECQL4 c.*23G>A - 3_prime_UTR_variant 22/22 -
3-37048579-A-C MLH1 c.453+25A>C - IntronicSNV - 5/18
3-37048579-A-G MLH1 c.453+25A>G - IntronicSNV - 5/18
7-148506293-G-A EZH2 c.2111-46C>T - IntronicSNV - 18/19
1-11293577-G-A MTOR c.2332-33C>T - IntronicSNV - 14/57
2-215661911-A-C BARD1 c.159-70T>G - IntronicSNV - 1/10
17-29545977-C-A NF1 c.1528-46C>A - IntronicSNV - 13/57
17-29545977-C-T NF1 c.1528-46C>T - IntronicSNV - 13/57
3-10184613-G-T VHL c.340+742G>T - IntronicSNV - 1/2
16-2138177-C-G TSC2 c.5160+37C>G - IntronicSNV - 40/41
16-2138177-C-T TSC2 c.5160+37C>T - IntronicSNV - 40/41
3-37045863-C-A MLH1 c.307-29C>A - IntronicSNV - 3/18
3-37045863-C-G MLH1 c.307-29C>G - IntronicSNV - 3/18
11-125513857-G-A CHEK1 c.923+62G>A - IntronicSNV - 9/12
11-125513857-G-T CHEK1 c.923+62G>T - IntronicSNV - 9/12
6-35420577-C-A FANCE c.248+7C>A - IntronicSNV - 1/9
19-45872122-C-A ERCC2 c.246+66G>T - IntronicSNV - 4/22
19-45872122-C-T ERCC2 c.246+66G>A - IntronicSNV - 4/22
22-24143292-C-G SMARCB1 c.500+24C>G - IntronicSNV - 4/8
12-56489613-T-C ERBB3 c.2055+23T>C - IntronicSNV - 17/27
12-56491740-G-A ERBB3 c.2616+16G>A - IntronicSNV - 21/27
19-1223603-G-A STK11 c.1108+432G>A - IntronicSNV - 8/9
5-131945121-C-T RAD50 c.3036+33C>T - IntronicSNV - 19/24
12-121434652-A-G HNF1A c.1309+107A>G - IntronicSNV - 6/9
3-10070417-G-C FANCD2 c.64+12G>C - IntronicSNV - 2/43
2-128046489-A-G ERCC3 c.823-49T>C - IntronicSNV - 6/14
11-108158496-A-T ATM c.4109+54A>T - IntronicSNV - 27/62
11-108099888-A-G ATM c.186-17A>G - IntronicSNV - 3/62
3-10105399-C-A FANCD2 c.1828-77C>A - IntronicSNV - 20/43
3-10105399-C-T FANCD2 c.1828-77C>T - IntronicSNV - 20/43
8-48840477-A-G PRKDC c.2140-27T>C - IntronicSNV - 19/86
16-89815027-A-G FANCA c.3348+40T>C - IntronicSNV - 33/42
16-89815027-A-T FANCA c.3348+40T>A - IntronicSNV - 33/42
8-48868388-A-C PRKDC c.399+46T>G - IntronicSNV - 4/86
8-48848490-T-A PRKDC c.1279-30A>T - IntronicSNV - 12/86
3-14187715-G-A XPC c.2605-56C>T - IntronicSNV - 15/15
2-47698059-T-C MSH2 c.1662-45T>C - IntronicSNV - 10/15
15-40501993-T-A BUB1B c.2284+17T>A - IntronicSNV - 17/22
15-40501993-T-G BUB1B c.2284+17T>G - IntronicSNV - 17/22
15-40492017-C-T BUB1B c.1401+89C>T - IntronicSNV - 10/22
16-14042215-C-T ERCC4 c.*11C>T - 3-UTRSNV 11/11 -
9-139399611-C-T NOTCH1 c.4587-55G>A - IntronicSNV - 25/33
3-14193933-G-A XPC c.2034-17C>T - IntronicSNV - 10/15
2-39485612-G-A MAP4K3 c.2378-31C>T - IntronicSNV - 30/33
17-37871956-A-G ERBB2 c.1314-37A>G - IntronicSNV - 11/26
17-29528562-G-A NF1 c.1260+59G>A - IntronicSNV - 11/57
17-37881575-C-G ERBB2 c.2650-5C>G - IntronicSNV - 21/26
17-37881575-C-T ERBB2 c.2650-5C>T - IntronicSNV - 21/26
9-139397795-T-C NOTCH1 c.5019-13A>G - IntronicSNV - 26/33
2-47702451-G-T MSH2 c.2005+42G>T - IntronicSNV - 12/15
16-2137806-G-A TSC2 c.4990-58G>A - IntronicSNV - 38/41
7-140477771-A-G BRAF c.1517+20T>C - IntronicSNV - 12/17
3-14201195-T-C XPC c.990+46A>G - IntronicSNV - 8/15
8-48772402-A-G PRKDC c.6056-82T>C - intron_variant - 46/86
5-112162779-T-G APC c.1409-26T>G - IntronicSNV - 11/15
9-35077114-G-T FANCG c.647-16C>A - IntronicSNV - 5/13
16-14029621-G-A ERCC4 c.1811+21G>A - IntronicSNV - 8/10
7-116409676-T-A MET c.2584-23T>A - IntronicSNV - 11/20
7-116409676-T-C MET c.2584-23T>C - IntronicSNV - 11/20
15-91308512-T-C BLM c.2075-14T>C - IntronicSNV - 8/21
15-91346738-A-G BLM c.3359-13A>G - IntronicSNV - 17/21
14-68301776-C-T RAD51B c.199-21C>T - IntronicSNV - 3/10
16-89877235-A-T FANCA c.427-25T>A - IntronicSNV - 4/42
5-80063744-A-G MSH3 c.1897-8A>G - IntronicSNV - 13/23
10-123256248-G-A FGFR2 c.1673-12C>T - IntronicSNV - 12/17
15-89833560-G-A FANCI c.1890+48G>A - IntronicSNV - 19/37
7-140477939-C-G BRAF c.1433-64G>C - IntronicSNV - 11/17
7-140477939-C-T BRAF c.1433-64G>A - IntronicSNV - 11/17
19-40761026-C-A AKT2 c.287+39G>T - IntronicSNV - 4/13
19-40761026-C-T AKT2 c.287+39G>A - IntronicSNV - 4/13
17-56772612-T-TGTACTATCG RAD51C c.404+63_404+71dup - IntronicInsertion - 2/8
3-142257273-A-C ATR c.3725+51T>G - IntronicSNV - 19/46
8-48694884-G-A PRKDC c.11393+55C>T - intron_variant - 80/86
5-80021399-T-C MSH3 c.1453+15T>C - IntronicSNV - 9/23
1-11188494-C-T MTOR c.5910+17G>A - IntronicSNV - 42/57
5-80071494-T-G MSH3 c.2254-19T>G - IntronicSNV - 15/23
15-89833549-C-G FANCI c.1890+37C>G - IntronicSNV - 19/37
15-89833549-C-T FANCI c.1890+37C>T - IntronicSNV - 19/37
16-2138432-C-T TSC2 c.5260-15C>T - IntronicSNV - 41/41
11-108178737-C-G ATM c.5762+26C>G - IntronicSNV - 38/62
11-108178737-C-T ATM c.5762+26C>T - IntronicSNV - 38/62
2-29451957-C-A ALK c.2633-25G>T - IntronicSNV - 15/28
2-29451957-C-T ALK c.2633-25G>A - IntronicSNV - 15/28
11-533279-C-G HRAS c.450+174G>C - IntronicSNV - 4/5
11-533279-C-T HRAS c.450+174G>A - IntronicSNV - 4/5
19-11136217-C-T SMARCA4 c.3168+33C>T - IntronicSNV - 22/34
3-10131954-G-A FANCD2 c.3684-22G>A - IntronicSNV - 36/43
3-10131954-G-C FANCD2 c.3684-22G>C - IntronicSNV - 36/43
13-48942652-T-C RB1 c.1050-11T>C - IntronicSNV - 10/26
13-32932072-C-T BRCA2 c.7805+6C>T - IntronicSNV - 16/26
15-40477868-G-A BUB1B c.1058+25G>A - IntronicSNV - 8/22
16-2103486-G-A TSC2 c.336+33G>A - IntronicSNV - 4/41
16-2103486-G-T TSC2 c.336+33G>T - IntronicSNV - 4/41
3-37053236-A-C MLH1 c.546-75A>C - IntronicSNV - 6/18
1-120459401-C-A NOTCH2 c.6028-84G>T - IntronicSNV - 33/33
2-212568923-C-T ERBB4 c.1199-4G>A - IntronicSNV - 10/27
7-140434620-A-G BRAF c.2128-50T>C - IntronicSNV - 17/17
19-45867676-C-G ERCC2 c.718+6G>C - IntronicSNV - 8/22
19-45867676-C-T ERCC2 c.718+6G>A - IntronicSNV - 8/22
3-142234398-C-T ATR c.4383-41G>A - IntronicSNV - 24/46
1-156836817-C-T NTRK1 c.428+47C>T - IntronicSNV - 4/16
3-142178245-C-T ATR c.7193-20G>A - IntronicSNV - 42/46
11-32449624-C-A WT1 c.785-20G>T - intron_variant - 2/9
14-104165596-C-T XRCC3 c.775-80G>A - IntronicSNV - 8/9
11-108155248-A-G ATM c.3993+48A>G - IntronicSNV - 26/62
10-123274581-G-C FGFR2 c.1287+50C>G - IntronicSNV - 9/17
2-215632120-G-C BARD1 c.1568+86C>G - IntronicSNV - 6/10
2-215632120-G-T BARD1 c.1568+86C>A - IntronicSNV - 6/10
3-142272908-T-C ATR c.2342-51A>G - IntronicSNV - 10/46
9-135786326-C-T TSC1 c.1141+63G>A - IntronicSNV - 11/22
X-14862921-T-C FANCB c.1927+57A>G - IntronicSNV - 8/9
7-116395637-C-A MET c.1862+68C>A - IntronicSNV - 6/20
10-123263490-T-C FGFR2 c.1288-35A>G - IntronicSNV - 9/17
1-11291512-G-A MTOR c.2515-21C>T - IntronicSNV - 16/57
9-135772184-C-G TSC1 c.2976-43G>C - IntronicSNV - 22/22
9-135772184-C-T TSC1 c.2976-43G>A - IntronicSNV - 22/22
8-145736958-C-T RECQL4 c.3503-20G>A - intron_variant - 21/21
5-56161347-T-C MAP3K1 c.1152+64T>C - IntronicSNV - 5/19
2-128030569-G-A ERCC3 c.1731-32C>T - IntronicSNV - 10/14
20-36031016-C-T SRC c.1270+25C>T - IntronicSNV - 12/13
15-89851060-G-A FANCI c.3651+157G>A - IntronicSNV - 34/37
5-80040509-G-A MSH3 c.1763+75G>A - IntronicSNV - 12/23
7-55248930-C-T EGFR c.2284-56C>T - IntronicSNV - 19/27
16-89805421-T-TA FANCA c.4168-40_4168-40dup - IntronicInsertion - 41/42
8-48826382-A-G PRKDC c.2781+79T>C - IntronicSNV - 24/86
15-89807891-T-C FANCI c.755+53T>C - IntronicSNV - 9/37
16-89858037-G-A FANCA c.1226-93C>T - IntronicSNV - 13/42
13-48951025-A-G RB1 c.1216-29A>G - IntronicSNV - 12/26
2-48028416-A-T MSH6 c.3172+122A>T - IntronicSNV - 4/9
2-39560648-C-G MAP4K3 c.457+25G>C - IntronicSNV - 7/33
2-39560648-C-T MAP4K3 c.457+25G>A - IntronicSNV - 7/33
2-29917660-G-A ALK c.952+56C>T - IntronicSNV - 3/28
2-29917660-G-C ALK c.952+56C>G - IntronicSNV - 3/28
4-55133715-A-G PDGFRA c.932-4A>G - IntronicSNV - 6/22
19-4102348-G-A MAP2K2 c.528+26C>T - IntronicSNV - 4/10
2-47600766-T-C EPCAM c.184+57T>C - IntronicSNV - 2/8
12-46123605-T-A ARID2 c.1-15T>A - IntergenicSNV 1/21 -
20-36031544-C-T SRC c.1403-30C>T - IntronicSNV - 13/13
1-120464481-T-C NOTCH2 c.5214-49A>G - IntronicSNV - 28/33
1-45798901-C-T MUTYH c.304+56G>A - IntronicSNV - 4/15
19-11113864-G-C SMARCA4 c.1943+29G>C - IntronicSNV - 12/34
19-11113864-G-T SMARCA4 c.1943+29G>T - Intro