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
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 -
1-118166492-C-T TENT5C c.1002C>T p.S334= Synonymous 2/2 -
8-31014939-C-A WRN c.3875C>A p.S1292Y Missense 33/35 -
10-50713944-G-A ERCC6 c.1512C>T p.F504= Synonymous 6/21 -
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 -
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 -
4-55127443-C-T PDGFRA c.231C>T p.N77= Synonymous 3/23 -
9-139396861-G-A NOTCH1 c.5247C>T p.F1749= Synonymous 28/34 -
17-37619038-G-A CDK12 c.714G>A p.S238= Synonymous 1/14 -
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 -
1-27099883-C-T ARID1A c.3762C>T p.G1254= Synonymous 15/20 -
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 -
8-133919075-A-G TG c.3777A>G p.P1259= Synonymous 17/48 -
19-4110552-C-G MAP2K2 c.405G>C p.G135= Synonymous 3/11 -
17-37682292-G-A CDK12 c.3483G>A p.T1161= Synonymous 13/14 -
8-48691066-C-T PRKDC c.11806G>A p.G3935D Missense 84/87 -
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 -
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 -
12-121432117-G-A HNF1A c.864G>A p.G288= Synonymous 4/10 -
8-145740622-C-T RECQL4 c.1395G>A p.T465= Synonymous 8/22 -
12-121432192-C-T HNF1A c.939C>T p.S313= 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 -
12-121432141-A-C HNF1A c.888A>C p.G296= Synonymous 4/10 -
4-55139765-A-C PDGFRA c.1426A>C p.I476L Missense 10/23 -
12-121432126-A-G HNF1A c.873A>G p.P291= Synonymous 4/10 -
4-1806232-C-T FGFR3 c.1251C>T p.F417= Synonymous 9/18 -
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 -
7-148526908-A-G EZH2 c.396T>C p.P132= Synonymous 5/20 -
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 -
4-1806211-C-G FGFR3 c.1230C>G p.T410= Synonymous 9/18 -
14-45620699-C-T FANCM c.1018C>T p.Q340* Nonsense 5/23 -
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 -
11-108128299-A-G ATM c.2342A>G p.Q781R Missense 15/63 -
5-56160695-G-A MAP3K1 c.969G>A p.G323= Synonymous 4/20 -
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 -
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 -
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 -
2-212288968-C-G ERBB4 c.2778G>C p.T926= Synonymous 23/28 -
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 -
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 -
2-29416418-G-A ALK c.4535C>T p.T1512I Missense 29/29 -
13-32900634-A-C BRCA2 c.517-2A>C - IntronicSNV - 6/26
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
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 -
13-32900634-A-G BRCA2 c.517-2A>G - IntronicSNV - 6/26
3-14220090-C-A XPC c.1-22G>T - 5-UTRSNV 1/16 -
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-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 -
17-29687543-G-A NF1 c.8199G>A p.K2733= Synonymous 57/58 -
1-27107000-C-T ARID1A c.6611C>T p.A2204V Missense 20/20 -
15-91347568-G-A BLM c.3730G>A p.V1244I Missense 19/22 -
2-29498283-C-T ALK c.1897G>A p.D633N Missense 10/29 -
2-39487824-C-T MAP4K3 c.2231G>A p.R744K Missense 29/34 -
3-142274810-T-C ATR c.2250A>G p.Q750= Synonymous 10/47 -
11-47238498-G-A DDB2 c.354G>A p.A118= Synonymous 3/10 -
6-35423914-G-A FANCE c.639G>A p.G213= Synonymous 2/10 -
2-48030714-C-T MSH6 c.3328C>T p.P1110S Missense 5/10 -
9-35075746-G-A FANCG c.1149C>T p.S383= Synonymous 10/14 -
7-116339504-C-T MET c.366C>T p.V122= Synonymous 2/21 -
10-89720794-T-G PTEN c.945T>G p.Y315* Nonsense 8/9 -
2-212426691-G-A ERBB4 c.2424C>T p.V808= Synonymous 20/28 -
12-46233253-C-G ARID2 c.1472C>G p.T491S Missense 11/21 -
2-212483991-C-T ERBB4 c.2212G>A p.V738I Missense 19/28 -
1-11190674-G-A MTOR c.5525C>T p.A1842V Missense 39/58 -
9-135781444-A-G TSC1 c.1521T>C p.F507= Synonymous 15/23 -
19-45867724-C-T ERCC2 c.676G>A p.A226T Missense 8/23 -
8-133935602-G-A TG c.4548G>A p.R1516= Synonymous 22/48 -
9-135781428-G-A TSC1 c.1537C>T p.P513S Missense 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 -
5-112128202-A-G APC c.705A>G p.L235= Synonymous 7/16 -
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 -
5-112174762-G-A APC c.3471G>A p.E1157= Synonymous 16/16 -
14-75515125-T-C MLH3 c.1234A>G p.K412E Missense 2/13 -
8-31000198-A-G WRN c.3290A>G p.E1097G Missense 27/35 -
17-37883669-C-T ERBB2 c.3281C>T p.A1094V Missense 26/27 -
19-11095045-A-G SMARCA4 c.218A>G p.H73R Missense 2/35 -
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 -
16-68857457-G-A CDH1 c.2092G>A p.A698T Missense 13/16 -
19-4117609-C-G MAP2K2 c.111G>C p.L37= Synonymous 2/11 -
1-27057815-C-A ARID1A c.1523C>A p.P508Q Missense 3/20 -
9-139400040-G-A NOTCH1 c.4308C>T p.A1436= Synonymous 25/34 -
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 -
10-123247550-G-A FGFR2 c.1941C>T p.L647= Synonymous 14/18 -
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 -
4-55143693-G-A PDGFRA c.1891+34G>A - IntronicSNV - 13/22
12-121416728-G-A HNF1A c.157G>A p.G53S Missense 1/10 -
12-46211568-C-T ARID2 c.534C>T p.N178= Synonymous 5/21 -
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 -
7-55241607-C-G EGFR c.2062-7C>G - IntronicSNV - 17/27
8-145740707-C-T RECQL4 c.1390+3G>A - IntronicSNV - 7/21
7-55273218-G-A EGFR c.3541G>A p.A1181T Missense 28/28 -
14-75516021-T-C MLH3 c.338A>G p.K113R Missense 2/13 -
2-212251537-G-A ERBB4 c.3481+41C>T - IntronicSNV - 27/27
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-T ERBB4 c.3481+41C>A - IntronicSNV - 27/27
5-131972916-A-G RAD50 c.3475+24A>G - IntronicSNV - 22/24
22-30069383-G-C NF2 c.1248G>C p.A416= Synonymous 12/16 -
22-30069392-G-A NF2 c.1257G>A p.T419= Synonymous 12/16 -
5-131931341-C-A RAD50 c.2046C>A p.P682= Synonymous 13/25 -
9-139438537-G-T NOTCH1 c.79C>A p.P27T Missense 2/34 -
1-27087448-T-C ARID1A c.2022T>C p.S674= Synonymous 5/20 -
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 -
1-27087466-T-C ARID1A c.2040T>C p.P680= Synonymous 5/20 -
1-27087469-C-T ARID1A c.2043C>T p.F681= Synonymous 5/20 -
1-27100182-G-A ARID1A c.3978G>A p.P1326= Synonymous 16/20 -
1-27100182-G-T ARID1A c.3978G>T p.P1326= Synonymous 16/20 -
7-116419011-T-G MET c.3522T>G p.H1174Q Missense 17/21 -
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 -
1-27106620-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 -
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 -
17-29585448-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 -
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 -
13-32944741-C-G BRCA2 c.8487+47C>G - IntronicSNV - 19/26
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
3-142281494-G-C ATR c.750C>G p.S250R Missense 4/47 -
12-46233317-G-A ARID2 c.1498+38G>A - IntronicSNV - 11/20
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
17-29679401-A-G NF1 c.7584A>G p.Q2528= Synonymous 51/58 -
7-148526807-G-A EZH2 c.484+13C>T - IntronicSNV - 5/19
3-41266689-C-T CTNNB1 c.486C>T p.D162= Synonymous 4/15 -
1-27094385-T-A ARID1A c.3093T>A p.T1031= Synonymous 11/20 -
11-94201045-A-C MRE11 c.1032T>G p.L344= Synonymous 10/20 -
12-121437162-C-T HNF1A c.1593C>T p.S531= Synonymous 8/10 -
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 -
17-37884060-G-A ERBB2 c.3531G>A p.K1177= Synonymous 27/27 -
3-142204116-G-A ATR c.6087C>T p.T2029= Synonymous 36/47 -
X-15838411-C-T ZRSR2 c.909C>T p.P303= Synonymous 10/11 -
8-31014964-C-A WRN c.3900C>A p.P1300= Synonymous 33/35 -
17-37883791-C-T ERBB2 c.3403C>T p.P1135S Missense 26/27 -
17-79478213-C-A ACTG1 c.802+1G>T - IntronicSNV - 4/5
17-37871745-C-T ERBB2 c.1269C>T p.S423= Synonymous 11/27 -
16-339499-C-T AXIN1 c.2403G>A p.R801= Synonymous 10/11 -
8-128752694-G-A MYC c.855G>A p.R285= Synonymous 3/3 -
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 -
17-47688929-A-G SPOP c.481-110T>C - IntronicSNV - 5/9
13-49047453-A-G RB1 c.2490-43A>G - IntronicSNV - 23/26
10-89624340-C-T PTEN c.79+35C>T - IntronicSNV - 1/8
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
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
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
5-131915279-A-G RAD50 c.551+85A>G - IntronicSNV - 4/24
1-11193072-G-A MTOR c.5364+65C>T - IntronicSNV - 38/57
2-47703717-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
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
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
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
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
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
8-48847705-T-G PRKDC c.1448-87A>C - IntronicSNV - 13/86
19-40741306-G-A AKT2 c.1176-49C>T - IntronicSNV - 11/13
19-40741306-G-C AKT2 c.1176-49C>G - IntronicSNV - 11/13
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
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
3-142217657-G-A ATR c.5381-41C>T - IntronicSNV - 31/46
3-142217657-G-T ATR c.5381-41C>A - IntronicSNV - 31/46
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
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
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
15-89806601-T-A FANCI c.504-49T>A - IntronicSNV - 6/37
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
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
12-56491740-G-A ERBB3 c.2616+16G>A - IntronicSNV - 21/27
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
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
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
19-1223603-G-A STK11 c.1108+432G>A - IntronicSNV - 8/9
5-131945121-C-T RAD50 c.3036+33C>T - IntronicSNV - 19/24
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
12-121434652-A-G HNF1A c.1309+107A>G - IntronicSNV - 6/9
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
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
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 - IntronicSNV - 12/34
5-56160541-T-C MAP3K1 c.835-20T>C - IntronicSNV - 3/19
9-5044540-C-T JAK2 c.468+20C>T - IntronicSNV - 5/24
16-348273-C-T AXIN1 c.1255-22G>A - IntronicSNV - 5/10
10-123260275-A-G FGFR2 c.1561+65T>C - IntronicSNV - 11/17
8-30925867-A-C WRN c.724+24A>C - IntronicSNV - 7/34
8-48843376-T-C PRKDC c.1777-29A>G - IntronicSNV - 16/86
2-39478927-A-G MAP4K3 c.2597+44T>C - IntronicSNV - 33/33
3-178937107-T-C PIK3CA c.1746+42T>C - IntronicSNV - 11/20
11-32417962-A-G WT1 c.1114-9T>C - splice_polypyrimidine_tract_variant,intron_variant - 6/9
16-89836965-C-T FANCA c.2222+7G>A - IntronicSNV - 24/42
14-75505141-C-A MLH3 c.3571-26G>T - IntronicSNV - 5/12
14-75505141-C-T MLH3 c.3571-26G>A - IntronicSNV - 5/12
16-2136455-C-T TSC2 c.4849+75C>T - IntronicSNV - 37/41
17-12043139-T-C MAP2K4 c.1041-17T>C - IntronicSNV - 9/10
7-55242549-T-C EGFR c.2283+36T>C - IntronicSNV - 19/27
1-11167517-G-A MTOR c.*25C>T - 3-UTRSNV 58/58 -
1-11167517-G-C MTOR c.*25C>G - 3-UTRSNV 58/58 -
22-29108079-C-G CHEK2 c.684-74G>C - IntronicSNV - 5/14
9-35078100-G-A FANCG c.510+38C>T - IntronicSNV - 4/13
16-2137805-C-T TSC2 c.4990-59C>T - IntronicSNV - 38/41
1-11316005-G-A MTOR c.705+44C>T - IntronicSNV - 5/57
17-37883822-G-A ERBB2 c.3412+22G>A - IntronicSNV - 26/26
17-37646758-A-G CDK12 c.1932-52A>G - IntronicSNV - 2/13
14-68353705-T-G RAD51B c.573-33T>G - IntronicSNV - 6/10
2-212522689-G-A ERBB4 c.1872-136C>T - IntronicSNV - 15/27
2-212522689-G-C ERBB4 c.1872-136C>G - IntronicSNV - 15/27
7-6031593-A-G PMS2 c.988+11T>C - IntronicSNV - 9/14
1-11167158-C-T MTOR c.*384G>A - 3-UTRSNV 58/58 -
8-48715855-C-T PRKDC c.9919+12G>A - intron_variant - 71/86
9-139410227-C-A NOTCH1 c.1670-59G>T - IntronicSNV - 10/33
2-29606777-A-C ALK c.1155-52T>G - IntronicSNV - 4/28
2-29606777-A-G ALK c.1155-52T>C - IntronicSNV - 4/28
10-43601785-A-G RET c.868-39A>G - IntronicSNV - 4/19
19-40771108-C-A AKT2 c.46+21G>T - IntronicSNV - 2/13
19-40771108-C-T AKT2 c.46+21G>A - IntronicSNV - 2/13
16-23635433-G-A PALB2 c.2749-18C>T - IntronicSNV - 7/12
2-215661773-G-A BARD1 c.215+12C>T - IntronicSNV - 2/10
X-15827449-A-T ZRSR2 c.557+8A>T - IntronicSNV - 7/10
4-1807266-G-A FGFR3 c.1535-20G>A - IntronicSNV - 11/17
8-145742185-G-A RECQL4 c.355-37C>T - IntronicSNV - 4/21
4-1807278-G-A FGFR3 c.1535-8G>A - IntronicSNV - 11/17
4-1807278-G-C FGFR3 c.1535-8G>C - IntronicSNV - 11/17
4-1807278-G-T FGFR3 c.1535-8G>T - IntronicSNV - 11/17
2-215661883-T-G BARD1 c.159-42A>C - IntronicSNV - 1/10
X-15834042-G-T ZRSR2 c.771+29G>T - IntronicSNV - 8/10
8-48801232-T-C PRKDC c.4278-21A>G - intron_variant - 34/86
16-89849522-T-C FANCA c.1471-12A>G - IntronicSNV - 15/42
16-89849522-T-G FANCA c.1471-12A>C - IntronicSNV - 15/42
12-46231085-G-A ARID2 c.1024-19G>A - IntronicSNV - 8/20
16-89813206-A-G FANCA c.3408+33T>C - IntronicSNV - 34/42
5-67522920-T-C PIK3R1 c.334+83T>C - IntronicSNV - 2/15
15-89856217-A-G FANCI c.3720+14A>G - IntronicSNV - 35/37
15-89856217-A-T FANCI c.3720+14A>T - IntronicSNV - 35/37
16-68842784-G-A CDH1 c.687+33G>A - IntronicSNV - 5/15
10-50668528-A-C ERCC6 c.3984-31T>G - IntronicSNV - 19/20
3-38182230-C-G MYD88 c.645-18C>G - intron_variant - 3/4
3-38182230-C-T MYD88 c.645-18C>T - intron_variant - 3/4
3-37056045-A-C MLH1 c.790+10A>C - IntronicSNV - 9/18
13-103525564-G-C ERCC5 c.2880-45G>C - IntronicSNV - 13/14
13-103525564-G-T ERCC5 c.2880-45G>T - IntronicSNV - 13/14
5-67575600-A-G PIK3R1 c.634+39A>G - IntronicSNV - 5/15
2-215633906-A-G BARD1 c.1395+50T>C - IntronicSNV - 5/10
2-39517490-G-C MAP4K3 c.1272-15C>G - IntronicSNV - 18/33
2-47702450-T-TG MSH2 c.2005+42_2005+42dup - IntronicInsertion - 12/15
19-11135189-G-A SMARCA4 c.3081+75G>A - IntronicSNV - 21/34
19-11135189-G-T SMARCA4 c.3081+75G>T - IntronicSNV - 21/34
1-156838525-G-C NTRK1 c.717+86G>C - IntronicSNV - 6/16
3-142215122-A-T ATR c.5898+81T>A - IntronicSNV - 34/46
1-11272991-G-A MTOR c.3286-26C>T - IntronicSNV - 21/57
8-30999188-T-C WRN c.3139-9T>C - IntronicSNV - 25/34
3-178927353-G-A PIK3CA c.1146-30G>A - IntronicSNV - 6/20
1-11174961-G-A MTOR c.7090-17C>T - IntronicSNV - 51/57
5-131944276-A-G RAD50 c.2719-31A>G - IntronicSNV - 16/24
6-138202130-G-A TNFAIP3 c.2089-42G>A - IntronicSNV - 8/8
13-49050826-G-A RB1 c.2521-11G>A - IntronicSNV - 24/26
17-29508691-A-C NF1 c.655-37A>C - IntronicSNV - 6/57
1-11169789-A-G MTOR c.7367-3T>C - IntronicSNV - 54/57
10-123278248-A-G FGFR2 c.939+1245T>C - IntronicSNV - 7/17
10-123353213-A-T FGFR2 c.109+10T>A - IntronicSNV - 2/17
10-123353206-G-C FGFR2 c.109+17C>G - IntronicSNV - 2/17
19-11101798-C-G SMARCA4 c.1246-28C>G - IntronicSNV - 7/34
19-11101798-C-T SMARCA4 c.1246-28C>T - IntronicSNV - 7/34
3-10078033-G-A FANCD2 c.491+10G>A - IntronicSNV - 7/43
17-37879564-G-A ERBB2 c.1947-8G>A - IntronicSNV - 16/26
17-37879564-G-T ERBB2 c.1947-8G>T - IntronicSNV - 16/26
2-29446191-G-A ALK c.3359+17C>T - IntronicSNV - 20/28
3-14206917-G-A XPC c.779+11C>T - IntronicSNV - 6/15
9-139405551-G-A NOTCH1 c.2587+53C>T - IntronicSNV - 16/33
10-50678980-G-A ERCC6 c.3070+41C>T - IntronicSNV - 17/20
2-128046899-G-A ERCC3 c.822+14C>T - IntronicSNV - 6/14
20-36024553-G-C SRC c.554-12G>C - IntronicSNV - 7/13
16-2125795-C-G TSC2 c.2546-5C>G - IntronicSNV - 22/41
16-2125795-C-T TSC2 c.2546-5C>T - IntronicSNV - 22/41
1-65311159-T-C JAK1 c.2115+37A>G - IntronicSNV - 15/24
7-148508821-T-A EZH2 c.1852-9A>T - IntronicSNV - 15/19
7-148508821-T-C EZH2 c.1852-9A>G - IntronicSNV - 15/19
7-148508821-T-G EZH2 c.1852-9A>C - IntronicSNV - 15/19
19-11170659-T-A SMARCA4 c.4769-62T>A - IntronicSNV - 33/34
19-1207286-C-G STK11 c.290+84C>G - IntronicSNV - 1/9
19-1207286-C-T STK11 c.290+84C>T - IntronicSNV - 1/9
11-108127101-A-C ATM c.2250+34A>C - IntronicSNV - 14/62
11-108127101-A-G ATM c.2250+34A>G - IntronicSNV - 14/62
17-29549019-C-T NF1 c.1721+72C>T - IntronicSNV - 15/57
7-55272897-A-G EGFR c.3272-52A>G - IntronicSNV - 27/27
11-108127089-A-C ATM c.2250+22A>C - IntronicSNV - 14/62
17-63532746-T-C AXIN2 c.1908-75A>G - IntronicSNV - 7/10
12-46298706-T-A ARID2 c.5364-11T>A - IntronicSNV - 20/20
8-30954377-A-G WRN c.1981+11A>G - IntronicSNV - 17/34
7-148514497-T-C EZH2 c.1241-14A>G - IntronicSNV - 10/19
4-55140834-G-A PDGFRA c.1653+42G>A - IntronicSNV - 11/22
16-89869586-G-A FANCA c.792+81C>T - IntronicSNV - 8/42
16-89869586-G-C FANCA c.792+81C>G - IntronicSNV - 8/42
16-89869586-G-T FANCA c.792+81C>A - IntronicSNV - 8/42
2-39519906-G-T MAP4K3 c.1271+8C>A - IntronicSNV - 18/33
19-11123595-G-T SMARCA4 c.2275-30G>T - IntronicSNV - 15/34
9-139401741-G-A NOTCH1 c.3643+16C>T - IntronicSNV - 22/33
16-2124464-C-A TSC2 c.2545+74C>A - IntronicSNV - 22/41
16-2124464-C-T TSC2 c.2545+74C>T - IntronicSNV - 22/41
8-90994923-A-T NBN c.171+27T>A - IntronicSNV - 2/15
13-48916860-C-G RB1 c.380+10C>G - IntronicSNV - 3/26
4-55133960-G-A PDGFRA c.1121+52G>A - IntronicSNV - 7/22
16-23640642-T-C PALB2 c.2515-46A>G - IntronicSNV - 5/12
10-123274874-C-T FGFR2 c.1085-41G>A - IntronicSNV - 8/17
8-145736803-A-G RECQL4 c.*11T>C - 3_prime_UTR_variant 22/22 -
19-11151902-C-G SMARCA4 c.4171-81C>G - IntronicSNV - 29/34
12-56492279-C-T ERBB3 c.2617-5C>T - IntronicSNV - 21/27
3-142232334-T-C ATR c.4641+9A>G - IntronicSNV - 26/46
16-23637756-G-A PALB2 c.2587-38C>T - IntronicSNV - 6/12
16-23637756-G-C PALB2 c.2587-38C>G - IntronicSNV - 6/12
16-23637756-G-T PALB2 c.2587-38C>A - IntronicSNV - 6/12
1-27092696-C-G ARID1A c.2733-16C>G - IntronicSNV - 8/19
16-89857957-C-G FANCA c.1226-13G>C - IntronicSNV - 13/42
19-11136060-G-A SMARCA4 c.3082-38G>A - IntronicSNV - 21/34
16-354473-T-A AXIN1 c.1117-32A>T - IntronicSNV - 4/10
9-5077615-T-C JAK2 c.1992+35T>C - IntronicSNV - 15/24
19-45859109-C-T ERCC2 c.1480-123G>A - IntronicSNV - 15/22
17-29545939-G-A NF1 c.1528-84G>A - IntronicSNV - 13/57
17-29545939-G-T NF1 c.1528-84G>T - IntronicSNV - 13/57
16-2130384-G-A TSC2 c.3610+6G>A - IntronicSNV - 30/41
16-2126489-C-A TSC2 c.2743-3C>A - IntronicSNV - 24/41
3-10184449-C-T VHL c.340+578C>T - IntronicSNV - 1/2
19-11151954-G-C SMARCA4 c.4171-29G>C - IntronicSNV - 29/34
10-89690764-A-G PTEN c.210-39A>G - IntronicSNV - 3/8
2-39499366-T-C MAP4K3 c.1973+58A>G - IntronicSNV - 26/33
16-14026187-A-G ERCC4 c.1102+45A>G - IntronicSNV - 6/10
2-212293119-G-A ERBB4 c.2719+14C>T - IntronicSNV - 22/27
2-212293119-G-C ERBB4 c.2719+14C>G - IntronicSNV - 22/27
16-14041416-A-G ERCC4 c.2018-55A>G - IntronicSNV - 10/10
16-14041416-A-T ERCC4 c.2018-55A>T - IntronicSNV - 10/10
20-36024536-C-T SRC c.554-29C>T - IntronicSNV - 7/13
3-10134015-C-T FANCD2 c.3849+79C>T - IntronicSNV - 38/43
19-4102552-C-T MAP2K2 c.451-101G>A - IntronicSNV - 3/10
17-33430666-C-G RAD51D c.577-103G>C - IntronicSNV - 6/9
2-212522654-G-A ERBB4 c.1872-101C>T - IntronicSNV - 15/27
1-11194535-C-T MTOR c.5131-12G>A - IntronicSNV - 36/57
1-11199331-G-C MTOR c.5130+30C>G - IntronicSNV - 36/57
14-45633838-A-G FANCM c.1788+70A>G - IntronicSNV - 10/22
2-29606575-G-A ALK c.1282+23C>T - IntronicSNV - 5/28
19-4117647-T-C MAP2K2 c.93-20A>G - IntronicSNV - 1/10
19-4117647-T-G MAP2K2 c.93-20A>C - IntronicSNV - 1/10
16-89858321-G-A FANCA c.1225+14C>T - IntronicSNV - 13/42
16-89858321-G-T FANCA c.1225+14C>A - IntronicSNV - 13/42
6-35434010-C-T FANCE c.1510-11C>T - IntronicSNV - 9/9
13-32890704-G-A BRCA2 c.67+40G>A - IntronicSNV - 2/26
19-4117388-C-T MAP2K2 c.303+29G>A - IntronicSNV - 2/10
3-14187352-C-G XPC c.*89G>C - 3-UTRSNV 16/16 -
3-14187352-C-T XPC c.*89G>A - 3-UTRSNV 16/16 -
9-139401705-C-T NOTCH1 c.3643+52G>A - IntronicSNV - 22/33
22-30069499-C-T NF2 c.1340+24C>T - IntronicSNV - 12/15
5-67576867-T-C PIK3R1 c.916+33T>C - IntronicSNV - 7/15
X-14861675-A-C FANCB c.*14T>G - 3-UTRSNV 10/10 -
X-14861675-A-G FANCB c.*14T>C - 3-UTRSNV 10/10 -
X-14868868-G-A FANCB c.1327-72C>T - IntronicSNV - 6/9
X-14868868-G-T FANCB c.1327-72C>A - IntronicSNV - 6/9
7-140476924-C-A BRAF c.1518-36G>T - IntronicSNV - 12/17
7-140476924-C-T BRAF c.1518-36G>A - IntronicSNV - 12/17
7-116419023-G-T MET c.3522+12G>T - IntronicSNV - 17/20
1-120529755-C-A NOTCH2 c.752-50G>T - IntronicSNV - 4/33
1-120529755-C-T NOTCH2 c.752-50G>A - IntronicSNV - 4/33
15-91292519-T-A BLM c.99-78T>A - IntronicSNV - 2/21
15-91292519-T-C BLM c.99-78T>C - IntronicSNV - 2/21
15-89825119-C-T FANCI c.1583+53C>T - IntronicSNV - 16/37
3-142231344-T-C ATR c.4642-32A>G - IntronicSNV - 26/46
15-89828482-A-C FANCI c.1821+33A>C - IntronicSNV - 18/37
15-89856263-G-A FANCI c.3720+60G>A - IntronicSNV - 35/37
15-89817386-A-C FANCI c.976-13A>C - IntronicSNV - 11/37
15-89817386-A-T FANCI c.976-13A>T - IntronicSNV - 11/37
8-48731923-C-T PRKDC c.9442+40G>A - intron_variant - 68/86
1-2489981-C-T TNFRSF14 c.304+74C>T - IntronicSNV - 3/7
15-89850836-T-C FANCI c.3592-8T>C - IntronicSNV - 33/37
15-89826497-G-A FANCI c.1698+16G>A - IntronicSNV - 17/37
17-37657481-A-G CDK12 c.2420-22A>G - IntronicSNV - 5/13
17-37657481-A-T CDK12 c.2420-22A>T - IntronicSNV - 5/13
17-12044450-C-T MAP2K4 c.1087-14C>T - IntronicSNV - 10/10
19-45855445-G-A ERCC2 c.2190+22C>T - IntronicSNV - 22/22
15-89856125-A-C FANCI c.3652-10A>C - IntronicSNV - 34/37
15-89856125-A-G FANCI c.3652-10A>G - IntronicSNV - 34/37
15-89856125-A-T FANCI c.3652-10A>T - IntronicSNV - 34/37
19-40743858-G-A AKT2 c.831+18C>T - IntronicSNV - 9/13
19-40743858-G-C AKT2 c.831+18C>G - IntronicSNV - 9/13
8-145742153-G-A RECQL4 c.355-5C>T - IntronicSNV - 4/21
8-128751326-T-C MYC c.802+61T>C - IntronicSNV - 2/2
2-39517543-A-AT MAP4K3 c.1272-69_1272-69dup - IntronicInsertion - 18/33
19-4095500-C-T MAP2K2 c.985-53G>A - IntronicSNV - 8/10
1-2493295-C-T TNFRSF14 c.694+41C>T - IntronicSNV - 6/7
1-65344653-A-G JAK1 c.329+55T>C - IntronicSNV - 4/24
2-29416824-A-T ALK c.4165-36T>A - IntronicSNV - 28/28
17-29677187-C-T NF1 c.7322-14C>T - IntronicSNV - 49/57
2-29449762-T-C ALK c.3067+26A>G - IntronicSNV - 18/28
19-11123823-G-A SMARCA4 c.2438+35G>A - IntronicSNV - 16/34
17-33443893-G-A RAD51D c.263+1627C>T - IntronicSNV - 3/9
17-33443893-G-T RAD51D c.263+1627C>A - IntronicSNV - 3/9
5-56181719-C-G MAP3K1 c.3983-40C>G - IntronicSNV - 16/19
5-56181719-C-T MAP3K1 c.3983-40C>T - IntronicSNV - 16/19
17-37871951-C-G ERBB2 c.1314-42C>G - IntronicSNV - 11/26
17-37871951-C-T ERBB2 c.1314-42C>T - IntronicSNV - 11/26
8-128753248-G-A MYC c.*44G>A - 3-UTRSNV 3/3 -
16-89837081-G-A FANCA c.2152-39C>T - IntronicSNV - 23/42
16-89837081-G-T FANCA c.2152-39C>A - IntronicSNV - 23/42
12-56491756-G-A ERBB3 c.2616+32G>A - IntronicSNV - 21/27
2-47698095-G-A MSH2 c.1662-9G>A - IntronicSNV - 10/15
2-47698095-G-C MSH2 c.1662-9G>C - IntronicSNV - 10/15
5-112164460-A-C APC c.1627-93A>C - IntronicSNV - 13/15
2-47604278-A-G EPCAM c.555+62A>G - IntronicSNV - 5/8
16-2129495-A-C TSC2 c.3285-63A>C - IntronicSNV - 28/41
16-2129495-A-G TSC2 c.3285-63A>G - IntronicSNV - 28/41
1-27058170-T-C ARID1A c.1803+75T>C - IntronicSNV - 3/19
1-65313387-C-G JAK1 c.1756-29G>C - IntronicSNV - 12/24
7-148529683-A-G EZH2 c.363+43T>C - IntronicSNV - 4/19
16-2123008-C-T TSC2 c.2355+24C>T - IntronicSNV - 21/41
9-139401701-T-A NOTCH1 c.3643+56A>T - IntronicSNV - 22/33
9-139401701-T-C NOTCH1 c.3643+56A>G - IntronicSNV - 22/33
12-121434571-C-T HNF1A c.1309+26C>T - IntronicSNV - 6/9
16-2138007-G-A TSC2 c.5069-42G>A - IntronicSNV - 39/41
16-89858493-C-T FANCA c.1084-17G>A - IntronicSNV - 12/42
8-145738886-G-A RECQL4 c.2201-22C>T - IntronicSNV - 13/21
17-29528207-T-C NF1 c.1185+30T>C - IntronicSNV - 10/57
17-47688918-T-C SPOP c.481-99A>G - IntronicSNV - 5/9
15-89817350-A-C FANCI c.976-49A>C - IntronicSNV - 11/37
15-89790850-T-C FANCI c.1-29T>C - IntronicSNV - 1/37
17-29559942-A-C NF1 c.3496+43A>C - IntronicSNV - 26/57
2-29917700-G-A ALK c.952+16C>T - IntronicSNV - 3/28
8-30949479-C-G WRN c.1898+65C>G - IntronicSNV - 16/34
8-30949479-C-T WRN c.1898+65C>T - IntronicSNV - 16/34
2-29474165-G-A ALK c.2042-32C>T - IntronicSNV - 11/28
16-89858493-C-A FANCA c.1084-17G>T - IntronicSNV - 12/42
16-89858493-C-G FANCA c.1084-17G>C - IntronicSNV - 12/42
16-89836750-C-T FANCA c.2223-83G>A - IntronicSNV - 24/42
1-120512117-G-A NOTCH2 c.1108+17C>T - IntronicSNV - 6/33
1-120512117-G-T NOTCH2 c.1108+17C>A - IntronicSNV - 6/33
3-41275421-T-C CTNNB1 c.1524+63T>C - IntronicSNV - 9/14
19-40747996-T-C AKT2 c.442-20A>G - IntronicSNV - 5/13
9-139396165-G-A NOTCH1 c.5638+35C>T - IntronicSNV - 30/33
7-55268197-C-G EGFR c.2946+91C>G - IntronicSNV - 24/27
7-55268197-C-T EGFR c.2946+91C>T - IntronicSNV - 24/27
4-55155084-C-A PDGFRA c.2774+19C>A - IntronicSNV - 20/22
4-55155084-C-T PDGFRA c.2774+19C>T - IntronicSNV - 20/22
1-11317235-G-A MTOR c.272-13C>T - IntronicSNV - 3/57
1-11317235-G-C MTOR c.272-13C>G - IntronicSNV - 3/57
16-2133636-A-G TSC2 c.3884-60A>G - IntronicSNV - 32/41
15-89821910-C-T FANCI c.1294-8C>T - IntronicSNV - 13/37
2-58388642-A-G FANCL c.1020+15T>C - IntronicSNV - 12/13
14-68353939-T-C RAD51B c.756+18T>C - IntronicSNV - 7/10
7-55242402-C-T EGFR c.2185-13C>T - IntronicSNV - 18/27
19-11114004-C-A SMARCA4 c.1944-12C>A - IntronicSNV - 12/34
19-11114004-C-T SMARCA4 c.1944-12C>T - IntronicSNV - 12/34
16-2122375-C-T TSC2 c.2220+11C>T - IntronicSNV - 20/41
13-103518275-A-G ERCC5 c.2199+14A>G - IntronicSNV - 9/14
3-14193818-C-T XPC c.2115+17G>A - IntronicSNV - 11/15
1-11276335-T-C MTOR c.3031-44A>G - IntronicSNV - 19/57
14-45639980-T-C FANCM c.2160+31T>C - IntronicSNV - 12/22
19-40748401-A-C AKT2 c.441+40T>G - IntronicSNV - 5/13
13-103518011-G-A ERCC5 c.1955-6G>A - IntronicSNV - 8/14
2-58392812-C-T FANCL c.691+47G>A - IntronicSNV - 8/13
14-104165456-A-G XRCC3 c.821+14T>C - IntronicSNV - 9/9
17-29546013-T-C NF1 c.1528-10T>C - IntronicSNV - 13/57
5-56168573-A-T MAP3K1 c.1505+24A>T - IntronicSNV - 8/19
1-11294183-C-T MTOR c.2331+17G>A - IntronicSNV - 14/57
1-45800191-A-C MUTYH c.1-14T>G - IntronicSNV - 1/15
1-45800178-G-A MUTYH c.1-1C>T - 5-UTRSNV 2/16 -
1-45800178-G-C MUTYH c.1-1C>G - 5-UTRSNV 2/16 -
14-45624672-A-G FANCM c.1396+10A>G - IntronicSNV - 8/22
5-67575569-T-C PIK3R1 c.634+8T>C - IntronicSNV - 5/15
5-67575569-T-G PIK3R1 c.634+8T>G - IntronicSNV - 5/15
7-116403083-G-A MET c.2365-21G>A - IntronicSNV - 10/20
7-116403083-G-C MET c.2365-21G>C - IntronicSNV - 10/20
19-11102008-C-T SMARCA4 c.1419+9C>T - IntronicSNV - 8/34
10-50686378-G-A ERCC6 c.2286+22C>T - IntronicSNV - 11/20
10-50681098-G-A ERCC6 c.2710-24C>T - IntronicSNV - 14/20
10-50723362-G-A ERCC6 c.1397+8717C>T - IntronicSNV - 5/20
3-14211904-C-A XPC c.412+34G>T - IntronicSNV - 3/15
3-14211904-C-T XPC c.412+34G>A - IntronicSNV - 3/15
1-11167541-G-A MTOR c.*1C>T - 3-UTRSNV 58/58 -
1-11167541-G-C MTOR c.*1C>G - 3-UTRSNV 58/58 -
1-11188215-G-A MTOR c.5911-32C>T - IntronicSNV - 42/57
10-123325244-C-A FGFR2 c.110-26G>T - IntronicSNV - 2/17
10-123325244-C-T FGFR2 c.110-26G>A - IntronicSNV - 2/17
8-30942649-T-C WRN c.1351-33T>C - IntronicSNV - 10/34
3-10116159-T-A FANCD2 c.2716-55T>A - IntronicSNV - 28/43
10-123324889-C-T FGFR2 c.376+63G>A - IntronicSNV - 3/17
14-104174809-G-GAT XRCC3 c.193+48_193+49dup - IntronicInsertion - 5/9
16-89836526-C-T FANCA c.2316+48G>A - IntronicSNV - 25/42
15-89848993-C-G FANCI c.3349+64C>G - IntronicSNV - 31/37
15-89848993-C-T FANCI c.3349+64C>T - IntronicSNV - 31/37
15-89857807-A-G FANCI c.3721-36A>G - IntronicSNV - 35/37
8-30982158-A-G WRN c.2732+19A>G - IntronicSNV - 22/34
8-30982158-A-T WRN c.2732+19A>T - IntronicSNV - 22/34
17-63534555-C-T AXIN2 c.1060-94G>A - IntronicSNV - 4/10
4-1806018-G-A FGFR3 c.1076-39G>A - IntronicSNV - 8/17
4-1806018-G-C FGFR3 c.1076-39G>C - IntronicSNV - 8/17
4-1806018-G-T FGFR3 c.1076-39G>T - IntronicSNV - 8/17
1-120508206-G-A NOTCH2 c.1568-17C>T - IntronicSNV - 9/33
4-1806743-G-A FGFR3 c.1412+47G>A - IntronicSNV - 10/17
7-148524176-T-C EZH2 c.728+80A>G - IntronicSNV - 7/19
9-135802570-T-C TSC1 c.210+18A>G - IntronicSNV - 4/22
16-2127595-A-C TSC2 c.2838-4A>C - IntronicSNV - 25/41
16-2127595-A-G TSC2 c.2838-4A>G - IntronicSNV - 25/41
3-142277648-A-G ATR c.1733-30T>C - IntronicSNV - 7/46
8-31004859-G-T WRN c.3460-21G>T - IntronicSNV - 29/34
7-116397656-A-G MET c.1966-36A>G - IntronicSNV - 7/20
14-104165112-G-A XRCC3 c.*23C>T - 3-UTRSNV 10/10 -
14-104165112-G-T XRCC3 c.*23C>A - 3-UTRSNV 10/10 -
13-48934289-T-C RB1 c.718+26T>C - IntronicSNV - 7/26
15-89856104-G-A FANCI c.3652-31G>A - IntronicSNV - 34/37
2-212286865-G-A ERBB4 c.2867-36C>T - IntronicSNV - 23/27
2-212286865-G-T ERBB4 c.2867-36C>A - IntronicSNV - 23/27
9-5080214-C-T JAK2 c.2132-15C>T - IntronicSNV - 16/24
9-139407830-C-G NOTCH1 c.2353+14G>C - IntronicSNV - 14/33
9-139407830-C-T NOTCH1 c.2353+14G>A - IntronicSNV - 14/33
19-4101221-C-T MAP2K2 c.580+6G>A - IntronicSNV - 5/10
8-48729951-A-G PRKDC c.9554+60T>C - intron_variant - 69/86
3-10074665-T-G FANCD2 c.205+9T>G - IntronicSNV - 3/43
3-178947289-C-T PIK3CA c.2666+59C>T - IntronicSNV - 18/20
19-40741684-C-T AKT2 c.1175+113G>A - IntronicSNV - 11/13
19-40741707-G-A AKT2 c.1175+90C>T - IntronicSNV - 11/13
19-40741707-G-T AKT2 c.1175+90C>A - IntronicSNV - 11/13
5-67588926-C-T PIK3R1 c.1020-3C>T - IntronicSNV - 8/15
13-48922042-A-G RB1 c.539+43A>G - IntronicSNV - 5/26
17-29677185-A-G NF1 c.7322-16A>G - IntronicSNV - 49/57
8-48729947-A-G PRKDC c.9554+64T>C - intron_variant - 69/86
15-89816742-T-A FANCI c.975+42T>A - IntronicSNV - 11/37
15-89816742-T-C FANCI c.975+42T>C - IntronicSNV - 11/37
8-48774918-C-T PRKDC c.5916+16G>A - intron_variant - 44/86
19-40745906-T-C AKT2 c.639+46A>G - IntronicSNV - 7/13
17-33434352-C-T RAD51D c.345+33G>A - IntronicSNV - 4/9
19-11169066-C-T SMARCA4 c.4533+27C>T - IntronicSNV - 31/34
8-48743323-A-T PRKDC c.8263-26T>A - intron_variant - 61/86
14-35872586-C-G NFKBIA c.337-20G>C - IntronicSNV - 2/5
14-35872586-C-T NFKBIA c.337-20G>A - IntronicSNV - 2/5
1-156846158-C-T NTRK1 c.1633-34C>T - IntronicSNV - 13/16
11-108100100-C-G ATM c.331+50C>G - IntronicSNV - 4/62
11-108100100-C-T ATM c.331+50C>T - IntronicSNV - 4/62
11-125499116-A-G CHEK1 c.290-11A>G - IntronicSNV - 3/12
2-47613825-C-T EPCAM c.*73C>T - 3-UTRSNV 9/9 -
8-48736594-C-G PRKDC c.8781-37G>C - intron_variant - 64/86
8-48736594-C-T PRKDC c.8781-37G>A - intron_variant - 64/86
16-68846024-C-G CDH1 c.1009-14C>G - IntronicSNV - 7/15
16-68846024-C-T CDH1 c.1009-14C>T - IntronicSNV - 7/15
19-40771103-T-G AKT2 c.46+26A>C - IntronicSNV - 2/13
4-1807272-C-G FGFR3 c.1535-14C>G - IntronicSNV - 11/17
4-1807272-C-T FGFR3 c.1535-14C>T - IntronicSNV - 11/17
1-120512120-C-T NOTCH2 c.1108+14G>A - IntronicSNV - 6/33
9-100447354-G-A XPA c.556-32C>T - IntronicSNV - 4/5
19-11102007-C-T SMARCA4 c.1419+8C>T - IntronicSNV - 8/34
19-4102520-C-A MAP2K2 c.451-69G>T - IntronicSNV - 3/10
19-4102520-C-G MAP2K2 c.451-69G>C - IntronicSNV - 3/10
19-4102520-C-T MAP2K2 c.451-69G>A - IntronicSNV - 3/10
2-29498114-C-A ALK c.1913-21G>T - IntronicSNV - 10/28
2-29498114-C-T ALK c.1913-21G>A - IntronicSNV - 10/28
2-212537987-G-A ERBB4 c.1623-5C>T - IntronicSNV - 13/27
9-139407610-G-A NOTCH1 c.2354-24C>T - IntronicSNV - 14/33
11-125514584-T-G CHEK1 c.1233+46T>G - IntronicSNV - 11/12
22-30050629-C-T NF2 c.448-17C>T - IntronicSNV - 4/15
11-108159902-C-G ATM c.4236+72C>G - IntronicSNV - 28/62
11-108159902-C-T ATM c.4236+72C>T - IntronicSNV - 28/62
11-94194255-T-C MRE11 c.1226-53A>G - IntronicSNV - 11/19
11-94194255-T-G MRE11 c.1226-53A>C - IntronicSNV - 11/19
11-94212961-C-A MRE11 c.315-34G>T - IntronicSNV - 4/19
11-94212961-C-T MRE11 c.315-34G>A - IntronicSNV - 4/19
11-94212957-C-T MRE11 c.315-30G>A - IntronicSNV - 4/19
5-67589038-G-A PIK3R1 c.1118+11G>A - IntronicSNV - 9/15
5-67522916-G-A PIK3R1 c.334+79G>A - IntronicSNV - 2/15
7-55231542-G-A EGFR c.1722+26G>A - IntronicSNV - 14/27
7-55231542-G-C EGFR c.1722+26G>C - IntronicSNV - 14/27
7-55231542-G-T EGFR c.1722+26G>T - IntronicSNV - 14/27
2-47602353-A-G EPCAM c.426-20A>G - IntronicSNV - 3/8
2-47602353-A-T EPCAM c.426-20A>T - IntronicSNV - 3/8
2-47613788-G-A EPCAM c.*36G>A - 3-UTRSNV 9/9 -
11-47254530-G-A DDB2 c.602+20G>A - IntronicSNV - 4/9
11-94197431-C-G MRE11 c.1099-26G>C - IntronicSNV - 10/19
11-94197431-C-T MRE11 c.1099-26G>A - IntronicSNV - 10/19
16-2103485-C-A TSC2 c.336+32C>A - IntronicSNV - 4/41
16-2103485-C-T TSC2 c.336+32C>T - IntronicSNV - 4/41
16-89831280-G-C FANCA c.2778+18C>G - IntronicSNV - 28/42
5-67590344-T-G PIK3R1 c.1426-20T>G - IntronicSNV - 11/15
3-37067541-G-A MLH1 c.1409+43G>A - IntronicSNV - 12/18
15-91337382-C-T BLM c.3020-15C>T - IntronicSNV - 15/21
X-76814104-A-G ATRX c.6504+36T>C - IntronicSNV - 29/34
17-37682091-A-G CDK12 c.3308-26A>G - IntronicSNV - 12/13
17-37866741-G-T ERBB2 c.901+7G>T - IntronicSNV - 7/26
1-11272593-T-C MTOR c.3399-62A>G - IntronicSNV - 22/57
9-139405742-C-T NOTCH1 c.2468-19G>A - IntronicSNV - 15/33
16-14029716-A-G ERCC4 c.1811+116A>G - IntronicSNV - 8/10
16-14029716-A-T ERCC4 c.1811+116A>T - IntronicSNV - 8/10
22-24143333-G-A SMARCB1 c.500+65G>A - IntronicSNV - 4/8
5-131944947-T-C RAD50 c.2923-28T>C - IntronicSNV - 18/24
9-135772195-C-T TSC1 c.2976-54G>A - IntronicSNV - 22/22
16-23646154-T-A PALB2 c.1684+29A>T - IntronicSNV - 4/12
16-23646154-T-C PALB2 c.1684+29A>G - IntronicSNV - 4/12
14-35872113-C-G NFKBIA c.548-48G>C - IntronicSNV - 3/5
1-11189911-C-T MTOR c.5614-16G>A - IntronicSNV - 39/57
2-212615342-G-A ERBB4 c.622+22C>T - IntronicSNV - 5/27
2-212615342-G-T ERBB4 c.622+22C>A - IntronicSNV - 5/27
1-115256414-C-T NRAS c.290+7G>A - IntronicSNV - 3/6
1-11291131-G-A MTOR c.2650-20C>T - IntronicSNV - 17/57
8-145737183-A-G RECQL4 c.3394-11T>C - splice_polypyrimidine_tract_variant,intron_variant - 20/21
15-91312523-T-G BLM c.2406+62T>G - IntronicSNV - 11/21
17-33446670-C-A RAD51D c.1-38G>T - 5-UTRSNV 1/10 -
10-43619095-C-T RET c.2802-24C>T - IntronicSNV - 16/19
17-47679201-G-A SPOP c.980+26C>T - IntronicSNV - 9/9
10-43622282-T-C RET c.3187+112T>C - IntronicSNV - 19/19
16-89846227-G-A FANCA c.1715+50C>T - IntronicSNV - 18/42
16-89846227-G-C FANCA c.1715+50C>G - IntronicSNV - 18/42
16-89846227-G-T FANCA c.1715+50C>A - IntronicSNV - 18/42
14-35872113-C-T NFKBIA c.548-48G>A - IntronicSNV - 3/5
9-35077249-T-A FANCG c.646+12A>T - IntronicSNV - 5/13
9-35077249-T-C FANCG c.646+12A>G - IntronicSNV - 5/13
X-76931661-T-G ATRX c.3809+60A>C - IntronicSNV - 10/34
11-32410588-C-A WT1 c.*16G>T - 3-UTRSNV 10/10 -
11-108143616-T-A ATM c.3284+37T>A - IntronicSNV - 22/62
19-11105731-G-A SMARCA4 c.1593+54G>A - IntronicSNV - 9/34
7-55268864-C-G EGFR c.2947-17C>G - IntronicSNV - 24/27
7-55268864-C-T EGFR c.2947-17C>T - IntronicSNV - 24/27
3-14209945-C-T XPC c.413-65G>A - IntronicSNV - 3/15
7-6043443-A-C PMS2 c.251-20T>G - IntronicSNV - 3/14
16-354298-A-G AXIN1 c.1254+6T>C - IntronicSNV - 5/10
20-36026304-C-G SRC c.859+47C>G - IntronicSNV - 9/13
20-36026304-C-T SRC c.859+47C>T - IntronicSNV - 9/13
19-1221362-C-T STK11 c.862+23C>T - IntronicSNV - 6/9
3-14206880-C-T XPC c.779+48G>A - IntronicSNV - 6/15
16-2125768-G-A TSC2 c.2546-32G>A - IntronicSNV - 22/41
16-23640515-T-A PALB2 c.2586+10A>T - IntronicSNV - 6/12
16-23640515-T-C PALB2 c.2586+10A>G - IntronicSNV - 6/12
14-35871955-G-A NFKBIA c.636+22C>T - IntronicSNV - 4/5
14-35871955-G-C NFKBIA c.636+22C>G - IntronicSNV - 4/5
15-40494692-T-G BUB1B c.1628+26T>G - IntronicSNV - 13/22
3-37048441-A-C MLH1 c.381-41A>C - IntronicSNV - 4/18
3-37048441-A-G MLH1 c.381-41A>G - IntronicSNV - 4/18
5-67588910-T-C PIK3R1 c.1020-19T>C - IntronicSNV - 8/15
5-67588910-T-G PIK3R1 c.1020-19T>G - IntronicSNV - 8/15
15-89826516-G-A FANCI c.1698+35G>A - IntronicSNV - 17/37
15-89826516-G-T FANCI c.1698+35G>T - IntronicSNV - 17/37
15-89835025-T-C FANCI c.1992+80T>C - IntronicSNV - 20/37
10-43607720-G-A RET c.1648+48G>A - IntronicSNV - 8/19
16-89882407-G-A FANCA c.80-13C>T - IntronicSNV - 1/42
8-48771028-C-A PRKDC c.6462+49G>T - intron_variant - 49/86
8-48771028-C-G PRKDC c.6462+49G>C - intron_variant - 49/86
11-125507327-G-A CHEK1 c.719-17G>A - IntronicSNV - 7/12
19-11144207-C-T SMARCA4 c.3774+14C>T - IntronicSNV - 26/34
7-148515213-C-T EZH2 c.1000-4G>A - IntronicSNV - 9/19
17-7579924-G-A TP53 c.1-12C>T - 5-UTRSNV 2/11 -
1-2494755-C-T TNFRSF14 c.*43C>T - 3-UTRSNV 8/8 -
16-89865684-C-G FANCA c.827-44G>C - IntronicSNV - 9/42
16-89865684-C-T FANCA c.827-44G>A - IntronicSNV - 9/42
16-89815202-C-G FANCA c.3240-27G>C - IntronicSNV - 32/42
16-89815202-C-T FANCA c.3240-27G>A - IntronicSNV - 32/42
2-212251550-C-T ERBB4 c.3481+28G>A - IntronicSNV - 27/27
13-32890589-T-C BRCA2 c.1-9T>C - 5-UTRSNV 2/27 -
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
10-89624340-C-G PTEN c.79+35C>G - IntronicSNV - 1/8
1-11188705-G-A MTOR c.5812-96C>T - IntronicSNV - 41/57
3-37089991-C-G MLH1 c.1897-17C>G - IntronicSNV - 16/18
15-89807893-G-A FANCI c.755+55G>A - IntronicSNV - 9/37
19-45856098-G-A ERCC2 c.1832-24C>T - IntronicSNV - 19/22
16-68835823-C-A CDH1 c.387+27C>A - IntronicSNV - 3/15
5-67589697-G-GAGT PIK3R1 c.1425+36_1425+38dup - IntronicInsertion - 11/15
5-79968692-C-T MSH3 c.1027+15C>T - IntronicSNV - 6/23
11-125496752-C-A CHEK1 c.65+24C>A - IntronicSNV - 2/12
11-125496752-C-T CHEK1 c.65+24C>T - IntronicSNV - 2/12
17-12044451-A-G MAP2K4 c.1087-13A>G - IntronicSNV - 10/10
3-10116187-C-A FANCD2 c.2716-27C>A - IntronicSNV - 28/43
3-10116187-C-G FANCD2 c.2716-27C>G - IntronicSNV - 28/43
3-10116187-C-T FANCD2 c.2716-27C>T - IntronicSNV - 28/43
2-29497921-C-A ALK c.2041+44G>T - IntronicSNV - 11/28
19-4102328-G-A MAP2K2 c.528+46C>T - IntronicSNV - 4/10
17-33443915-C-T RAD51D c.263+1605G>A - IntronicSNV - 3/9
14-75498972-C-G MLH3 c.3716-90G>C - IntronicSNV - 7/12
2-29416833-A-G ALK c.4165-45T>C - IntronicSNV - 28/28
12-56491042-A-G ERBB3 c.2460+28A>G - IntronicSNV - 20/27
8-48847496-C-T PRKDC c.1497+73G>A - IntronicSNV - 14/86
8-48848547-G-A PRKDC c.1279-87C>T - IntronicSNV - 12/86
8-48848547-G-C PRKDC c.1279-87C>G - IntronicSNV - 12/86
19-40740933-G-A AKT2 c.1366+19C>T - IntronicSNV - 13/13
19-40740933-G-T AKT2 c.1366+19C>A - IntronicSNV - 13/13
8-48690178-C-T PRKDC c.12039+69G>A - intron_variant - 85/86
8-48691259-48691260---A PRKDC c.11648+29dup - intron_variant - 83/86
19-11144772-C-T SMARCA4 c.3874-27C>T - IntronicSNV - 27/34
7-55266571-G-T EGFR c.2848+15G>T - IntronicSNV - 23/27
16-89865491-G-C FANCA c.893+83C>G - IntronicSNV - 10/42
16-89865491-G-T FANCA c.893+83C>A - IntronicSNV - 10/42
9-35076690-C-T FANCG c.924+31G>A - IntronicSNV - 7/13
11-47236819-T-G DDB2 c.127+5T>G - IntronicSNV - 1/9
16-2138208-C-T TSC2 c.5161-20C>T - IntronicSNV - 40/41
3-10102103-C-T FANCD2 c.1766+16C>T - IntronicSNV - 19/43
16-89815201-G-A FANCA c.3240-26C>T - IntronicSNV - 32/42
2-212289112-C-T ERBB4 c.2720-86G>A - IntronicSNV - 22/27
19-45864905-C-A ERCC2 c.1119-5G>T - IntronicSNV - 11/22
19-45864905-C-T ERCC2 c.1119-5G>A - IntronicSNV - 11/22
2-128046461-G-A ERCC3 c.823-21C>T - IntronicSNV - 6/14
10-43623746-C-A RET c.*29C>A - 3-UTRSNV 20/20 -
1-11317259-C-A MTOR c.272-37G>T - IntronicSNV - 3/57
1-11317259-C-T MTOR c.272-37G>A - IntronicSNV - 3/57
7-148525979-C-T EZH2 c.485-7G>A - IntronicSNV - 5/19
4-1803271-C-G FGFR3 c.615+8C>G - IntronicSNV - 5/17
4-1803271-C-T FGFR3 c.615+8C>T - IntronicSNV - 5/17
3-178941848-C-A PIK3CA c.2188-21C>A - IntronicSNV - 14/20
3-178941848-C-T PIK3CA c.2188-21C>T - IntronicSNV - 14/20
17-29663964-A-G NF1 c.6427+32A>G - IntronicSNV - 42/57
8-48729960-C-T PRKDC c.9554+51G>A - intron_variant - 69/86
19-11123615-G-A SMARCA4 c.2275-10G>A - IntronicSNV - 15/34
14-68944357-T-C RAD51B c.1037-8T>C - IntronicSNV - 10/10
4-1807254-C-A FGFR3 c.1535-32C>A - IntronicSNV - 11/17
4-1807254-C-G FGFR3 c.1535-32C>G - IntronicSNV - 11/17
4-1807254-C-T FGFR3 c.1535-32C>T - IntronicSNV - 11/17
7-6042301-G-C PMS2 c.354-34C>G - IntronicSNV - 4/14
2-48018275-A-G MSH6 c.457+13A>G - IntronicSNV - 2/9
1-65332501-A-G JAK1 c.990+48T>C - IntronicSNV - 7/24
3-10114511-G-A FANCD2 c.2495-44G>A - IntronicSNV - 26/43
14-104175066-G-A XRCC3 c.56-70C>T - IntronicSNV - 4/9
16-2104271-G-C TSC2 c.337-26G>C - IntronicSNV - 4/41
17-37879761-C-T ERBB2 c.2086-30C>T - IntronicSNV - 17/26
3-10107739-C-A FANCD2 c.2385+76C>A - IntronicSNV - 25/43
2-47672671-T-C MSH2 c.1277-16T>C - IntronicSNV - 7/15
1-2494524-C-G TNFRSF14 c.727-63C>G - IntronicSNV - 7/7
1-2494524-C-T TNFRSF14 c.727-63C>T - IntronicSNV - 7/7
4-55144046-A-G PDGFRA c.1892-17A>G - IntronicSNV - 13/22
3-178937350-C-T PIK3CA c.1747-9C>T - IntronicSNV - 11/20
8-145740293-C-T RECQL4 c.1620+27G>A - IntronicSNV - 9/21
15-40457402-G-A BUB1B c.179+5G>A - IntronicSNV - 2/22
16-68867431-C-A CDH1 c.*29C>A - 3-UTRSNV 16/16 -
16-2122367-A-C TSC2 c.2220+3A>C - IntronicSNV - 20/41
9-139404171-C-A NOTCH1 c.2969+14G>T - IntronicSNV - 18/33
9-139404171-C-T NOTCH1 c.2969+14G>A - IntronicSNV - 18/33
17-37883295-C-T ERBB2 c.3159+39C>T - IntronicSNV - 25/26
4-1806311-C-T FGFR3 c.1266+64C>T - IntronicSNV - 9/17
19-11169577-G-A SMARCA4 c.4635+12G>A - IntronicSNV - 32/34
13-48923059-C-T RB1 c.540-33C>T - IntronicSNV - 5/26
17-41203148-G-C BRCA1 c.5278-14C>G - IntronicSNV - 19/22
13-48939015-C-A RB1 c.862-15C>A - IntronicSNV - 8/26
8-30982021-A-C WRN c.2631-17A>C - IntronicSNV - 21/34
4-55143669-C-T PDGFRA c.1891+10C>T - IntronicSNV - 13/22
3-142268275-T-C ATR c.3171+46A>G - IntronicSNV - 15/46
11-32410592-G-A WT1 c.*12C>T - 3-UTRSNV 10/10 -
16-89831509-G-A FANCA c.2602-35C>T - IntronicSNV - 27/42
20-36024553-G-A SRC c.554-12G>A - IntronicSNV - 7/13
5-56177625-C-T MAP3K1 c.2598C>T p.A866= Synonymous 14/20 -
2-128044451-G-A ERCC3 c.1170C>T p.C390= Synonymous 8/15 -
5-112179673-C-T APC c.8382C>T p.S2794= Synonymous 16/16 -
17-56770094-G-A RAD51C c.90G>A p.A30= Synonymous 1/9 -
17-37881618-C-T ERBB2 c.2688C>T p.R896= Synonymous 22/27 -
9-139405121-G-A NOTCH1 c.2724C>T p.I908= Synonymous 17/34 -
9-139409842-G-A NOTCH1 c.1914C>T p.C638= Synonymous 12/34 -
17-37864693-C-T ERBB2 c.345C>T p.A115= Synonymous 3/27 -
16-89845220-C-T FANCA c.1815G>A p.E605= Synonymous 20/43 -
7-140482908-T-C BRAF c.1227A>G p.S409= Synonymous 10/18 -
16-89851361-C-T FANCA c.1371G>A p.G457= Synonymous 15/43 -
9-139407905-G-A NOTCH1 c.2292C>T p.N764= Synonymous 14/34 -
2-47637323-T-G MSH2 c.457T>G p.S153A Missense 3/16 -
2-47637308-G-A MSH2 c.442G>A p.V148M Missense 3/16 -
2-47637346-G-T MSH2 c.480G>T p.Q160H Missense 3/16 -
2-47657041-C-G MSH2 c.1237C>G p.Q413E Missense 7/16 -
2-47637406-T-G MSH2 c.540T>G p.D180E Missense 3/16 -
2-47637496-G-T MSH2 c.630G>T p.M210I Missense 3/16 -
10-43606867-C-G RET c.1476C>G p.T492= Synonymous 7/20 -
17-41245309-G-A BRCA1 c.2239C>T p.P747S Missense 10/23 -
17-37673781-C-T CDK12 c.2935C>T p.R979* Nonsense 10/14 -
3-10070374-G-A FANCD2 c.33G>A p.E11= Synonymous 2/44 -
3-10108976-A-G FANCD2 c.2469A>G p.Q823= Synonymous 26/44 -
3-10123089-C-T FANCD2 c.3165C>T p.Y1055= Synonymous 32/44 -
3-178919273-A-G PIK3CA c.758A>G p.K253R Missense 4/21 -
13-32910458-A-G BRCA2 c.1966A>G p.T656A Missense 11/27 -
19-40741895-G-A AKT2 c.1077C>T p.F359= Synonymous 11/14 -
14-45636218-C-G FANCM c.1854C>G p.V618= Synonymous 11/23 -
2-128051179-C-G ERCC3 c.144G>C p.E48D Missense 2/15 -
20-36022377-G-A SRC c.430G>A p.D144N Missense 6/14 -
5-80064741-C-T MSH3 c.2172C>T p.D724= Synonymous 15/24 -
17-29676257-G-A NF1 c.7309G>A p.A2437T Missense 49/58 -
1-120458722-T-C NOTCH2 c.6623A>G p.Q2208R Missense 34/34 -
11-108115621-G-T ATM c.769G>T p.E257* Nonsense 7/63 -
17-37667793-C-G CDK12 c.2678C>G p.T893R Missense 8/14 -
22-24135837-G-A SMARCB1 c.324G>A p.K108= Synonymous 3/9 -
9-135804191-G-A TSC1 c.69C>T p.D23= Synonymous 3/23 -
13-103504507-G-A ERCC5 c.128G>A p.R43Q Missense 2/15 -
1-27056192-C-T ARID1A c.1188C>T p.G396= Synonymous 2/20 -
11-22646890-T-C FANCF c.467A>G p.N156S Missense 1/1 -
12-56481604-G-A ERBB3 c.639G>A p.Q213= Synonymous 6/28 -
1-27100182-G-C ARID1A c.3978G>C p.P1326= Synonymous 16/20 -
5-80064754-C-G MSH3 c.2185C>G p.H729D Missense 15/24 -
4-55127370-G-A PDGFRA c.158G>A p.S53N Missense 3/23 -
8-30949395-G-A WRN c.1879G>A p.V627I Missense 16/35 -
6-35434083-G-A FANCE c.1572G>A p.R524= Synonymous 10/10 -
1-65303662-A-G JAK1 c.3093T>C p.D1031= Synonymous 22/25 -
13-32915216-AGAT-A BRCA2 c.6724_6726delGAT p.D2242del InFrameDeletion 11/27 -
4-1807484-G-T FGFR3 c.1653G>T p.L551= Synonymous 13/18 -
16-343706-C-T AXIN1 c.1968G>A p.T656= Synonymous 8/11 -
17-37673738-C-A CDK12 c.2892C>A p.I964= Synonymous 10/14 -
5-80074590-A-G MSH3 c.2370A>G p.R790= Synonymous 17/24 -
7-148511171-C-T EZH2 c.1731G>A p.P577= Synonymous 15/20 -
13-103514444-C-T BIVM-ERCC5 c.2307C>T p.H769= Synonymous 16/23 -
12-121416729-G-A HNF1A c.158G>A p.G53D Missense 1/10 -
22-24145509-C-A SMARCB1 c.528C>A p.I176= Synonymous 5/9 -
16-339513-G-A AXIN1 c.2389C>T p.R797C Missense 10/11 -
5-112176410-T-A APC c.5119T>A p.S1707T Missense 16/16 -
2-29416519-C-G ALK c.4434G>C p.M1478I Missense 29/29 -
1-65335002-C-T JAK1 c.639G>A p.K213= Synonymous 6/25 -
1-11186697-G-A MTOR c.6508C>T p.R2170W Missense 46/58 -
1-11288886-G-A MTOR c.2869C>T p.R957W Missense 19/58 -
13-32900673-G-A BRCA2 c.554G>A p.G185E Missense 7/27 -
17-37673757-A-G CDK12 c.2911A>G p.T971A Missense 10/14 -
3-10081025-G-A FANCD2 c.554G>A p.R185K Missense 8/44 -
13-103518719-C-T ERCC5 c.2307C>T p.F769= Synonymous 10/15 -
12-56478841-G-A ERBB3 c.297G>A p.L99= Synonymous 3/28 -
3-37092108-C-T MLH1 c.2235C>T p.N745= Synonymous 19/19 -
19-4101253-C-T MAP2K2 c.554G>A p.R185Q Missense 5/11 -
14-75513256-C-T MLH3 c.3103G>A p.E1035K Missense 2/13 -
13-32971136-G-A BRCA2 c.9603G>A p.G3201= Synonymous 26/27 -
4-1801487-G-A FGFR3 c.393G>A p.S131= Synonymous 4/18 -
15-89844664-C-T FANCI c.2997C>T p.S999= Synonymous 27/38 -
15-89848374-G-T FANCI c.3087G>T p.M1029I Missense 29/38 -
1-156846206-G-A NTRK1 c.1647G>A p.A549= Synonymous 14/17 -
3-10107177-A-G FANCD2 c.2268A>G p.L756= Synonymous 24/44 -
10-123260350-C-T FGFR2 c.1551G>A p.K517= Synonymous 11/18 -
10-123260353-C-A FGFR2 c.1548G>T p.V516= Synonymous 11/18 -
15-66774163-G-A MAP2K1 c.639G>A p.G213= Synonymous 6/11 -
14-68352687-G-A RAD51B c.554G>A p.C185Y Missense 6/11 -
2-47707929-T-G MSH2 c.2553T>G p.L851= Synonymous 15/16 -
2-58390589-A-C FANCL c.755T>G p.F252C Missense 9/14 -
9-139401289-C-G NOTCH1 c.3780G>C p.V1260= Synonymous 23/34 -
8-128753200-C-T MYC c.1361C>T p.A454V Missense 3/3 -
2-215645901-C-A BARD1 c.697G>T p.E233* Nonsense 4/11 -
14-75498874-C-T MLH3 c.3724G>A p.E1242K Missense 8/13 -
5-112176469-A-G APC c.5178A>G p.E1726= Synonymous 16/16 -
16-89851371-G-A FANCA c.1361C>T p.A454V Missense 15/43 -
17-37618383-C-T CDK12 c.59C>T p.T20I Missense 1/14 -
2-29443623-G-A ALK c.3594C>T p.L1198= Synonymous 23/29 -
14-104177421-C-A XRCC3 c.4G>T p.D2Y Missense 4/10 -
11-47256343-G-A DDB2 c.738G>A p.T246= Synonymous 6/10 -
3-142272757-T-C ATR c.2442A>G p.E814= Synonymous 11/47 -
3-142281821-A-G ATR c.423T>C p.I141= Synonymous 4/47 -
4-1803394-G-A FGFR3 c.663G>A p.S221= Synonymous 6/18 -
16-348042-C-A AXIN1 c.1464G>T p.G488= Synonymous 6/11 -
12-46245077-G-A ARID2 c.3171G>A p.S1057= Synonymous 15/21 -
10-50678232-T-C ERCC6 c.3774A>G p.K1258= Synonymous 18/21 -
10-50690820-C-T ERCC6 c.2082G>A p.P694= Synonymous 10/21 -
9-5089688-T-C JAK2 c.2586T>C p.S862= Synonymous 20/25 -
1-156844766-C-G NTRK1 c.1320C>G p.N440K Missense 11/17 -
10-50724316-C-T PGBD3 c.845G>A p.C282Y Missense 2/2 -
19-45860621-G-C ERCC2 c.1386C>G p.S462= Synonymous 15/23 -
1-11272474-G-T MTOR c.3456C>A p.A1152= Synonymous 23/58 -
8-30948372-C-T WRN c.1743C>T p.F581= Synonymous 15/35 -
14-45668083-A-G FANCM c.5953A>G p.I1985V Missense 22/23 -
5-112173613-C-T APC c.2322C>T p.D774= Synonymous 16/16 -
2-39487918-G-A MAP4K3 c.2137C>T p.H713Y Missense 29/34 -
14-104177398-A-G XRCC3 c.27T>C p.N9= Synonymous 4/10 -
5-112102050-A-G APC c.163A>G p.I55V Missense 3/16 -
17-37673752-T-C CDK12 c.2906T>C p.F969S Missense 10/14 -
8-128750682-C-G MYC c.219C>G p.T73= Synonymous 2/3 -
19-40748442-A-C AKT2 c.440T>G p.V147G Missense 5/14 -
19-4110573-C-T MAP2K2 c.384G>A p.P128= Synonymous 3/11 -
4-55156720-A-T PDGFRA c.3121A>T p.S1041C Missense 22/23 -
17-63533531-G-A AXIN2 c.1623C>T p.C541= Synonymous 6/11 -
15-91290661-A-G BLM c.39A>G p.L13= Synonymous 2/22 -
5-80024719-C-T MSH3 c.1503C>T p.C501= Synonymous 10/24 -
1-120548125-G-A NOTCH2 c.242C>T p.A81V Missense 3/34 -
8-31000196-T-A WRN c.3288T>A p.V1096= Synonymous 27/35 -
13-32913435-C-A BRCA2 c.4943C>A p.A1648E Missense 11/27 -
2-39552721-A-G MAP4K3 c.856T>C p.L286= Synonymous 12/34 -
14-45620631-A-G FANCM c.950A>G p.Q317R Missense 5/23 -
17-11984829-G-A MAP2K4 c.375G>A p.G125= Synonymous 3/11 -
12-121431489-G-T HNF1A c.693G>T p.T231= Synonymous 3/10 -
8-128753030-G-A MYC c.1191G>A p.P397= Synonymous 3/3 -
19-40741949-G-A AKT2 c.1023C>T p.Y341= Synonymous 11/14 -
X-76953085-C-T ATRX c.228G>A p.S76= Synonymous 4/35 -
9-97934367-T-C FANCC c.408A>G p.Q136= Synonymous 5/15 -
17-33430474-T-C RAD51D c.666A>G p.E222= Synonymous 7/10 -
14-68353879-G-A RAD51B c.714G>A p.E238= Synonymous 7/11 -
2-29498326-T-G ALK c.1854A>C p.G618= Synonymous 10/29 -
19-4099308-G-A MAP2K2 c.810C>T p.P270= Synonymous 7/11 -
16-89836262-G-T FANCA c.2487C>A p.S829= Synonymous 26/43 -
13-103518036-A-G ERCC5 c.1974A>G p.Q658= Synonymous 9/15 -
13-103519119-G-A ERCC5 c.2457G>A p.R819= Synonymous 11/15 -
5-112164621-A-G APC c.1695A>G p.E565= Synonymous 14/16 -
5-112175023-A-G APC c.3732A>G p.Q1244= Synonymous 16/16 -
9-139390676-A-C NOTCH1 c.7515T>G p.P2505= Synonymous 34/34 -
16-14031695-A-G ERCC4 c.1884A>G p.E628= Synonymous 9/11 -
17-29652884-T-C NF1 c.4882T>C p.L1628= Synonymous 37/58 -
13-32905100-A-G BRCA2 c.726A>G p.K242= Synonymous 9/27 -
10-43596023-C-T RET c.190C>T p.P64S Missense 2/20 -
17-37667822-C-A CDK12 c.2707C>A p.P903T Missense 8/14 -
14-45644627-T-C FANCM c.2670T>C p.F890= Synonymous 14/23 -
2-47710049-T-C MSH2 c.2766T>C p.F922= Synonymous 16/16 -
12-46246205-G-A ARID2 c.4299G>A p.E1433= Synonymous 15/21 -
X-76891470-G-T ATRX c.4635C>A p.T1545= Synonymous 16/35 -
13-103520493-C-T ERCC5 c.2564C>T p.A855V Missense 12/15 -
16-2134384-C-T TSC2 c.4161C>T p.S1387= Synonymous 34/42 -
10-50669577-G-A ERCC6 c.3804C>T p.H1268= Synonymous 19/21 -
1-118165602-C-T TENT5C c.112C>T p.R38* Nonsense 2/2 -
1-65300248-T-C JAK1 c.3462A>G p.K1154= Synonymous 25/25 -
19-11123738-C-T SMARCA4 c.2388C>T p.L796= Synonymous 16/35 -
14-45642365-C-A FANCM c.2268C>A p.R756= Synonymous 13/23 -
8-48733405-C-G PRKDC c.9208G>C p.G3070R missense_variant 67/87 -
8-48733405-C-T PRKDC c.9208G>A p.G3070R missense_variant 67/87 -
5-131895050-C-T RAD50 c.204C>T p.H68= Synonymous 2/25 -
6-138196892-G-A TNFAIP3 c.554G>A p.G185E Missense 4/9 -
1-11194438-T-C MTOR c.5216A>G p.H1739R Missense 37/58 -
12-46244117-A-T ARID2 c.2211A>T p.G737= Synonymous 15/21 -
1-120468421-C-T NOTCH2 c.4018G>A p.A1340T Missense 25/34 -
1-11303326-A-G MTOR c.1257T>C p.H419= Synonymous 9/58 -
8-30982068-G-A WRN c.2661G>A p.K887= Synonymous 22/35 -
2-58392996-C-T FANCL c.554G>A p.S185N Missense 8/14 -
1-11300580-G-A MTOR c.1566C>T p.Y522= Synonymous 11/58 -
11-125514064-C-A CHEK1 c.1002C>A p.Y334* Nonsense 10/13 -
6-35427135-C-T FANCE c.1141C>T p.R381C Missense 6/10 -
9-139400292-G-A NOTCH1 c.4056C>T p.C1352= Synonymous 25/34 -
17-29677238-C-T NF1 c.7359C>T p.C2453= Synonymous 50/58 -
1-156841540-C-T NTRK1 c.843C>T p.N281= Synonymous 7/17 -
17-37649139-C-G CDK12 c.2244C>G p.D748E Missense 4/14 -
1-118166395-G-A TENT5C c.905G>A p.S302N Missense 2/2 -
X-14883079-C-T FANCB c.554G>A p.G185E Missense 3/10 -
3-10106096-C-G FANCD2 c.2004C>G p.S668= Synonymous 22/44 -
3-10106515-T-C FANCD2 c.2124T>C p.F708= Synonymous 23/44 -
2-128044502-C-T ERCC3 c.1119G>A p.Q373= Synonymous 8/15 -
14-68352666-A-G RAD51B c.533A>G p.H178R Missense 6/11 -
1-11293473-T-C MTOR c.2403A>G p.T801= Synonymous 15/58 -
5-80071555-A-G MSH3 c.2296A>G p.T766A Missense 16/24 -
17-37628016-G-C CDK12 c.1931G>C p.S644T Missense 2/14 -
8-48691177-G-A PRKDC c.11695C>T p.L3899F Missense 84/87 -
8-48691177-G-C PRKDC c.11695C>G p.L3899V Missense 84/87 -
12-69218191-A-T MDM2 c.407A>T p.E136V Missense 6/11 -
12-69218195-T-G MDM2 c.411T>G p.G137= Synonymous 6/11 -
12-69218199-A-G MDM2 c.415A>G p.S139G Missense 6/11 -
X-76918936-G-C ATRX c.4055C>G p.S1352C Missense 12/35 -
8-145737632-G-A RECQL4 c.3132C>T p.T1044= Synonymous 19/22 -
8-145737632-G-C RECQL4 c.3132C>G p.T1044T Missense 19/22 -
3-178917488-C-T PIK3CA c.363C>T p.I121= Synonymous 3/21 -
3-37067356-AGG-TGT MLH1 c.1267_1269delAGGinsTGT p.R423C Missense 12/19 -
11-108216625-T-C ATM c.8574T>C p.T2858= Synonymous 58/63 -
3-10115019-G-C FANCD2 c.2688G>C p.T896= Synonymous 28/44 -
8-133941328-G-A TG c.4707G>A p.Q1569= Synonymous 23/48 -
2-58425735-T-C FANCL c.534A>G p.T178= Synonymous 7/14 -
1-156849796-A-G NTRK1 c.2052A>G p.G684= Synonymous 16/17 -
2-29416750-A-G ALK c.4203T>C p.Y1401= Synonymous 29/29 -
20-36030945-T-C SRC c.1224T>C p.F408= Synonymous 12/14 -
15-40512906-A-G BUB1B c.3099A>G p.K1033= Synonymous 23/23 -
2-47607108-G-A EPCAM c.858G>A p.L286= Synonymous 7/9 -
16-89836358-C-T FANCA c.2391G>A p.A797= Synonymous 26/43 -
1-120548152-C-T NOTCH2 c.215G>A p.R72H Missense 3/34 -
6-138199671-G-A TNFAIP3 c.1089G>A p.G363= Synonymous 7/9 -
17-37618887-G-A CDK12 c.563G>A p.R188Q Missense 1/14 -
19-45864807-G-T ERCC2 c.1212C>A p.A404= Synonymous 12/23 -
15-66727431-C-A MAP2K1 c.147C>A p.R49= Synonymous 2/11 -
15-66727431-C-G MAP2K1 c.147C>G p.R49= Synonymous 2/11 -
X-76920240-T-C ATRX c.3837A>G p.E1279= Synonymous 11/35 -
5-56179395-G-A MAP3K1 c.3708G>A p.P1236= Synonymous 15/20 -
16-89839752-C-T FANCA c.1941G>A p.E647= Synonymous 22/43 -
16-89857880-C-T FANCA c.1290G>A p.A430= Synonymous 14/43 -
1-27023805-C-T ARID1A c.911C>T p.S304L Missense 1/20 -
17-37866130-G-A ERBB2 c.639G>A p.Q213= Synonymous 5/27 -
7-140476852-G-C BRAF c.1554C>G p.G518= Synonymous 13/18 -
3-142242985-C-T ATR c.4002G>A p.Q1334= Synonymous 22/47 -
2-58431336-T-C FANCL c.400A>G p.S134G Missense 6/14 -
17-37665997-C-G CDK12 c.2649C>G p.L883= Synonymous 7/14 -
17-63554100-C-T AXIN2 c.639G>A p.G213= Synonymous 2/11 -
5-112177770-C-T APC c.6479C>T p.T2160I Missense 16/16 -
3-10108991-G-A FANCD2 c.2484G>A p.K828= Synonymous 26/44 -
14-45606317-G-A FANCM c.554G>A p.R185K Missense 2/23 -
15-89847117-C-T FANCI c.3029C>T p.T1010I Missense 28/38 -
11-32450054-T-C WT1 c.758A>G p.Q258R Missense 2/10 -
1-27106587-C-T ARID1A c.6198C>T p.N2066= Synonymous 20/20 -
7-116340220-C-T MET c.1082C>T p.A361V Missense 2/21 -
12-12871199-G-A CDKN1B c.426G>A p.T142= Synonymous 1/3 -
5-131953907-T-C RAD50 c.3310T>C p.Y1104H Missense 21/25 -
5-112155008-C-A APC c.1279C>A p.H427N Missense 10/16 -
1-27101593-A-G ARID1A c.4875A>G p.I1625M Missense 18/20 -
17-11984760-G-A MAP2K4 c.306G>A p.L102= Synonymous 3/11 -
11-125514132-G-A CHEK1 c.1070G>A p.S357N Missense 10/13 -
9-35078630-G-T FANCG c.279C>A p.A93= Synonymous 3/14 -
8-48845613-A-G PRKDC c.1743T>C p.L581= Synonymous 16/87 -
1-45797851-C-T MUTYH c.836G>A p.R279Q Missense 10/16 -
1-156838334-G-A NTRK1 c.612G>A p.S204= Synonymous 6/17 -
1-156844403-C-T NTRK1 c.1236C>T p.D412= Synonymous 10/17 -
8-30938476-C-T WRN c.933C>T p.P311= Synonymous 9/35 -
17-37884051-C-T ERBB2 c.3522C>T p.S1174= Synonymous 27/27 -
17-37884054-A-T ERBB2 c.3525A>T p.P1175= Synonymous 27/27 -
17-37884099-C-T ERBB2 c.3570C>T p.A1190= Synonymous 27/27 -
17-37884111-C-T ERBB2 c.3582C>T p.P1194= Synonymous 27/27 -
17-37884114-G-A ERBB2 c.3585G>A p.E1195= Synonymous 27/27 -
17-33428250-G-A RAD51D c.873C>T p.R291= Synonymous 9/10 -
8-48792199-A-C PRKDC c.5087T>G p.L1695L Missense 40/87 -
5-112176541-C-G APC c.5250C>G p.V1750= Synonymous 16/16 -
1-11298583-G-A MTOR c.1878C>T p.C626= Synonymous 12/58 -
1-11308074-G-A MTOR c.918C>T p.F306= Synonymous 7/58 -
3-14199808-T-C XPC c.1575A>G p.I525M Missense 9/16 -
1-11300604-G-A MTOR c.1542C>T p.S514= Synonymous 11/58 -
2-128038065-C-T ERCC3 c.1485G>A p.E495= Synonymous 9/15 -
3-14200021-A-G XPC c.1362T>C p.D454= Synonymous 9/16 -
2-29462633-G-A ALK c.2268C>T p.G756= Synonymous 13/29 -
10-123258109-T-C FGFR2 c.1572A>G p.T524= Synonymous 12/18 -
8-145737821-C-T RECQL4 c.3009G>A p.V1003V synonymous_variant 18/22 -
5-56168790-A-G MAP3K1 c.1644A>G p.Q548= Synonymous 9/20 -
2-47702387-A-G MSH2 c.1983A>G p.K661= Synonymous 12/16 -
15-89821950-G-A FANCI c.1326G>A p.E442= Synonymous 14/38 -
15-89858542-C-T FANCI c.3846C>T p.S1282= Synonymous 37/38 -
9-139391594-G-C NOTCH1 c.6597C>G p.P2199= Synonymous 34/34 -
X-14883564-A-G FANCB c.69T>C p.L23= Synonymous 3/10 -
X-66931341-A-G AR c.1983A>G p.T661= Synonymous 4/8 -
10-50678829-A-G ERCC6 c.3177T>C p.S1059= Synonymous 18/21 -
8-48842554-T-C PRKDC c.1911A>G p.K637= Synonymous 18/87 -
16-343691-G-A AXIN1 c.1983C>T p.P661= Synonymous 8/11 -
2-48025875-A-G MSH6 c.753A>G p.I251M Missense 4/10 -
19-45860929-G-A ERCC2 c.1266C>T p.D422= Synonymous 13/23 -
5-80083459-G-A MSH3 c.2511G>A p.L837= Synonymous 18/24 -
1-27106975-C-T ARID1A c.6586C>T p.L2196= Synonymous 20/20 -
5-80057395-G-A MSH3 c.1794G>A p.S598= Synonymous 13/24 -
2-39570587-A-G MAP4K3 c.252T>C p.D84= Synonymous 4/34 -
1-65323363-G-A JAK1 c.1434C>T p.T478= Synonymous 10/25 -
8-48691349-C-A PRKDC c.11588G>T p.R3863L missense_variant 83/87 -
8-48691349-C-T PRKDC c.11588G>A p.R3863H missense_variant 83/87 -
9-5081812-C-G JAK2 c.2522C>G p.P841R Missense 19/25 -
3-41266883-G-A CTNNB1 c.554G>A p.R185K Missense 5/15 -
7-140476802-G-A BRAF c.1604C>T p.S535F Missense 13/18 -
2-215661807-C-T BARD1 c.193G>A p.G65R Missense 2/11 -
14-45644919-G-A FANCM c.2962G>A p.A988T Missense 14/23 -
15-89803995-C-T FANCI c.209C>T p.T70I Missense 4/38 -
1-156811905-C-T INSRR c.3396G>A p.G1132= Synonymous 19/22 -
17-29663852-T-C NF1 c.6347T>C p.L2116P Missense 42/58 -
9-97864059-A-G FANCC c.1607T>C p.L536P Missense 15/15 -
10-50724813-T-C PGBD3 c.348A>G p.K116= Synonymous 2/2 -
16-2124365-C-T TSC2 c.2520C>T p.A840= Synonymous 22/42 -
15-89838176-T-G FANCI c.2487T>G p.L829= Synonymous 24/38 -
17-37681061-A-T CDK12 c.3230A>T p.E1077V Missense 12/14 -
15-40462838-C-T BUB1B c.340C>T p.R114* Nonsense 4/23 -
7-55269024-A-T EGFR c.3090A>T p.S1030= Synonymous 25/28 -
16-14042177-C-T ERCC4 c.2724C>T p.V908= Synonymous 11/11 -
20-36024565-G-A SRC c.554G>A p.G185D Missense 8/14 -
2-215632322-C-T BARD1 c.1452G>A p.K484= Synonymous 6/11 -
9-35075747-G-A FANCG c.1148C>T p.S383F Missense 10/14 -
7-6037002-T-C PMS2 c.758A>G p.E253G Missense 7/15 -
9-139399813-G-A NOTCH1 c.4535C>T p.A1512V Missense 25/34 -
3-10140463-C-T FANCD2 c.4245C>T p.D1415= Synonymous 43/44 -
7-116397775-C-T MET c.2049C>T p.N683= Synonymous 8/21 -
12-46285659-G-A ARID2 c.5019G>A p.E1673= Synonymous 17/21 -
8-134025926-C-T TG c.6479C>T p.T2160I Missense 37/48 -
11-22646724-C-A FANCF c.633G>T p.Q211H Missense 1/1 -
9-35075692-C-T FANCG c.1203G>A p.A401= Synonymous 10/14 -
13-48951136-C-G RB1 c.1298C>G p.A433G Missense 13/27 -
1-120458998-A-G NOTCH2 c.6347T>C p.L2116P Missense 34/34 -
5-131977996-C-T RAD50 c.3879C>T p.I1293= Synonymous 25/25 -
8-133899175-AA-GC TG c.1558_1559delAAinsGC p.K520A Missense 9/48 -
14-75515930-C-G MLH3 c.429G>C p.G143= Synonymous 2/13 -
16-396798-G-A AXIN1 c.228C>T p.A76= Synonymous 2/11 -
17-29490255-C-T NF1 c.340C>T p.L114= Synonymous 4/58 -
10-50724408-G-A PGBD3 c.753C>T p.S251= Synonymous 2/2 -
19-45858105-C-T ERCC2 c.1548G>A p.V516= Synonymous 17/23 -
13-103514939-C-T BIVM-ERCC5 c.2802C>T p.H934= Synonymous 16/23 -
1-120479908-G-A NOTCH2 c.3519C>T p.C1173= Synonymous 21/34 -
17-47688746-C-T SPOP c.554G>A p.R185Q Missense 6/10 -
2-29443611-T-C ALK c.3606A>G p.G1202= Synonymous 23/29 -
3-37090424-T-C MLH1 c.2019T>C p.F673= Synonymous 18/19 -
8-145737143-G-A RECQL4 c.3423C>T p.C1141C synonymous_variant 21/22 -
12-56477600-T-C ERBB3 c.148T>C p.Y50H Missense 2/28 -
1-120458866-T-C NOTCH2 c.6479A>G p.Y2160C Missense 34/34 -
11-125523667-A-G CHEK1 c.1260A>G p.R420= Synonymous 12/13 -
17-29683994-C-T NF1 c.7755C>T p.S2585= Synonymous 53/58 -
9-5090870-A-C JAK2 c.3018A>C p.E1006D Missense 22/25 -
13-103520518-C-T ERCC5 c.2589C>T p.T863= Synonymous 12/15 -
6-138200310-G-A TNFAIP3 c.1728G>A p.P576= Synonymous 7/9 -
10-50678550-A-C ERCC6 c.3456T>G p.G1152= Synonymous 18/21 -
2-215593541-G-A BARD1 c.2193C>T p.R731= Synonymous 11/11 -
10-123244914-G-A FGFR2 c.2190C>T p.N730= Synonymous 16/18 -
9-139393577-G-A NOTCH1 c.6069C>T p.A2023= Synonymous 32/34 -
10-43612064-C-T RET c.2169C>T p.N723= Synonymous 12/20 -
15-40494661-T-C BUB1B c.1623T>C p.N541= Synonymous 13/23 -
6-35426163-T-A FANCE c.1059T>A p.P353= Synonymous 5/10 -
12-69214138-A-G MDM2 c.342A>G p.V114= Synonymous 5/11 -
13-32913047-C-T BRCA2 c.4555C>T p.P1519S Missense 11/27 -
9-139400979-C-T NOTCH1 c.4014G>A p.A1338= Synonymous 24/34 -
16-89806452-A-G FANCA c.3884T>C p.L1295S Missense 39/43 -
1-65332781-T-C JAK1 c.758A>G p.N253S Missense 7/25 -
1-11194500-C-T MTOR c.5154G>A p.Q1718= Synonymous 37/58 -
7-6037025-C-A PMS2 c.735G>T p.L245= Synonymous 7/15 -
8-48792132-C-A PRKDC c.5152G>T p.V1718F missense_variant 40/87 -
8-48792132-C-T PRKDC c.5152G>A p.V1718I missense_variant 40/87 -
8-48812982-C-A PRKDC c.3315G>T p.V1105= Synonymous 28/87 -
5-67575431-T-A PIK3R1 c.504T>A p.D168E Missense 5/16 -
8-30999075-C-T WRN c.3097C>T p.R1033W Missense 25/35 -
10-43604658-A-G RET c.1243A>G p.R415G Missense 6/20 -
X-14871244-T-C FANCB c.1243A>G p.K415E Missense 6/10 -
17-29527580-C-A NF1 c.1029C>A p.F343L Missense 9/58 -
8-30982438-A-C WRN c.2747A>C p.H916P Missense 23/35 -
10-50723681-C-A PGBD3 c.1480G>T p.V494F Missense 2/2 -
9-35075569-G-C FANCG c.1326C>G p.T442= Synonymous 10/14 -
10-123276882-A-G FGFR2 c.1035T>C p.G345= Synonymous 8/18 -
7-55214428-G-A EGFR c.554G>A p.G185D Missense 4/28 -
16-2122924-C-G TSC2 c.2295C>G p.A765= Synonymous 21/42 -
17-29665117-C-T NF1 c.6779C>T p.S2260F Missense 45/58 -
17-29576035-G-A NF1 c.4008G>A p.Q1336= Synonymous 30/58 -
8-48802880-C-G PRKDC c.4006G>C p.V1336L missense_variant 33/87 -
8-48802880-C-T PRKDC c.4006G>A p.V1336I missense_variant 33/87 -
12-46245888-T-C ARID2 c.3982T>C p.L1328= Synonymous 15/21 -
15-91303504-C-G BLM c.1215C>G p.N405K Missense 6/22 -
15-91303504-C-A BLM c.1215C>A p.N405K Missense 6/22 -
3-14200347-A-T XPC c.1036T>A p.S346T Missense 9/16 -
11-47259728-G-A DDB2 c.1228G>A p.A410T Missense 9/10 -
5-112179709-A-T APC c.8418A>T p.P2806= Synonymous 16/16 -
5-112174132-T-C APC c.2841T>C p.C947= Synonymous 16/16 -
16-2129341-C-T TSC2 c.3196C>T p.L1066F Missense 28/42 -
5-112177900-T-C APC c.6609T>C p.V2203= Synonymous 16/16 -
17-37646821-C-G CDK12 c.1943C>G p.T648S Missense 3/14 -
17-37872774-C-T ERBB2 c.1653C>T p.P551= Synonymous 14/27 -
8-48776016-T-C PRKDC c.5693A>G p.Q1897Q Missense 43/87 -
9-135787811-G-A TSC1 c.771C>T p.I257= Synonymous 9/23 -
3-142204113-C-T ATR c.6090G>A p.A2030= Synonymous 36/47 -
5-112178650-A-G APC c.7359A>G p.R2453= Synonymous 16/16 -
5-112178653-A-G APC c.7362A>G p.R2454= Synonymous 16/16 -
2-212288994-C-T ERBB4 c.2752G>A p.G918R Missense 23/28 -
16-89816239-G-A FANCA c.3138C>T p.H1046= Synonymous 32/43 -
17-37868649-G-C ERBB2 c.1096G>C p.G366R Missense 9/27 -
3-142176453-A-G ATR c.7648T>C p.L2550= Synonymous 45/47 -
9-5126770-A-C JAK2 c.3378A>C p.I1126= Synonymous 25/25 -
5-112178657-T-C APC c.7366T>C p.L2456= Synonymous 16/16 -
5-112178645-T-C APC c.7354T>C p.L2452= Synonymous 16/16 -
5-112178647-A-G APC c.7356A>G p.L2452= Synonymous 16/16 -
5-112179712-T-G APC c.8421T>G p.T2807= Synonymous 16/16 -
5-112179737-C-A APC c.8446C>A p.R2816= Synonymous 16/16 -
14-75513785-G-T MLH3 c.2574C>A p.L858= Synonymous 2/13 -
1-11199680-G-A MTOR c.4908C>T p.I1636= Synonymous 35/58 -
3-10074529-A-C FANCD2 c.78A>C p.Q26H Missense 3/44 -
17-37672018-A-T CDK12 c.2803A>T p.I935F Missense 9/14 -
12-56487911-G-A ERBB3 c.1642G>A p.E548K Missense 14/28 -
1-11300412-A-G MTOR c.1734T>C p.D578= Synonymous 11/58 -
15-66727482-C-T MAP2K1 c.198C>T p.D66= Synonymous 2/11 -
9-139400020-G-A NOTCH1 c.4328C>T p.P1443L Missense 25/34 -
2-128017002-A-C ERCC3 c.2087T>G p.M696R Missense 14/15 -
2-128046977-T-C ERCC3 c.758A>G p.E253G Missense 6/15 -
1-11300433-C-G MTOR c.1713G>C p.T571= Synonymous 11/58 -
1-11300439-G-A MTOR c.1707C>T p.G569= Synonymous 11/58 -
8-145741888-G-C RECQL4 c.615C>G p.P205= Synonymous 5/22 -
7-148507471-T-C EZH2 c.1983A>G p.K661= Synonymous 17/20 -
7-55269451-C-T EGFR c.3138C>T p.T1046= Synonymous 26/28 -
7-116339510-C-A MET c.372C>A p.T124= Synonymous 2/21 -
1-118166420-T-C TENT5C c.930T>C p.L310= Synonymous 2/2 -
1-118166381-T-G TENT5C c.891T>G p.A297= Synonymous 2/2 -
10-50681527-T-C ERCC6 c.2705A>G p.N902S Missense 14/21 -
16-89825004-G-A FANCA c.2962C>T p.L988= Synonymous 30/43 -
1-11269417-T-C MTOR c.3753A>G p.E1251= Synonymous 25/58 -
1-118166387-A-G TENT5C c.897A>G p.E299= Synonymous 2/2 -
19-11169528-G-T SMARCA4 c.4598G>T p.C1533F Missense 32/35 -
1-118166417-C-T TENT5C c.927C>T p.I309= Synonymous 2/2 -
1-156843526-A-C NTRK1 c.952A>C p.N318H Missense 8/17 -
4-55131096-G-A PDGFRA c.639G>A p.E213= Synonymous 5/23 -
19-45856017-C-T ERCC2 c.1889G>A p.S630N Missense 20/23 -
17-63553940-C-G AXIN2 c.799G>C p.V267L Missense 2/11 -
17-47700131-C-T SPOP c.42G>A p.S14= Synonymous 2/10 -
16-89805644-T-G FANCA c.4064A>C p.H1355P Missense 41/43 -
7-55273281-C-A EGFR c.3604C>A p.P1202T Missense 28/28 -
1-118166450-T-C TENT5C c.960T>C p.C320= Synonymous 2/2 -
12-121435425-G-A HNF1A c.1458G>A p.Q486= Synonymous 7/10 -
10-123324992-A-C FGFR2 c.336T>G p.T112= Synonymous 3/18 -
1-118166429-G-T TENT5C c.939G>T p.V313= Synonymous 2/2 -
1-65332750-C-T JAK1 c.789G>A p.T263= Synonymous 7/25 -
17-63534323-C-G AXIN2 c.1198G>C p.E400Q Missense 5/11 -
14-45644401-C-A FANCM c.2444C>A p.S815* Nonsense 14/23 -
15-40462846-T-C BUB1B c.348T>C p.Y116= Synonymous 4/23 -
2-39477834-C-T MAP4K3 c.2610G>A p.L870= Synonymous 34/34 -
3-142274870-T-C ATR c.2190A>G p.E730= Synonymous 10/47 -
8-30945364-G-C WRN c.1504G>C p.G502R Missense 12/35 -
11-108192049-G-A ATM c.6474G>A p.M2158I Missense 45/63 -
2-30142865-C-G ALK c.661G>C p.G221R Missense 1/29 -
14-45645779-T-C FANCM c.3822T>C p.Y1274= Synonymous 14/23 -
4-1807299-C-G FGFR3 c.1548C>G p.D516E Missense 12/18 -
19-40741880-C-T AKT2 c.1092G>A p.M364I Missense 11/14 -
17-63534416-T-G AXIN2 c.1105A>C p.T369P Missense 5/11 -
9-35077067-G-A FANCG c.678C>T p.D226= Synonymous 6/14 -
10-50686482-C-G ERCC6 c.2204G>C p.R735P Missense 11/21 -
8-48792106-C-G PRKDC c.5180G>C p.R1726S Missense 40/87 -
16-89849321-A-G FANCA c.1572T>C p.S524= Synonymous 17/43 -
8-48777161-T-C PRKDC c.5526A>G p.I1842= Synonymous 42/87 -
11-108106455-T-C ATM c.390T>C p.D130= Synonymous 5/63 -
11-108106485-T-C ATM c.420T>C p.D140= Synonymous 5/63 -
1-11182063-G-C MTOR c.6783C>G p.L2261= Synonymous 48/58 -
1-11182084-C-T MTOR c.6762G>A p.R2254= Synonymous 48/58 -
1-11182105-G-A MTOR c.6741C>T p.H2247= Synonymous 48/58 -
1-11182126-A-C MTOR c.6720T>G p.V2240= Synonymous 48/58 -
1-11182153-C-G MTOR c.6693G>C p.S2231= Synonymous 48/58 -
1-11182156-T-C MTOR c.6690A>G p.L2230= Synonymous 48/58 -
1-11182158-A-G MTOR c.6688T>C p.L2230= Synonymous 48/58 -
19-11152114-C-A SMARCA4 c.4302C>A p.D1434E Missense 30/35 -
19-11152114-C-T SMARCA4 c.4302C>T p.D1434= Synonymous 30/35 -
5-112170761-T-C APC c.1857T>C p.T619= Synonymous 15/16 -
5-112170764-T-C APC c.1860T>C p.L620= Synonymous 15/16 -
1-11187714-G-A MTOR c.6183C>T p.G2061= Synonymous 44/58 -
1-11187737-A-G MTOR c.6160T>C p.L2054= Synonymous 44/58 -
1-11187774-T-C MTOR c.6123A>G p.E2041= Synonymous 44/58 -
1-11187789-A-G MTOR c.6108T>C p.R2036= Synonymous 44/58 -
1-11190610-C-G MTOR c.5589G>C p.S1863= Synonymous 39/58 -
1-11190613-T-C MTOR c.5586A>G p.P1862= Synonymous 39/58 -
1-11190640-G-A MTOR c.5559C>T p.A1853= Synonymous 39/58 -
1-11190643-C-T MTOR c.5556G>A p.E1852= Synonymous 39/58 -
1-11190667-G-T MTOR c.5532C>A p.T1844= Synonymous 39/58 -
1-11190690-T-A MTOR c.5509A>T p.T1837S Missense 39/58 -
1-11190706-G-T MTOR c.5493C>A p.A1831= Synonymous 39/58 -
1-11190706-G-A MTOR c.5493C>T p.A1831= Synonymous 39/58 -
1-11190718-G-A MTOR c.5481C>T p.N1827= Synonymous 39/58 -
5-112154680-A-C APC c.951A>C p.S317= Synonymous 10/16 -
5-112154713-T-C APC c.984T>C p.D328= Synonymous 10/16 -
5-112154743-T-C APC c.1014T>C p.S338= Synonymous 10/16 -
5-112154773-A-G APC c.1044A>G p.R348= Synonymous 10/16 -
5-112170731-A-G APC c.1827A>G p.V609= Synonymous 15/16 -
5-112170737-T-A APC c.1833T>A p.G611= Synonymous 15/16 -
5-112170743-T-G APC c.1839T>G p.L613= Synonymous 15/16 -
5-112170750-T-C APC c.1846T>C p.L616= Synonymous 15/16 -
5-112174151-T-G APC c.2860T>G p.L954V Missense 16/16 -
5-112174153-A-G APC c.2862A>G p.L954= Synonymous 16/16 -
5-112174159-C-T APC c.2868C>T p.Y956= Synonymous 16/16 -
5-112174177-T-C APC c.2886T>C p.D962= Synonymous 16/16 -
5-112174194-G-C APC c.2903G>C p.S968T Missense 16/16 -
5-112174207-T-A APC c.2916T>A p.G972= Synonymous 16/16 -
5-112174222-T-C APC c.2931T>C p.G977= Synonymous 16/16 -
5-112174270-G-A APC c.2979G>A p.K993= Synonymous 16/16 -
5-112174288-A-G APC c.2997A>G p.Q999= Synonymous 16/16 -
5-112174291-C-T APC c.3000C>T p.Y1000= Synonymous 16/16 -
5-112174312-A-G APC c.3021A>G p.K1007= Synonymous 16/16 -
5-112174318-T-C APC c.3027T>C p.H1009= Synonymous 16/16 -
5-112176388-G-T APC c.5097G>T p.E1699D Missense 16/16 -
5-112176405-C-T APC c.5114C>T p.T1705I Missense 16/16 -
5-112176413-G-A APC c.5122G>A p.V1708I Missense 16/16 -
5-112176420-T-G APC c.5129T>G p.I1710R Missense 16/16 -
5-112176439-T-C APC c.5148T>C p.N1716= Synonymous 16/16 -
5-112176454-T-A APC c.5163T>A p.G1721= Synonymous 16/16 -
5-112176472-C-T APC c.5181C>T p.C1727= Synonymous 16/16 -
5-112176475-T-C APC c.5184T>C p.I1728= Synonymous 16/16 -
5-112176496-G-A APC c.5205G>A p.G1735= Synonymous 16/16 -
5-112176502-T-C APC c.5211T>C p.S1737= Synonymous 16/16 -
5-112178581-T-C APC c.7290T>C p.D2430= Synonymous 16/16 -
5-112178593-A-G APC c.7302A>G p.R2434= Synonymous 16/16 -
5-112178598-T-C APC c.7307T>C p.V2436A Missense 16/16 -
5-112178614-A-T APC c.7323A>T p.S2441= Synonymous 16/16 -
5-112178632-T-C APC c.7341T>C p.A2447= Synonymous 16/16 -
5-112178671-T-C APC c.7380T>C p.A2460= Synonymous 16/16 -
1-118166477-T-C TENT5C c.987T>C p.T329= Synonymous 2/2 -
1-118166516-G-A TENT5C c.1026G>A p.A342= Synonymous 2/2 -
1-118166567-G-A TENT5C c.1077G>A p.P359= Synonymous 2/2 -
1-118166570-C-T TENT5C c.1080C>T p.A360= Synonymous 2/2 -
1-120458169-A-G NOTCH2 c.7176T>C p.Y2392= Synonymous 34/34 -
1-120458178-C-T NOTCH2 c.7167G>A p.Q2389= Synonymous 34/34 -
1-120458181-T-G NOTCH2 c.7164A>C p.S2388= Synonymous 34/34 -
1-120458231-C-T NOTCH2 c.7114G>A p.A2372T Missense 34/34 -
1-120458235-G-C NOTCH2 c.7110C>G p.L2370= Synonymous 34/34 -
1-120458237-G-C NOTCH2 c.7108C>G p.L2370V Missense 34/34 -
1-120462007-G-T NOTCH2 c.5709C>A p.A1903= Synonymous 31/34 -
1-120462013-T-C NOTCH2 c.5703A>G p.A1901= Synonymous 31/34 -
1-120462019-T-A NOTCH2 c.5697A>T p.A1899= Synonymous 31/34 -
1-11288839-G-C MTOR c.2916C>G p.V972= Synonymous 19/58 -
1-11288842-A-C MTOR c.2913T>G p.V971= Synonymous 19/58 -
1-11288854-A-G MTOR c.2901T>C p.H967= Synonymous 19/58 -
1-11288857-A-G MTOR c.2898T>C p.H966= Synonymous 19/58 -
1-11288866-T-A MTOR c.2889A>T p.S963= Synonymous 19/58 -
1-11288869-C-T MTOR c.2886G>A p.Q962= Synonymous 19/58 -
1-11288872-G-A MTOR c.2883C>T p.D961= Synonymous 19/58 -
1-11288892-G-A MTOR c.2863C>T p.L955= Synonymous 19/58 -
16-2124314-G-T TSC2 c.2469G>T p.L823= Synonymous 22/42 -
1-11288911-T-G MTOR c.2844A>C p.P948= Synonymous 19/58 -
1-11300382-C-G MTOR c.1764G>C p.T588= Synonymous 11/58 -
1-11300388-G-A MTOR c.1758C>T p.L586= Synonymous 11/58 -
1-11300407-C-G MTOR c.1739G>C p.G580A Missense 11/58 -
1-11300445-A-G MTOR c.1701T>C p.S567= Synonymous 11/58 -
1-11300448-G-A MTOR c.1698C>T p.A566= Synonymous 11/58 -
1-11300457-A-G MTOR c.1689T>C p.H563= Synonymous 11/58 -
1-11300460-G-A MTOR c.1686C>T p.A562= Synonymous 11/58 -
1-11300469-C-T MTOR c.1677G>A p.K559= Synonymous 11/58 -
1-11300487-G-C MTOR c.1659C>G p.R553= Synonymous 11/58 -
1-11300490-A-G MTOR c.1656T>C p.L552= Synonymous 11/58 -
1-11303266-T-C MTOR c.1317A>G p.L439= Synonymous 9/58 -
7-116339426-C-A MET c.288C>A p.F96L Missense 2/21 -
7-116339429-A-T MET c.291A>T p.P97= Synonymous 2/21 -
7-116339434-A-G MET c.296A>G p.Q99R Missense 2/21 -
7-116339458-T-C MET c.320T>C p.L107S Missense 2/21 -
7-116339468-T-G MET c.330T>G p.G110= Synonymous 2/21 -
7-116339480-T-C MET c.342T>C p.D114= Synonymous 2/21 -
7-116423499-A-G MET c.3774A>G p.Q1258= Synonymous 19/21 -
7-116423514-G-A MET c.3789G>A p.K1263= Synonymous 19/21 -
1-120471666-A-C NOTCH2 c.3825T>G p.S1275= Synonymous 23/34 -
1-118165931-G-A TENT5C c.441G>A p.T147= Synonymous 2/2 -
1-118165937-T-A TENT5C c.447T>A p.T149= Synonymous 2/2 -
1-118165955-C-T TENT5C c.465C>T p.I155= Synonymous 2/2 -
1-118165978-A-G TENT5C c.488A>G p.K163R Missense 2/2 -
1-118165991-G-C TENT5C c.501G>C p.L167= Synonymous 2/2 -
1-118166009-T-C TENT5C c.519T>C p.I173= Synonymous 2/2 -
1-118166015-T-G TENT5C c.525T>G p.R175= Synonymous 2/2 -
1-118166030-T-C TENT5C c.540T>C p.S180= Synonymous 2/2 -
1-118166360-T-C TENT5C c.870T>C p.T290= Synonymous 2/2 -
1-118166369-A-G TENT5C c.879A>G p.Q293= Synonymous 2/2 -
5-112178683-T-C APC c.7392T>C p.S2464= Synonymous 16/16 -
5-112178695-A-T APC c.7404A>T p.S2468= Synonymous 16/16 -
5-112178902-T-C APC c.7611T>C p.S2537= Synonymous 16/16 -
5-112178908-T-A APC c.7617T>A p.L2539= Synonymous 16/16 -
5-112178921-T-G APC c.7630T>G p.S2544A Missense 16/16 -
5-112178923-A-G APC c.7632A>G p.S2544= Synonymous 16/16 -
5-112178935-A-G APC c.7644A>G p.K2548= Synonymous 16/16 -
5-112178941-G-A APC c.7650G>A p.E2550= Synonymous 16/16 -
5-112178956-A-C APC c.7665A>C p.S2555= Synonymous 16/16 -
5-112178959-A-G APC c.7668A>G p.S2556= Synonymous 16/16 -
5-112178974-A-G APC c.7683A>G p.V2561= Synonymous 16/16 -
5-112178977-C-T APC c.7686C>T p.S2562= Synonymous 16/16 -
5-112178998-T-C APC c.7707T>C p.S2569= Synonymous 16/16 -
5-112179007-A-T APC c.7716A>T p.S2572= Synonymous 16/16 -
17-47685282-G-A SPOP c.668C>T p.P223L Missense 7/10 -
1-120462031-A-G NOTCH2 c.5685T>C p.R1895= Synonymous 31/34 -
1-120462034-C-T NOTCH2 c.5682G>A p.K1894= Synonymous 31/34 -
1-120462049-C-T NOTCH2 c.5667G>A p.R1889= Synonymous 31/34 -
1-120462055-G-A NOTCH2 c.5661C>T p.Y1887= Synonymous 31/34 -
1-120462085-A-G NOTCH2 c.5631T>C p.G1877= Synonymous 31/34 -
1-120462091-C-G NOTCH2 c.5625G>C p.R1875= Synonymous 31/34 -
1-120462103-G-T NOTCH2 c.5613C>A p.A1871= Synonymous 31/34 -
1-120462106-C-T NOTCH2 c.5610G>A p.Q1870= Synonymous 31/34 -
1-120462109-G-A NOTCH2 c.5607C>T p.L1869= Synonymous 31/34 -
1-120462121-C-T NOTCH2 c.5595G>A p.Q1865= Synonymous 31/34 -
12-121432072-A-G HNF1A c.819A>G p.K273= Synonymous 4/10 -
12-121432094-C-T HNF1A c.841C>T p.L281= Synonymous 4/10 -
12-121432108-G-C HNF1A c.855G>C p.T285= Synonymous 4/10 -
12-121432111-C-T HNF1A c.858C>T p.Y286= Synonymous 4/10 -
10-123325040-G-A FGFR2 c.288C>T p.G96= Synonymous 3/18 -
10-123325166-T-G FGFR2 c.162A>C p.P54= Synonymous 3/18 -
10-123325193-A-G FGFR2 c.135T>C p.S45= Synonymous 3/18 -
11-125503074-A-T CHEK1 c.441A>T p.S147= Synonymous 6/13 -
12-121432162-C-T HNF1A c.909C>T p.S303= Synonymous 4/10 -
12-121432168-T-C HNF1A c.915T>C p.P305= Synonymous 4/10 -
12-121432181-C-A HNF1A c.928C>A p.P310T Missense 4/10 -
10-123239407-A-C FGFR2 c.2430T>G p.P810= Synonymous 18/18 -
5-131939638-A-C RAD50 c.2424A>C p.K808N Missense 15/25 -
10-123239443-A-C FGFR2 c.2394T>G p.F798L Missense 18/18 -
10-123239452-A-G FGFR2 c.2385T>C p.D795= Synonymous 18/18 -
10-123239470-A-G FGFR2 c.2367T>C p.S789= Synonymous 18/18 -
9-135778019-T-C TSC1 c.2364A>G p.E788= Synonymous 18/23 -
5-131939127-A-T RAD50 c.2343A>T p.E781D Missense 14/25 -
12-121437117-C-A HNF1A c.1548C>A p.G516= Synonymous 8/10 -
12-121437093-G-A HNF1A c.1524G>A p.E508= Synonymous 8/10 -
12-121437084-C-T HNF1A c.1515C>T p.H505= Synonymous 8/10 -
12-121435455-G-A HNF1A c.1488G>A p.L496= Synonymous 7/10 -
10-123260434-T-C FGFR2 c.1467A>G p.E489= Synonymous 11/18 -
5-131931314-A-G RAD50 c.2019A>G p.L673= Synonymous 13/25 -
5-131931332-A-C RAD50 c.2037A>C p.S679= Synonymous 13/25 -
5-131931335-T-C RAD50 c.2040T>C p.C680= Synonymous 13/25 -
5-131931344-T-C RAD50 c.2049T>C p.V683= Synonymous 13/25 -
5-131931356-T-A RAD50 c.2061T>A p.V687= Synonymous 13/25 -
5-131931380-A-G RAD50 c.2085A>G p.Q695= Synonymous 13/25 -
5-131931392-T-C RAD50 c.2097T>C p.S699= Synonymous 13/25 -
5-131931395-T-C RAD50 c.2100T>C p.D700= Synonymous 13/25 -
5-131931404-T-C RAD50 c.2109T>C p.S703= Synonymous 13/25 -
5-131931407-A-G RAD50 c.2112A>G p.K704= Synonymous 13/25 -
5-131931411-C-A RAD50 c.2116C>A p.R706= Synonymous 13/25 -
5-131931413-A-G RAD50 c.2118A>G p.R706= Synonymous 13/25 -
5-131939082-C-T RAD50 c.2298C>T p.N766= Synonymous 14/25 -
5-131939094-A-G RAD50 c.2310A>G p.E770= Synonymous 14/25 -
5-131939097-A-G RAD50 c.2313A>G p.Q771= Synonymous 14/25 -
9-135781339-C-T TSC1 c.1626G>A p.K542= Synonymous 15/23 -
9-135781100-C-T TSC1 c.1865G>A p.R622K Missense 15/23 -
9-135781103-A-C TSC1 c.1862T>G p.I621S Missense 15/23 -
9-135781111-A-G TSC1 c.1854T>C p.H618= Synonymous 15/23 -
9-135781120-T-A TSC1 c.1845A>T p.T615= Synonymous 15/23 -
9-135781132-T-G TSC1 c.1833A>C p.A611= Synonymous 15/23 -
9-135781144-A-G TSC1 c.1821T>C p.L607= Synonymous 15/23 -
9-135781156-C-T TSC1 c.1809G>A p.P603= Synonymous 15/23 -
9-135781171-G-A TSC1 c.1794C>T p.S598= Synonymous 15/23 -
9-135781188-T-C TSC1 c.1777A>G p.R593G Missense 15/23 -
9-135781190-G-C TSC1 c.1775C>G p.T592R Missense 15/23 -
9-135781193-G-T TSC1 c.1772C>A p.P591Q Missense 15/23 -
9-135781201-A-G TSC1 c.1764T>C p.I588= Synonymous 15/23 -
9-135781207-A-G TSC1 c.1758T>C p.C586= Synonymous 15/23 -
9-135781337-A-T TSC1 c.1628T>A p.L543H Missense 15/23 -
11-125503092-A-G CHEK1 c.459A>G p.T153= Synonymous 6/13 -
11-125503102-T-C CHEK1 c.469T>C p.Y157H Missense 6/13 -
11-125503119-T-C CHEK1 c.486T>C p.R162= Synonymous 6/13 -
11-125503140-T-G CHEK1 c.507T>G p.G169= Synonymous 6/13 -
11-125503149-A-T CHEK1 c.516A>T p.P172= Synonymous 6/13 -
11-125503161-A-G CHEK1 c.528A>G p.P176= Synonymous 6/13 -
11-125503164-A-G CHEK1 c.531A>G p.E177= Synonymous 6/13 -
11-125503170-G-A CHEK1 c.537G>A p.L179= Synonymous 6/13 -
5-131931308-T-G RAD50 c.2013T>G p.T671= Synonymous 13/25 -
10-123325169-C-G FGFR2 c.159G>C p.A53= Synonymous 3/18 -
1-27105597-G-A ARID1A c.5208G>A p.V1736= Synonymous 20/20 -
9-135781357-T-C TSC1 c.1608A>G p.L536= Synonymous 15/23 -
10-123260446-C-T FGFR2 c.1455G>A p.K485= Synonymous 11/18 -
9-135781380-C-A TSC1 c.1585G>T p.A529S Missense 15/23 -
9-135781405-G-A TSC1 c.1560C>T p.H520= Synonymous 15/23 -
9-135781408-G-A TSC1 c.1557C>T p.T519= Synonymous 15/23 -
9-135781423-A-G TSC1 c.1542T>C p.G514= Synonymous 15/23 -
9-135781426-T-A TSC1 c.1539A>T p.P513= Synonymous 15/23 -
9-135801046-T-C TSC1 c.291A>G p.I97M Missense 5/23 -
9-135801055-A-C TSC1 c.282T>G p.G94= Synonymous 5/23 -
9-135801063-A-G TSC1 c.274T>C p.L92= Synonymous 5/23 -
9-139391860-T-G NOTCH1 c.6331A>C p.R2111= Synonymous 34/34 -
9-139391867-G-A NOTCH1 c.6324C>T p.D2108= Synonymous 34/34 -
9-139391873-A-G NOTCH1 c.6318T>C p.H2106= Synonymous 34/34 -
9-139391879-G-A NOTCH1 c.6312C>T p.R2104= Synonymous 34/34 -
9-139391897-G-C NOTCH1 c.6294C>G p.R2098= Synonymous 34/34 -
9-139391915-A-G NOTCH1 c.6276T>C p.H2092= Synonymous 34/34 -
9-139396792-G-A NOTCH1 c.5316C>T p.G1772= Synonymous 28/34 -
9-139396852-G-A NOTCH1 c.5256C>T p.C1752= Synonymous 28/34 -
9-139396870-A-G NOTCH1 c.5238T>C p.L1746= Synonymous 28/34 -
7-140501292-G-A BRAF c.780C>T p.R260= Synonymous 6/18 -
7-140501319-A-G BRAF c.753T>C p.C251= Synonymous 6/18 -
3-142224017-A-G ATR c.5160T>C p.A1720= Synonymous 29/47 -
3-142224059-G-A ATR c.5118C>T p.I1706= Synonymous 29/47 -
3-142224068-T-C ATR c.5109A>G p.K1703= Synonymous 29/47 -
3-142224071-T-C ATR c.5106A>G p.L1702= Synonymous 29/47 -
3-142224074-A-G ATR c.5103T>C p.S1701= Synonymous 29/47 -
3-142224080-T-C ATR c.5097A>G p.E1699= Synonymous 29/47 -
3-142224083-T-G ATR c.5094A>C p.A1698= Synonymous 29/47 -
3-142224086-C-T ATR c.5091G>A p.K1697= Synonymous 29/47 -
3-142224089-T-C ATR c.5088A>G p.R1696= Synonymous 29/47 -
3-142224091-T-G ATR c.5086A>C p.R1696= Synonymous 29/47 -
3-142224101-G-T ATR c.5076C>A p.V1692= Synonymous 29/47 -
3-142224119-A-T ATR c.5058T>A p.P1686= Synonymous 29/47 -
3-142224122-T-C ATR c.5055A>G p.E1685= Synonymous 29/47 -
9-139399944-G-A NOTCH1 c.4404C>T p.N1468= Synonymous 25/34 -
9-139399947-G-A NOTCH1 c.4401C>T p.C1467= Synonymous 25/34 -
9-139399957-C-T NOTCH1 c.4391G>A p.S1464N Missense 25/34 -
9-139399968-G-A NOTCH1 c.4380C>T p.N1460= Synonymous 25/34 -
9-139399974-C-T NOTCH1 c.4374G>A p.A1458= Synonymous 25/34 -
9-139399981-T-A NOTCH1 c.4367A>T p.E1456V Missense 25/34 -
9-139399992-G-A NOTCH1 c.4356C>T p.P1452= Synonymous 25/34 -
9-139400001-G-A NOTCH1 c.4347C>T p.C1449= Synonymous 25/34 -
9-139400004-C-G NOTCH1 c.4344G>C p.A1448= Synonymous 25/34 -
9-139400017-A-T NOTCH1 c.4331T>A p.L1444Q Missense 25/34 -
9-139400022-C-T NOTCH1 c.4326G>A p.P1442= Synonymous 25/34 -
9-139400028-G-A NOTCH1 c.4320C>T p.I1440= Synonymous 25/34 -
9-139400043-C-G NOTCH1 c.4305G>C p.G1435= Synonymous 25/34 -
9-139400097-G-A NOTCH1 c.4251C>T p.P1417= Synonymous 25/34 -
9-139400103-C-T NOTCH1 c.4245G>A p.L1415= Synonymous 25/34 -
9-139400106-G-A NOTCH1 c.4242C>T p.C1414= Synonymous 25/34 -
9-139400109-A-G NOTCH1 c.4239T>C p.R1413= Synonymous 25/34 -
9-139400118-G-A NOTCH1 c.4230C>T p.P1410= Synonymous 25/34 -
9-139400145-C-G NOTCH1 c.4203G>C p.G1401= Synonymous 25/34 -
9-139400151-G-A NOTCH1 c.4197C>T p.N1399= Synonymous 25/34 -
9-139409942-C-T NOTCH1 c.1896G>A p.G632= Synonymous 11/34 -
9-139409948-C-G NOTCH1 c.1890G>C p.L630= Synonymous 11/34 -
9-139409954-G-T NOTCH1 c.1884C>A p.F628L Missense 11/34 -
7-140434475-C-T BRAF c.2223G>A p.E741= Synonymous 18/18 -
7-140501229-A-T BRAF c.843T>A p.V281= Synonymous 6/18 -
7-140501247-T-C BRAF c.825A>G p.E275= Synonymous 6/18 -
3-142274827-A-G ATR c.2233T>C p.L745= Synonymous 10/47 -
3-142274832-C-T ATR c.2228G>A p.R743K Missense 10/47 -
3-142274836-A-T ATR c.2224T>A p.C742S Missense 10/47 -
3-142274840-G-C ATR c.2220C>G p.L740= Synonymous 10/47 -
4-1808016-G-A FGFR3 c.1992G>A p.E664= Synonymous 15/18 -
7-148507452-A-G EZH2 c.2002T>C p.C668R Missense 17/20 -
3-142275299-C-A ATR c.2004G>T p.R668= Synonymous 9/47 -
2-212288902-G-A ERBB4 c.2844C>T p.D948= Synonymous 23/28 -
2-212288989-T-C ERBB4 c.2757A>G p.K919= Synonymous 23/28 -
2-212426688-G-A ERBB4 c.2427C>T p.H809= Synonymous 20/28 -
2-212426715-G-C ERBB4 c.2400C>G p.P800= Synonymous 20/28 -
2-212426721-A-C ERBB4 c.2394T>G p.L798= Synonymous 20/28 -
2-212426724-T-C ERBB4 c.2391A>G p.Q797= Synonymous 20/28 -
2-212426727-A-C ERBB4 c.2388T>G p.T796= Synonymous 20/28 -
2-212426735-G-A ERBB4 c.2380C>T p.L794= Synonymous 20/28 -
2-212426742-G-A ERBB4 c.2373C>T p.T791= Synonymous 20/28 -
2-212426745-T-G ERBB4 c.2370A>C p.P790= Synonymous 20/28 -
2-212426760-A-T ERBB4 c.2355T>A p.G785= Synonymous 20/28 -
2-212426772-G-A ERBB4 c.2343C>T p.V781= Synonymous 20/28 -
16-2131747-G-A TSC2 c.3762G>A p.S1254= Synonymous 31/42 -
4-1803152-C-T FGFR3 c.504C>T p.A168= Synonymous 5/18 -
2-48027804-G-A MSH6 c.2682G>A p.Q894= Synonymous 4/10 -
3-142274848-C-T ATR c.2212G>A p.V738M Missense 10/47 -
3-142274862-G-A ATR c.2198C>T p.S733F Missense 10/47 -
3-142274865-A-C ATR c.2195T>G p.F732C Missense 10/47 -
3-142274877-A-G ATR c.2183T>C p.L728S Missense 10/47 -
3-142274879-A-G ATR c.2181T>C p.S727= Synonymous 10/47 -
7-148543597-G-T EZH2 c.211C>A p.L71M Missense 3/20 -
7-148543619-T-C EZH2 c.189A>G p.R63= Synonymous 3/20 -
7-148543631-T-C EZH2 c.177A>G p.E59= Synonymous 3/20 -
7-148543644-A-G EZH2 c.164T>C p.I55T Missense 3/20 -
7-148543649-C-A EZH2 c.159G>T p.T53= Synonymous 3/20 -
3-142281093-C-A ATR c.1151G>T p.G384V Missense 4/47 -
7-148515048-C-G EZH2 c.1161G>C p.R387S Missense 10/20 -
4-1806160-G-A FGFR3 c.1179G>A p.V393= Synonymous 9/18 -
7-148514991-T-C EZH2 c.1218A>G p.K406= Synonymous 10/20 -
2-212568896-G-A ERBB4 c.1222C>T p.P408S Missense 11/28 -
7-148514478-T-C EZH2 c.1246A>G p.N416D Missense 11/20 -
3-142280171-G-A ATR c.1263C>T p.S421= Synonymous 5/47 -
4-1807293-C-T FGFR3 c.1542C>T p.A514= Synonymous 12/18 -
16-2124320-T-C TSC2 c.2475T>C p.V825= Synonymous 22/42 -
16-2124344-C-T TSC2 c.2499C>T p.I833= Synonymous 22/42 -
16-2124347-A-T TSC2 c.2502A>T p.S834= Synonymous 22/42 -
16-2124371-A-G TSC2 c.2526A>G p.P842= Synonymous 22/42 -
16-2124374-G-C TSC2 c.2529G>C p.L843= Synonymous 22/42 -
4-1806154-G-A FGFR3 c.1173G>A p.A391= Synonymous 9/18 -
4-1806154-G-C FGFR3 c.1173G>C p.A391= Synonymous 9/18 -
4-1808010-G-A FGFR3 c.1986G>A p.A662= Synonymous 15/18 -
4-1808010-G-T FGFR3 c.1986G>T p.A662= Synonymous 15/18 -
9-139396876-A-G NOTCH1 c.5232T>C p.F1744= Synonymous 28/34 -
9-139396888-C-T NOTCH1 c.5220G>A p.A1740= Synonymous 28/34 -
9-139399932-G-A NOTCH1 c.4416C>T p.C1472= Synonymous 25/34 -
9-139399935-C-T NOTCH1 c.4413G>A p.A1471= Synonymous 25/34 -
22-30069389-C-G NF2 c.1254C>G p.R418= Synonymous 12/16 -
1-27105600-T-G ARID1A c.5211T>G p.G1737= Synonymous 20/20 -
1-27057783-A-G ARID1A c.1491A>G p.Q497= Synonymous 3/20 -
1-27057744-C-T ARID1A c.1452C>T p.P484= Synonymous 3/20 -
1-27057748-T-G ARID1A c.1456T>G p.S486A Missense 3/20 -
1-27094346-T-C ARID1A c.3054T>C p.P1018= Synonymous 11/20 -
1-27094370-T-G ARID1A c.3078T>G p.R1026= Synonymous 11/20 -
1-27094373-T-C ARID1A c.3081T>C p.Y1027= Synonymous 11/20 -
1-27094427-T-G ARID1A c.3135T>G p.G1045= Synonymous 11/20 -
1-27094433-A-G ARID1A c.3141A>G p.K1047= Synonymous 11/20 -
1-27101341-C-T ARID1A c.4623C>T p.H1541= Synonymous 18/20 -
1-27101377-C-T ARID1A c.4659C>T p.P1553= Synonymous 18/20 -
1-27101380-A-G ARID1A c.4662A>G p.P1554= Synonymous 18/20 -
1-27101389-C-T ARID1A c.4671C>T p.P1557= Synonymous 18/20 -
1-27101392-T-A ARID1A c.4674T>A p.S1558= Synonymous 18/20 -
1-27101401-G-T ARID1A c.4683G>T p.V1561= Synonymous 18/20 -
1-27101491-G-C ARID1A c.4773G>C p.L1591= Synonymous 18/20 -
1-27101515-C-T ARID1A c.4797C>T p.T1599= Synonymous 18/20 -
1-27105540-A-G ARID1A c.5151A>G p.V1717= Synonymous 20/20 -
1-27105567-G-A ARID1A c.5178G>A p.E1726= Synonymous 20/20 -
1-27105624-G-A ARID1A c.5235G>A p.L1745= Synonymous 20/20 -
1-27105627-T-C ARID1A c.5238T>C p.D1746= Synonymous 20/20 -
1-27105641-G-C ARID1A c.5252G>C p.S1751T Missense 20/20 -
1-27106905-C-A ARID1A c.6516C>A p.A2172= Synonymous 20/20 -
1-27106908-C-T ARID1A c.6519C>T p.N2173= Synonymous 20/20 -
1-27106914-T-C ARID1A c.6525T>C p.A2175= Synonymous 20/20 -
1-27106935-T-C ARID1A c.6546T>C p.A2182= Synonymous 20/20 -
1-27106938-T-G ARID1A c.6549T>G p.R2183= Synonymous 20/20 -
1-27106962-T-C ARID1A c.6573T>C p.S2191= Synonymous 20/20 -
1-27107142-T-C ARID1A c.6753T>C p.F2251= Synonymous 20/20 -
1-27107154-A-G ARID1A c.6765A>G p.E2255= Synonymous 20/20 -
1-27107175-G-C ARID1A c.6786G>C p.S2262= Synonymous 20/20 -
1-27107178-A-G ARID1A c.6789A>G p.V2263= Synonymous 20/20 -
14-35871675-A-G NFKBIA c.831T>C p.L277= Synonymous 5/6 -
1-27057804-A-G ARID1A c.1512A>G p.P504= Synonymous 3/20 -
17-29663805-T-G NF1 c.6300T>G p.L2100= Synonymous 42/58 -
1-27057808-T-A ARID1A c.1516T>A p.S506T Missense 3/20 -
1-27057813-A-G ARID1A c.1521A>G p.Q507= Synonymous 3/20 -
1-27057825-C-T ARID1A c.1533C>T p.L511= Synonymous 3/20 -
1-27088686-C-T ARID1A c.2295C>T p.P765= Synonymous 7/20 -
1-27088692-C-T ARID1A c.2301C>T p.P767= Synonymous 7/20 -
1-27088698-A-G ARID1A c.2307A>G p.S769= Synonymous 7/20 -
1-27088707-T-C ARID1A c.2316T>C p.S772= Synonymous 7/20 -
1-27088710-G-A ARID1A c.2319G>A p.P773= Synonymous 7/20 -
1-27088719-T-G ARID1A c.2328T>G p.P776= Synonymous 7/20 -
1-27088722-C-T ARID1A c.2331C>T p.S777= Synonymous 7/20 -
1-27088740-A-G ARID1A c.2349A>G p.T783= Synonymous 7/20 -
1-27088779-T-C ARID1A c.2388T>C p.Y796= Synonymous 7/20 -
1-27088782-T-C ARID1A c.2391T>C p.G797= Synonymous 7/20 -
17-29663781-T-C NF1 c.6276T>C p.N2092= Synonymous 42/58 -
17-29663787-T-C NF1 c.6282T>C p.L2094= Synonymous 42/58 -
17-29663796-A-G NF1 c.6291A>G p.A2097= Synonymous 42/58 -
17-29663811-C-T NF1 c.6306C>T p.Y2102= Synonymous 42/58 -
17-29663820-C-T NF1 c.6315C>T p.H2105= Synonymous 42/58 -
17-29663826-T-C NF1 c.6321T>C p.V2107= Synonymous 42/58 -
17-29663853-C-G NF1 c.6348C>G p.L2116= Synonymous 42/58 -
17-29676160-T-C NF1 c.7212T>C p.A2404= Synonymous 49/58 -
17-29676187-A-G NF1 c.7239A>G p.L2413= Synonymous 49/58 -
17-29676205-G-C NF1 c.7257G>C p.L2419= Synonymous 49/58 -
17-29676217-C-T NF1 c.7269C>T p.H2423= Synonymous 49/58 -
17-29676238-A-G NF1 c.7290A>G p.E2430= Synonymous 49/58 -
17-29687519-A-T NF1 c.8175A>T p.P2725= Synonymous 57/58 -
17-29687534-T-C NF1 c.8190T>C p.L2730= Synonymous 57/58 -
17-29687571-C-T NF1 c.8227C>T p.L2743= Synonymous 57/58 -
17-29687600-A-G NF1 c.8256A>G p.E2752= Synonymous 57/58 -
17-29687603-A-G NF1 c.8259A>G p.E2753= Synonymous 57/58 -
17-29687615-T-A NF1 c.8271T>A p.T2757= Synonymous 57/58 -
22-30069299-C-T NF2 c.1164C>T p.A388= Synonymous 12/16 -
22-30069308-C-A NF2 c.1173C>A p.T391= Synonymous 12/16 -
22-30069320-A-C NF2 c.1185A>C p.A395= Synonymous 12/16 -
22-30069323-A-G NF2 c.1188A>G p.K396= Synonymous 12/16 -
22-30069332-C-A NF2 c.1197C>A p.A399= Synonymous 12/16 -
22-30069335-G-A NF2 c.1200G>A p.Q400= Synonymous 12/16 -
22-30069341-C-T NF2 c.1206C>T p.A402= Synonymous 12/16 -
22-30069356-G-A NF2 c.1221G>A p.Q407= Synonymous 12/16 -
22-30069368-C-A NF2 c.1233C>A p.R411= Synonymous 12/16 -
22-30069380-A-G NF2 c.1245A>G p.T415= Synonymous 12/16 -
2-30142899-G-T ALK c.627C>A p.R209= Synonymous 1/29 -
2-30142902-A-G ALK c.624T>C p.I208= Synonymous 1/29 -
2-30142905-T-C ALK c.621A>G p.A207= Synonymous 1/29 -
17-37627910-G-A CDK12 c.1825G>A p.V609M Missense 2/14 -
17-37627928-G-A CDK12 c.1843G>A p.V615I Missense 2/14 -
17-37627948-C-T CDK12 c.1863C>T p.H621= Synonymous 2/14 -
17-37627954-A-G CDK12 c.1869A>G p.K623= Synonymous 2/14 -
17-37627963-G-A CDK12 c.1878G>A p.T626= Synonymous 2/14 -
17-37627973-T-C CDK12 c.1888T>C p.L630= Synonymous 2/14 -
17-37627984-A-T CDK12 c.1899A>T p.P633= Synonymous 2/14 -
17-37868601-T-C ERBB2 c.1048T>C p.L350= Synonymous 9/27 -
17-37868621-T-C ERBB2 c.1068T>C p.V356= Synonymous 9/27 -
17-37882831-T-C ERBB2 c.2889T>C p.S963= Synonymous 24/27 -
17-37882840-G-C ERBB2 c.2898G>C p.R966= Synonymous 24/27 -
17-37882843-A-G ERBB2 c.2901A>G p.P967= Synonymous 24/27 -
17-37882861-G-A ERBB2 c.2919G>A p.V973= Synonymous 24/27 -
17-37882864-T-A ERBB2 c.2922T>A p.S974= Synonymous 24/27 -
17-37882876-C-T ERBB2 c.2934C>T p.R978= Synonymous 24/27 -
17-37882882-C-A ERBB2 c.2940C>A p.A980= Synonymous 24/27 -
17-37883660-G-C ERBB2 c.3272G>C p.G1091A Missense 26/27 -
17-37883676-G-A ERBB2 c.3288G>A p.K1096= Synonymous 26/27 -
17-37883692-C-T ERBB2 c.3304C>T p.P1102S Missense 26/27 -
17-37883705-C-T ERBB2 c.3317C>T p.P1106L Missense 26/27 -
17-37883733-C-T ERBB2 c.3345C>T p.D1115= Synonymous 26/27 -
17-37883740-G-T ERBB2 c.3352G>T p.V1118L Missense 26/27 -
19-40741856-C-T AKT2 c.1116G>A p.T372= Synonymous 11/14 -
19-40741877-T-C AKT2 c.1095A>G p.E365= Synonymous 11/14 -
19-40741883-G-A AKT2 c.1089C>T p.L363= Synonymous 11/14 -
19-40741925-G-T AKT2 c.1047C>A p.P349= Synonymous 11/14 -
19-40741937-G-A AKT2 c.1035C>T p.C345= Synonymous 11/14 -
19-40741982-G-T AKT2 c.990C>A p.A330= Synonymous 11/14 -
19-40741985-C-T AKT2 c.987G>A p.R329= Synonymous 11/14 -
19-40741988-G-C AKT2 c.984C>G p.G328= Synonymous 11/14 -
19-40771133-C-T AKT2 c.42G>A p.K14= Synonymous 2/14 -
19-40771163-C-T AKT2 c.12G>A p.V4= Synonymous 2/14 -
19-4117501-T-C MAP2K2 c.219A>G p.E73= Synonymous 2/11 -
13-32953527-A-G BRCA2 c.8828A>G p.Q2943R Missense 22/27 -
13-32953541-A-T BRCA2 c.8842A>T p.I2948F Missense 22/27 -
13-32953553-A-C BRCA2 c.8854A>C p.M2952L Missense 22/27 -
13-32953561-T-C BRCA2 c.8862T>C p.S2954= Synonymous 22/27 -
13-32953571-A-G BRCA2 c.8872A>G p.K2958E Missense 22/27 -
13-32953579-A-G BRCA2 c.8880A>G p.Q2960= Synonymous 22/27 -
16-339448-G-C AXIN1 c.2454C>G p.G818= Synonymous 10/11 -
16-339454-T-C AXIN1 c.2448A>G p.K816= Synonymous 10/11 -
16-339460-C-T AXIN1 c.2442G>A p.L814= Synonymous 10/11 -
14-35871657-A-G NFKBIA c.849T>C p.S283= Synonymous 5/6 -
14-35871663-T-G NFKBIA c.843A>C p.P281= Synonymous 5/6 -
14-35871666-C-T NFKBIA c.840G>A p.L280= Synonymous 5/6 -
14-35871678-G-A NFKBIA c.828C>T p.N276= Synonymous 5/6 -
14-35871684-T-C NFKBIA c.822A>G p.L274= Synonymous 5/6 -
14-35871687-T-G NFKBIA c.819A>C p.T273= Synonymous 5/6 -
14-35871720-G-A NFKBIA c.786C>T p.S262= Synonymous 5/6 -
14-35871738-G-A NFKBIA c.768C>T p.L256= Synonymous 5/6 -
14-35871750-A-G NFKBIA c.756T>C p.S252= Synonymous 5/6 -
14-35871753-A-G NFKBIA c.753T>C p.Y251= Synonymous 5/6 -
17-37618336-A-C CDK12 c.12A>C p.S4= Synonymous 1/14 -
17-37627988-T-C CDK12 c.1903T>C p.L635= Synonymous 2/14 -
17-37649046-C-T CDK12 c.2151C>T p.S717= Synonymous 4/14 -
17-37649049-C-T CDK12 c.2154C>T p.D718= Synonymous 4/14 -
17-37649058-A-G CDK12 c.2163A>G p.K721= Synonymous 4/14 -
17-37657555-A-T CDK12 c.2472A>T p.L824= Synonymous 6/14 -
17-37682434-A-G CDK12 c.3625A>G p.I1209V Missense 13/14 -
17-37682436-A-G CDK12 c.3627A>G p.I1209M Missense 13/14 -
17-37682484-C-T CDK12 c.3675C>T p.G1225= Synonymous 13/14 -
17-37682501-A-C CDK12 c.3692A>C p.N1231T Missense 13/14 -
17-37682504-G-A CDK12 c.3695G>A p.S1232N Missense 13/14 -
17-37682514-C-T CDK12 c.3705C>T p.N1235= Synonymous 13/14 -
17-37686960-C-A CDK12 c.3864C>A p.S1288R Missense 14/14 -
17-37883752-T-C ERBB2 c.3364T>C p.S1122P Missense 26/27 -
16-396576-A-C AXIN1 c.450T>G p.L150= Synonymous 2/11 -
16-396579-A-G AXIN1 c.447T>C p.I149= Synonymous 2/11 -
16-396621-C-T AXIN1 c.405G>A p.E135= Synonymous 2/11 -
16-396627-G-A AXIN1 c.399C>T p.N133= Synonymous 2/11 -
16-396630-C-T AXIN1 c.396G>A p.S132= Synonymous 2/11 -
16-396645-C-A AXIN1 c.381G>T p.L127= Synonymous 2/11 -
16-396661-G-C AXIN1 c.365C>G p.T122S Missense 2/11 -
19-40740989-A-G AKT2 c.1329T>C p.F443= Synonymous 13/14 -
19-40740992-T-C AKT2 c.1326A>G p.E442= Synonymous 13/14 -
19-40740995-A-C AKT2 c.1323T>G p.D441E Missense 13/14 -
19-40741019-C-T AKT2 c.1299G>A p.E433= Synonymous 13/14 -
19-40741022-G-T AKT2 c.1296C>A p.S432= Synonymous 13/14 -
19-40741025-C-A AKT2 c.1293G>T p.T431= Synonymous 13/14 -
19-40741847-G-T AKT2 c.1125C>A p.P375= Synonymous 11/14 -
14-45636215-G-A FANCM c.1851G>A p.Q617= Synonymous 11/23 -
16-2130193-T-C TSC2 c.3425T>C p.L1142P Missense 30/42 -
2-39507479-T-G MAP4K3 c.1648A>C p.K550Q Missense 23/34 -
2-39535145-G-A MAP4K3 c.1058C>T p.P353L Missense 15/34 -
8-48765338-G-C PRKDC c.6900C>G p.Q2300= Synonymous 53/87 -
19-4117510-A-G MAP2K2 c.210T>C p.D70= Synonymous 2/11 -
19-4117522-T-C MAP2K2 c.198A>G p.E66= Synonymous 2/11 -
19-4117525-G-A MAP2K2 c.195C>T p.G65= Synonymous 2/11 -
19-4117534-G-A MAP2K2 c.186C>T p.A62= Synonymous 2/11 -
19-4117546-G-A MAP2K2 c.174C>T p.L58= Synonymous 2/11 -
19-4117549-A-G MAP2K2 c.171T>C p.F57= Synonymous 2/11 -
14-45636221-T-G FANCM c.1857T>G p.L619= Synonymous 11/23 -
19-4117555-T-C MAP2K2 c.165A>G p.E55= Synonymous 2/11 -
19-4117568-T-C MAP2K2 c.152A>G p.K51R Missense 2/11 -
19-4117570-C-T MAP2K2 c.150G>A p.Q50= Synonymous 2/11 -
19-4117579-G-A MAP2K2 c.141C>T p.D47= Synonymous 2/11 -
19-4117582-A-C MAP2K2 c.138T>G p.L46= Synonymous 2/11 -
19-4117585-T-G MAP2K2 c.135A>C p.E45D Missense 2/11 -
19-4117594-C-T MAP2K2 c.126G>A p.E42= Synonymous 2/11 -
14-45636184-G-A FANCM c.1820G>A p.S607N Missense 11/23 -
14-45636188-A-T FANCM c.1824A>T p.I608= Synonymous 11/23 -
14-45636197-T-C FANCM c.1833T>C p.A611= Synonymous 11/23 -
14-45636204-A-G FANCM c.1840A>G p.S614G Missense 11/23 -
14-45636212-G-A FANCM c.1848G>A p.R616= Synonymous 11/23 -
14-45636227-T-A FANCM c.1863T>A p.F621L Missense 11/23 -
14-45636234-A-G FANCM c.1870A>G p.R624G Missense 11/23 -
14-45636266-C-T FANCM c.1902C>T p.N634= Synonymous 11/23 -
19-45858015-C-T ERCC2 c.1638G>A p.E546= Synonymous 17/23 -
19-45858036-G-A ERCC2 c.1617C>T p.F539= Synonymous 17/23 -
19-45858048-G-A ERCC2 c.1605C>T p.I535= Synonymous 17/23 -
19-45858057-A-T ERCC2 c.1596T>A p.P532= Synonymous 17/23 -
19-45858066-A-G ERCC2 c.1587T>C p.A529= Synonymous 17/23 -
19-45858090-C-G ERCC2 c.1563G>C p.G521= Synonymous 17/23 -
12-46245214-G-A ARID2 c.3308G>A p.S1103N Missense 15/21 -
12-46245224-C-A ARID2 c.3318C>A p.A1106= Synonymous 15/21 -
12-46245227-A-T ARID2 c.3321A>T p.A1107= Synonymous 15/21 -
12-46245254-A-G ARID2 c.3348A>G p.P1116= Synonymous 15/21 -
17-47677815-A-T SPOP c.1050T>A p.A350= Synonymous 10/10 -
17-47677821-C-T SPOP c.1044G>A p.L348= Synonymous 10/10 -
2-48033716-A-G MSH6 c.3927A>G p.P1309= Synonymous 9/10 -
2-48033722-A-G MSH6 c.3933A>G p.E1311= Synonymous 9/10 -
2-48033731-A-G MSH6 c.3942A>G p.Q1314= Synonymous 9/10 -
2-48033740-T-C MSH6 c.3951T>C p.H1317= Synonymous 9/10 -
8-134125733-T-C TG c.7640T>C p.L2547P Missense 44/48 -
9-5054671-C-T JAK2 c.723C>T p.S241= Synonymous 7/25 -
9-5054677-C-T JAK2 c.729C>T p.C243= Synonymous 7/25 -
9-5054692-A-G JAK2 c.744A>G p.R248= Synonymous 7/25 -
9-5054696-T-C JAK2 c.748T>C p.L250= Synonymous 7/25 -
9-5054698-G-A JAK2 c.750G>A p.L250= Synonymous 7/25 -
9-5054719-T-C JAK2 c.771T>C p.N257= Synonymous 7/25 -
9-5054728-T-C JAK2 c.780T>C p.T260= Synonymous 7/25 -
9-5054755-A-G JAK2 c.807A>G p.K269= Synonymous 7/25 -
9-5054771-C-T JAK2 c.823C>T p.P275S Missense 7/25 -
2-30142914-C-T ALK c.612G>A p.L204= Synonymous 1/29 -
2-30142926-T-C ALK c.600A>G p.R200= Synonymous 1/29 -
2-30142941-C-T ALK c.585G>A p.A195= Synonymous 1/29 -
2-30142953-G-A ALK c.573C>T p.P191= Synonymous 1/29 -
2-30142974-T-C ALK c.552A>G p.R184= Synonymous 1/29 -
2-30142976-G-T ALK c.550C>A p.R184= Synonymous 1/29 -
11-32414216-A-G WT1 c.1335T>C p.H450= Synonymous 8/10 -
11-32414249-A-G WT1 c.1302T>C p.R439= Synonymous 8/10 -
11-32414267-A-G WT1 c.1284T>C p.C433= Synonymous 8/10 -
13-32953498-G-A BRCA2 c.8799G>A p.R2933= Synonymous 22/27 -
13-32953505-T-C BRCA2 c.8806T>C p.L2936= Synonymous 22/27 -
13-32953525-T-G BRCA2 c.8826T>G p.A2942= Synonymous 22/27 -
12-58145306-A-G CDK4 c.195T>C p.A65= Synonymous 2/8 -
9-5054775-G-C JAK2 c.827G>C p.G276A Missense 7/25 -
10-50708739-G-A ERCC6 c.1530C>T p.Y510= Synonymous 7/21 -
9-5077466-G-A JAK2 c.1878G>A p.Q626= Synonymous 15/25 -
9-5077490-A-G JAK2 c.1902A>G p.L634= Synonymous 15/25 -
9-5077499-T-C JAK2 c.1911T>C p.Y637= Synonymous 15/25 -
12-58145300-C-T CDK4 c.201G>A p.E67= Synonymous 2/8 -
12-46245298-C-A ARID2 c.3392C>A p.P1131Q Missense 15/21 -
12-46245315-T-G ARID2 c.3409T>G p.S1137A Missense 15/21 -
12-46245326-A-G ARID2 c.3420A>G p.V1140= Synonymous 15/21 -
12-46245362-A-G ARID2 c.3456A>G p.P1152= Synonymous 15/21 -
12-46245380-T-C ARID2 c.3474T>C p.N1158= Synonymous 15/21 -
2-47637304-T-C MSH2 c.438T>C p.G146= Synonymous 3/16 -
2-47637340-G-A MSH2 c.474G>A p.Q158= Synonymous 3/16 -
2-47637397-A-G MSH2 c.531A>G p.E177= Synonymous 3/16 -
2-47637403-T-C MSH2 c.537T>C p.P179= Synonymous 3/16 -
17-47677770-T-C SPOP c.1095A>G p.G365= Synonymous 10/10 -
17-47677776-A-G SPOP c.1089T>C p.F363= Synonymous 10/10 -
17-47677803-G-A SPOP c.1062C>T p.R354= Synonymous 10/10 -
17-47677812-C-T SPOP c.1053G>A p.E351= Synonymous 10/10 -
9-5077505-A-G JAK2 c.1917A>G p.K639= Synonymous 15/25 -
9-5077511-T-C JAK2 c.1923T>C p.N641= Synonymous 15/25 -
9-5077543-A-G JAK2 c.1955A>G p.E652G Missense 15/25 -
9-5077547-T-G JAK2 c.1959T>G p.V653= Synonymous 15/25 -
7-55273208-T-C EGFR c.3531T>C p.F1177= Synonymous 28/28 -
7-55273235-C-A EGFR c.3558C>A p.I1186= Synonymous 28/28 -
7-55273245-T-C EGFR c.3568T>C p.S1190P Missense 28/28 -
5-56160599-T-G MAP3K1 c.873T>G p.P291= Synonymous 4/20 -
5-56160620-A-G MAP3K1 c.894A>G p.P298= Synonymous 4/20 -
5-56160623-T-C MAP3K1 c.897T>C p.Y299= Synonymous 4/20 -
5-56160629-T-A MAP3K1 c.903T>A p.P301= Synonymous 4/20 -
5-56160635-A-G MAP3K1 c.909A>G p.E303= Synonymous 4/20 -
5-56160640-A-G MAP3K1 c.914A>G p.N305S Missense 4/20 -
5-56160647-T-C MAP3K1 c.921T>C p.R307= Synonymous 4/20 -
5-56160650-T-G MAP3K1 c.924T>G p.V308= Synonymous 4/20 -
5-56160663-C-A MAP3K1 c.937C>A p.R313= Synonymous 4/20 -
5-56160665-G-A MAP3K1 c.939G>A p.R313= Synonymous 4/20 -
5-56160671-A-G MAP3K1 c.945A>G p.R315= Synonymous 4/20 -
5-56160678-T-C MAP3K1 c.952T>C p.L318= Synonymous 4/20 -
5-56160680-A-G MAP3K1 c.954A>G p.L318= Synonymous 4/20 -
5-56177937-T-C MAP3K1 c.2910T>C p.S970= Synonymous 14/20 -
5-56177943-A-G MAP3K1 c.2916A>G p.L972= Synonymous 14/20 -
5-56177953-T-G MAP3K1 c.2926T>G p.S976A Missense 14/20 -
12-58145315-T-C CDK4 c.186A>G p.R62= Synonymous 2/8 -
5-56177955-C-T MAP3K1 c.2928C>T p.S976= Synonymous 14/20 -
5-56177967-T-C MAP3K1 c.2940T>C p.F980= Synonymous 14/20 -
5-56177980-A-G MAP3K1 c.2953A>G p.T985A Missense 14/20 -
5-56178486-T-C MAP3K1 c.3459T>C p.V1153= Synonymous 14/20 -
12-56478808-C-G ERBB3 c.264C>G p.L88= Synonymous 3/28 -
12-56478835-A-G ERBB3 c.291A>G p.L97= Synonymous 3/28 -
12-56478838-A-C ERBB3 c.294A>C p.P98= Synonymous 3/28 -
12-56478844-C-T ERBB3 c.300C>T p.P100= Synonymous 3/28 -
12-56478853-C-A ERBB3 c.309C>A p.R103= Synonymous 3/28 -
12-56478859-G-C ERBB3 c.315G>C p.V105= Synonymous 3/28 -
12-56478862-A-G ERBB3 c.318A>G p.R106= Synonymous 3/28 -
12-56478865-G-A ERBB3 c.321G>A p.G107= Synonymous 3/28 -
17-56774096-A-G RAD51C c.447A>G p.G149= Synonymous 3/9 -
17-56774099-A-C RAD51C c.450A>C p.G150= Synonymous 3/9 -
17-56774105-A-C RAD51C c.456A>C p.A152= Synonymous 3/9 -
17-56774117-T-A RAD51C c.468T>A p.V156= Synonymous 3/9 -
12-58145317-G-T CDK4 c.184C>A p.R62= Synonymous 2/8 -
12-58145327-A-G CDK4 c.174T>C p.A58= Synonymous 2/8 -
17-63554004-T-G AXIN2 c.735A>C p.P245= Synonymous 2/11 -
1-65332797-G-A JAK1 c.742C>T p.L248= Synonymous 7/25 -
1-65332822-C-T JAK1 c.717G>A p.R239= Synonymous 7/25 -
1-65332834-G-A JAK1 c.705C>T p.L235= Synonymous 7/25 -
15-66727413-T-C MAP2K1 c.129T>C p.D43= Synonymous 2/11 -
15-66727434-T-C MAP2K1 c.150T>C p.L50= Synonymous 2/11 -
15-66727446-T-G MAP2K1 c.162T>G p.L54= Synonymous 2/11 -
15-66727449-C-G MAP2K1 c.165C>G p.T55= Synonymous 2/11 -
15-66727467-A-G MAP2K1 c.183A>G p.G61= Synonymous 2/11 -
15-66727500-T-C MAP2K1 c.216T>C p.S72= Synonymous 2/11 -
15-66727509-G-A MAP2K1 c.225G>A p.G75= Synonymous 2/11 -
15-66727518-T-C MAP2K1 c.234T>C p.N78= Synonymous 2/11 -
15-66727521-C-T MAP2K1 c.237C>T p.G79= Synonymous 2/11 -
X-76813021-A-G ATRX c.6600T>C p.T2200= Synonymous 30/35 -
X-76813030-A-G ATRX c.6591T>C p.R2197= Synonymous 30/35 -
X-76813036-C-A ATRX c.6585G>T p.V2195= Synonymous 30/35 -
X-76813045-C-T ATRX c.6576G>A p.Q2192= Synonymous 30/35 -
X-76813051-A-C ATRX c.6570T>G p.V2190= Synonymous 30/35 -
X-76813057-T-G ATRX c.6564A>C p.R2188= Synonymous 30/35 -
X-76813060-A-G ATRX c.6561T>C p.F2187= Synonymous 30/35 -
X-76813078-A-T ATRX c.6543T>A p.T2181= Synonymous 30/35 -
X-76813084-T-C ATRX c.6537A>G p.Q2179= Synonymous 30/35 -
X-76813087-C-A ATRX c.6534G>T p.R2178= Synonymous 30/35 -
X-76875927-A-G ATRX c.5208T>C p.N1736= Synonymous 20/35 -
X-76875939-A-T ATRX c.5196T>A p.S1732= Synonymous 20/35 -
10-89692978-C-T PTEN c.462C>T p.F154= Synonymous 5/9 -
10-89717671-A-G PTEN c.696A>G p.T232= Synonymous 7/9 -
10-89717674-A-G PTEN c.699A>G p.R233= Synonymous 7/9 -
10-89717680-A-G PTEN c.705A>G p.E235= Synonymous 7/9 -
8-90970994-T-G NBN c.1083A>C p.T361= Synonymous 9/16 -
X-66942817-C-T AR c.2598C>T p.S866= Synonymous 7/8 -
15-66727524-T-A MAP2K1 c.240T>A p.G80= Synonymous 2/11 -
15-66727530-G-C MAP2K1 c.246G>C p.V82= Synonymous 2/11 -
15-89838254-A-G FANCI c.2565A>G p.E855= Synonymous 24/38 -
5-67593270-A-T PIK3R1 c.2016A>T p.I672= Synonymous 16/16 -
5-67593276-A-G PIK3R1 c.2022A>G p.K674= Synonymous 16/16 -
5-67593279-A-T PIK3R1 c.2025A>T p.T675= Synonymous 16/16 -
5-67593282-A-C PIK3R1 c.2028A>C p.A676= Synonymous 16/16 -
17-63554007-C-T AXIN2 c.732G>A p.S244= Synonymous 2/11 -
17-63554010-A-G AXIN2 c.729T>C p.L243= Synonymous 2/11 -
17-63554024-A-G AXIN2 c.715T>C p.F239L Missense 2/11 -
17-63554034-A-C AXIN2 c.705T>G p.T235= Synonymous 2/11 -
17-63554067-A-G AXIN2 c.672T>C p.Y224= Synonymous 2/11 -
17-63554076-C-T AXIN2 c.663G>A p.V221= Synonymous 2/11 -
17-63554078-C-A AXIN2 c.661G>T p.V221L Missense 2/11 -
17-63554094-G-C AXIN2 c.645C>G p.L215= Synonymous 2/11 -
5-67593285-T-C PIK3R1 c.2031T>C p.T677= Synonymous 16/16 -
5-67593309-T-C PIK3R1 c.2055T>C p.Y685= Synonymous 16/16 -
5-67593313-T-C PIK3R1 c.2059T>C p.L687= Synonymous 16/16 -
5-67593324-T-C PIK3R1 c.2070T>C p.S690= Synonymous 16/16 -
5-67593330-A-G PIK3R1 c.2076A>G p.K692= Synonymous 16/16 -
5-67593333-A-G PIK3R1 c.2079A>G p.E693= Synonymous 16/16 -
5-67593348-C-T PIK3R1 c.2094C>T p.Y698= Synonymous 16/16 -
14-68758624-A-G RAD51B c.780A>G p.T260= Synonymous 8/11 -
14-68758654-G-A RAD51B c.810G>A p.Q270= Synonymous 8/11 -
17-63554103-A-G AXIN2 c.636T>C p.N212= Synonymous 2/11 -
1-65332728-A-G JAK1 c.811T>C p.L271= Synonymous 7/25 -
1-65332771-A-G JAK1 c.768T>C p.I256= Synonymous 7/25 -
1-65332795-T-C JAK1 c.744A>G p.L248= Synonymous 7/25 -
8-90971000-G-A NBN c.1077C>T p.N359= Synonymous 9/16 -
15-89828331-A-G FANCI c.1703A>G p.H568R Missense 18/38 -
14-68301851-A-T RAD51B c.253A>T p.T85S Missense 4/11 -
8-90971009-G-A NBN c.1068C>T p.A356= Synonymous 9/16 -
8-90971018-C-G NBN c.1059G>C p.M353I Missense 9/16 -
8-90971023-G-T NBN c.1054C>A p.L352I Missense 9/16 -
8-90971041-C-G NBN c.1036G>C p.V346L Missense 9/16 -
8-90971043-C-A NBN c.1034G>T p.G345V Missense 9/16 -
8-90971048-T-G NBN c.1029A>C p.S343= Synonymous 9/16 -
1-65335150-T-G JAK1 c.491A>C p.Y164S Missense 6/25 -
7-116435774-C-T MET c.3864C>T p.N1288= Synonymous 20/21 -
17-29664486-T-C NF1 c.6528T>C p.I2176= Synonymous 43/58 -
8-48869982-G-T PRKDC c.164C>A p.T55K Missense 2/87 -
7-116435720-C-G MET c.3810C>G p.G1270= Synonymous 20/21 -
7-116435720-C-T MET c.3810C>T p.G1270= Synonymous 20/21 -
19-11141458-C-T SMARCA4 c.3435C>T p.P1145= Synonymous 25/35 -
2-212488744-C-T ERBB4 c.2105G>A p.G702D Missense 18/28 -
11-108236223-A-G ATM c.9159A>G p.K3053= Synonymous 63/63 -
X-14861858-T-C FANCB c.2411A>G p.D804G Missense 10/10 -
1-11291026-G-A MTOR c.2735C>T p.A912V Missense 18/58 -
3-178947078-T-C PIK3CA c.2514T>C p.C838= Synonymous 18/21 -
3-14200185-C-T XPC c.1198G>A p.E400K Missense 9/16 -
19-11151991-G-A SMARCA4 c.4179G>A p.E1393= Synonymous 30/35 -
2-47607027-C-T EPCAM c.777C>T p.F259= Synonymous 7/9 -
9-139399890-G-T NOTCH1 c.4458C>A p.P1486= Synonymous 25/34 -
3-142231163-C-T ATR c.4791G>A p.Q1597= Synonymous 27/47 -
14-45639835-A-G FANCM c.2046A>G p.E682= Synonymous 12/23 -
11-108213995-G-C ATM c.8315G>C p.G2772A Missense 57/63 -
17-33434444-C-T RAD51D c.286G>A p.G96S Missense 4/10 -
10-43602006-C-T RET c.1050C>T p.T350= Synonymous 5/20 -
4-55139774-C-A PDGFRA c.1435C>A p.R479= Synonymous 10/23 -
16-23647582-C-G PALB2 c.285G>C p.K95N Missense 4/13 -
3-10091071-C-A FANCD2 c.1427C>A p.A476D Missense 17/44 -
17-37619179-C-G CDK12 c.855C>G p.Y285* Nonsense 1/14 -
14-75508373-G-A MLH3 c.3410C>T p.S1137L Missense 4/13 -
5-112162922-C-G APC c.1526C>G p.T509S Missense 12/16 -
3-142268341-G-A ATR c.3151C>T p.R1051C Missense 15/47 -
15-91308562-G-T BLM c.2111G>T p.C704F Missense 9/22 -
12-121432202-G-C HNF1A c.949G>C p.V317L Missense 4/10 -
14-75515413-C-T MLH3 c.946G>A p.E316K Missense 2/13 -
12-46285645-T-G ARID2 c.5005T>G p.W1669G Missense 17/21 -
11-108115610-A-G ATM c.758A>G p.E253G Missense 7/63 -
14-68331780-A-T RAD51B c.376A>T p.T126S Missense 5/11 -
5-67569786-A-G PIK3R1 c.447A>G p.L149= Synonymous 4/16 -
15-40468826-G-A BUB1B c.533G>A p.G178E Missense 5/23 -
1-120462168-C-T NOTCH2 c.5548G>A p.D1850N Missense 31/34 -
17-29509659-G-A NF1 c.864G>A p.V288= Synonymous 8/58 -
17-29509668-A-G NF1 c.873A>G p.E291= Synonymous 8/58 -
17-29527479-C-A NF1 c.928C>A p.H310N Missense 9/58 -
9-139401795-G-A NOTCH1 c.3605C>T p.P1202L Missense 22/34 -
12-46246456-G-T ARID2 c.4550G>T p.R1517M Missense 15/21 -
15-40476073-G-T BUB1B c.740G>T p.G247V Missense 6/23 -
X-14882746-T-C FANCB c.887A>G p.N296S Missense 3/10 -
5-56161239-C-T MAP3K1 c.1108C>T p.P370S Missense 5/20 -
1-156845892-C-A NTRK1 c.1522C>A p.R508= Synonymous 13/17 -
1-120468070-G-C NOTCH2 c.4369C>G p.L1457V Missense 25/34 -
9-35074967-G-C FANCG c.1593C>G p.T531= Synonymous 12/14 -
13-32936807-G-A BRCA2 c.7953G>A p.R2651= Synonymous 17/27 -
5-56170938-A-G MAP3K1 c.1766A>G p.H589R Missense 10/20 -
16-89877427-G-C FANCA c.336C>G p.L112= Synonymous 4/43 -
9-5126758-A-G JAK2 c.3366A>G p.R1122= Synonymous 25/25 -
11-47256419-C-T DDB2 c.814C>T p.L272= Synonymous 6/10 -
17-37627404-C-G CDK12 c.1319C>G p.S440* Nonsense 2/14 -
8-128750584-G-T MYC c.121G>T p.D41Y Missense 2/3 -
7-148513778-G-A EZH2 c.1503C>T p.H501= Synonymous 12/20 -
13-103514011-T-C ERCC5 c.827T>C p.V276A Missense 7/15 -
3-142268463-G-A ATR c.3029C>T p.A1010V Missense 15/47 -
10-43608338-C-T RET c.1686C>T p.T562= Synonymous 9/20 -
2-48027161-C-G MSH6 c.2039C>G p.A680G Missense 4/10 -
16-89837005-A-G FANCA c.2189T>C p.L730P Missense 24/43 -
8-145740323-G-A RECQL4 c.1617C>T p.D539= Synonymous 9/22 -
4-55133783-C-T PDGFRA c.996C>T p.V332= Synonymous 7/23 -
3-14189426-A-G XPC c.2496T>C p.I832= Synonymous 14/16 -
8-30933722-A-G WRN c.758A>G p.Q253R Missense 8/35 -
3-178952084-CA-AT PIK3CA c.3139_3140delCAinsAT p.H1047I Missense 21/21 -
2-39552921-C-T MAP4K3 c.757G>A p.A253T Missense 11/34 -
2-39552668-A-G MAP4K3 c.909T>C p.D303= Synonymous 12/34 -
8-145741496-G-A RECQL4 c.1007C>T p.T336I Missense 5/22 -
17-37673802-T-G CDK12 c.2956T>G p.F986V Missense 10/14 -
15-40505618-A-G BUB1B c.2621A>G p.H874R Missense 20/23 -
15-91295128-C-T BLM c.911C>T p.S304F Missense 4/22 -
11-22646668-G-A FANCF c.689C>T p.P230L Missense 1/1 -
17-37673710-C-G CDK12 c.2864C>G p.P955R Missense 10/14 -
14-68331785-A-T RAD51B c.381A>T p.L127F Missense 5/11 -
13-103527659-A-G ERCC5 c.2967A>G p.T989= Synonymous 15/15 -
16-68844230-A-G CDH1 c.818A>G p.E273G Missense 6/16 -
9-5080673-G-T JAK2 c.2424G>T p.L808F Missense 18/25 -
3-41277866-C-T CTNNB1 c.1830C>T p.I610= Synonymous 12/15 -
2-47707958-A-T MSH2 c.2582A>T p.Q861L Missense 15/16 -
15-40477817-G-A BUB1B c.1032G>A p.V344= Synonymous 8/23 -
17-63533733-T-G AXIN2 c.1421A>C p.H474P Missense 6/11 -
14-45620612-T-C FANCM c.931T>C p.F311L Missense 5/23 -
8-145738093-C-A RECQL4 c.2817G>T p.A939A synonymous_variant 17/22 -
8-145738093-C-T RECQL4 c.2817G>A p.A939A synonymous_variant 17/22 -
8-145737071-G-A RECQL4 c.3495C>T p.H1165H synonymous_variant 21/22 -
13-32913818-T-G BRCA2 c.5326T>G p.L1776V Missense 11/27 -
3-41266962-T-C CTNNB1 c.633T>C p.A211= Synonymous 5/15 -
17-47688742-C-G SPOP c.558G>C p.L186= Synonymous 6/10 -
19-11100012-C-T SMARCA4 c.1138C>T p.H380Y Missense 7/35 -
16-2114406-G-C TSC2 c.1577G>C p.S526T Missense 15/42 -
10-50708618-A-T ERCC6 c.1651T>A p.Y551N Missense 7/21 -
4-1801123-G-A FGFR3 c.252G>A p.S84= Synonymous 3/18 -
1-45808117-G-A TOE1 c.554G>A p.R185Q Missense 6/8 -
17-37883556-T-C ERBB2 c.3168T>C p.G1056= Synonymous 26/27 -
4-55130079-G-A PDGFRA c.613G>A p.V205I Missense 4/23 -
2-47600630-C-T EPCAM c.105C>T p.A35= Synonymous 2/9 -
5-131973778-G-A RAD50 c.3481G>A p.E1161K Missense 23/25 -
17-37868248-A-G ERBB2 c.969A>G p.T323= Synonymous 8/27 -
7-116339241-A-G MET c.103A>G p.M35V Missense 2/21 -
9-35075065-A-C FANCG c.1495T>G p.C499G Missense 12/14 -
8-128752747-G-C MYC c.908G>C p.S303T Missense 3/3 -
1-27102160-T-C ARID1A c.5086T>C p.Y1696H Missense 19/20 -
5-131977924-T-C RAD50 c.3807T>C p.H1269= Synonymous 25/25 -
15-91295104-A-T BLM c.887A>T p.Y296F Missense 4/22 -
16-396366-G-A AXIN1 c.660C>T p.V220= Synonymous 2/11 -
X-76940472-A-G ATRX c.621T>C p.D207= Synonymous 8/35 -
8-30941233-A-G WRN c.1288A>G p.N430D Missense 10/35 -
9-139399390-G-A NOTCH1 c.4753C>T p.L1585= Synonymous 26/34 -
3-142257428-A-G ATR c.3621T>C p.C1207= Synonymous 19/47 -
19-4102446-G-A MAP2K2 c.456C>T p.G152= Synonymous 4/11 -
10-50667113-C-T ERCC6 c.4230G>A p.G1410= Synonymous 21/21 -
16-89881011-G-T FANCA c.200C>A p.P67Q Missense 3/43 -
13-103518626-T-C BIVM-ERCC5 c.3576T>C p.T1192= Synonymous 18/23 -
13-32906582-GT-TA BRCA2 c.967_968delGTinsTA p.V323* Nonsense 10/27 -
7-116419011-T-C MET c.3522T>C p.H1174= Synonymous 17/21 -
11-108165752-A-G ATM c.4875A>G p.K1625= Synonymous 32/63 -
16-68842703-G-A CDH1 c.639G>A p.W213* Nonsense 5/16 -
2-39536612-T-C MAP4K3 c.1046A>G p.H349R Missense 14/34 -
10-50724212-T-G PGBD3 c.949A>C p.N317H Missense 2/2 -
5-112173495-C-A APC c.2204C>A p.A735E Missense 16/16 -
16-89813261-T-A FANCA c.3386A>T p.D1129V Missense 34/43 -
5-80109432-C-T MSH3 c.2685C>T p.T895= Synonymous 20/24 -
16-2106236-G-A TSC2 c.639G>A p.V213= Synonymous 7/42 -
16-338146-G-A AXIN1 c.2565C>T p.I855= Synonymous 11/11 -
3-142212096-C-T ATR c.5956G>A p.E1986K Missense 35/47 -
10-50724538-A-C PGBD3 c.623T>G p.V208G Missense 2/2 -
2-48025880-A-G MSH6 c.758A>G p.D253G Missense 4/10 -
12-56494007-G-A ERBB3 c.3179G>A p.G1060D Missense 26/28 -
19-40741964-C-T AKT2 c.1008G>A p.L336= Synonymous 11/14 -
2-48026512-A-G MSH6 c.1390A>G p.I464V Missense 4/10 -
8-48774653-C-T PRKDC c.5954G>A p.R1985H Missense 45/87 -
8-30948354-T-C WRN c.1725T>C p.Y575= Synonymous 15/35 -
8-30948417-T-C WRN c.1788T>C p.S596= Synonymous 15/35 -
17-29556209-G-C NF1 c.2576G>C p.G859A Missense 21/58 -
14-68301854-A-T RAD51B c.256A>T p.T86S Missense 4/11 -
9-5066747-T-C JAK2 c.1284T>C p.S428= Synonymous 10/25 -
15-66774172-C-T MAP2K1 c.648C>T p.I216= Synonymous 6/11 -
10-123247547-G-A FGFR2 c.1944C>T p.A648= Synonymous 14/18 -
11-94179045-C-G MRE11 c.1798G>C p.E600Q Missense 16/20 -
17-63533771-G-A AXIN2 c.1383C>T p.S461= Synonymous 6/11 -
17-37687324-T-C CDK12 c.4228T>C p.L1410= Synonymous 14/14 -
1-11298631-G-A MTOR c.1830C>T p.F610= Synonymous 12/58 -
19-4102404-G-A MAP2K2 c.498C>T p.P166= Synonymous 4/11 -
9-35075743-T-A FANCG c.1152A>T p.P384= Synonymous 10/14 -
12-46231110-C-T ARID2 c.1030C>T p.L344= Synonymous 9/21 -
X-14863339-C-T FANCB c.1566G>A p.K522= Synonymous 8/10 -
1-156851260-C-T NTRK1 c.2217C>T p.C739= Synonymous 17/17 -
5-112173396-G-A APC c.2105G>A p.G702E Missense 16/16 -
9-135786902-G-C TSC1 c.967C>G p.P323A Missense 10/23 -
6-138200470-G-A TNFAIP3 c.1888G>A p.E630K Missense 7/9 -
9-139413938-G-A NOTCH1 c.822C>T p.D274= Synonymous 5/34 -
16-2112557-C-T TSC2 c.1317C>T p.D439= Synonymous 13/42 -
16-2134391-G-A TSC2 c.4168G>A p.E1390K Missense 34/42 -
6-35427194-C-T FANCE c.1200C>T p.S400= Synonymous 6/10 -
10-43604648-C-T RET c.1233C>T p.S411= Synonymous 6/20 -
19-45867268-C-T ERCC2 c.925G>A p.V309M Missense 10/23 -
12-46211656-G-A ARID2 c.622G>A p.G208R Missense 5/21 -
14-45658344-T-A FANCM c.5119T>A p.S1707T Missense 20/23 -
4-55139842-C-A PDGFRA c.1503C>A p.C501* Nonsense 10/23 -
17-63554706-C-T AXIN2 c.33G>A p.P11= Synonymous 2/11 -
17-63533593-G-A AXIN2 c.1561C>T p.H521Y Missense 6/11 -
16-68857411-G-A CDH1 c.2046G>A p.E682= Synonymous 13/16 -
16-347179-G-A AXIN1 c.1832C>T p.S611L Missense 7/11 -
2-29449798-G-T ALK c.3057C>A p.V1019= Synonymous 18/29 -
1-118166547-G-A TENT5C c.1057G>A p.V353I Missense 2/2 -
19-4095412-G-A MAP2K2 c.1020C>T p.P340= Synonymous 9/11 -
5-80109466-A-G MSH3 c.2719A>G p.K907E Missense 20/24 -
2-128046269-G-A ERCC3 c.994C>T p.R332C Missense 7/15 -
3-41266490-C-T CTNNB1 c.287C>T p.A96V Missense 4/15 -
12-46231301-C-T ARID2 c.1141C>T p.L381F Missense 10/21 -
10-50686429-T-C ERCC6 c.2257A>G p.S753G Missense 11/21 -
16-68845662-C-T CDH1 c.908C>T p.T303I Missense 7/16 -
15-89848415-T-C FANCI c.3128T>C p.V1043A Missense 29/38 -
11-108124716-C-T ATM c.2074C>T p.R692C Missense 13/63 -
3-142238594-C-T ATR c.4299G>A p.M1433I Missense 24/47 -
5-112176288-C-T APC c.4997C>T p.P1666L Missense 16/16 -
19-11152156-C-T SMARCA4 c.4344C>T p.A1448= Synonymous 30/35 -
9-100437779-T-C XPA c.764A>G p.D255G Missense 6/6 -
17-63533897-C-T AXIN2 c.1257G>A p.T419= Synonymous 6/11 -