Variant ID | Gene | cDNA | Protein | Consequence | Exon | Intron |
---|---|---|---|---|---|---|
5-112173917-C-T | APC | c.2626C>T | p.R876* | Nonsense | 16/16 | - |
11-108235935-C-T | ATM | c.8977C>T | p.R2993* | Nonsense | 62/63 | - |
2-47702269-C-T | MSH2 | c.1865C>T | p.P622L | Missense | 12/16 | - |
17-7577141-C-T | TP53 | c.797G>A | p.G266E | Missense | 8/11 | - |
17-7578463-C-T | TP53 | c.467G>A | p.R156H | Missense | 5/11 | - |
17-7578526-C-A | TP53 | c.404G>T | p.C135F | Missense | 5/11 | - |
5-112175426-G-T | APC | c.4135G>T | p.E1379* | Nonsense | 16/16 | - |
7-55241708-G-A | EGFR | c.2156G>A | p.G719D | Missense | 18/28 | - |
16-2121610-G-A | TSC2 | c.1939G>A | p.D647N | Missense | 18/42 | - |
9-135781005-G-C | TSC1 | c.1960C>G | p.Q654E | Missense | 15/23 | - |
16-2130243-C-T | TSC2 | c.3475C>T | p.R1159W | Missense | 30/42 | - |
5-112128191-C-T | APC | c.694C>T | p.R232* | Nonsense | 7/16 | - |
17-74733208-C-T | SRSF2 | c.35G>A | p.G12D | Missense | 1/3 | - |
5-112175639-C-T | APC | c.4348C>T | p.R1450* | Nonsense | 16/16 | - |
1-241671943-C-T | FH | c.698G>A | p.R233H | Missense | 5/10 | - |
3-178936095-A-G | PIK3CA | c.1637A>G | p.Q546R | Missense | 10/21 | - |
13-32914277-A-G | BRCA2 | c.5785A>G | p.I1929V | Missense | 11/27 | - |
X-100630190-C-T | BTK | c.83G>A | p.R28H | Missense | 2/19 | - |
19-1223123-T-C | STK11 | c.1060T>C | p.F354L | Missense | 8/10 | - |
19-1223125-C-A | STK11 | c.1062C>A | p.F354L | Missense | 8/10 | - |
19-1223125-C-G | STK11 | c.1062C>G | p.F354L | Missense | 8/10 | - |
7-55241678-A-C | EGFR | c.2126A>C | p.E709A | Missense | 18/28 | - |
8-90990521-T-C | NBN | c.511A>G | p.I171V | Missense | 5/16 | - |
17-7577550-C-T | TP53 | c.731G>A | p.G244D | Missense | 7/11 | - |
17-7578235-T-C | TP53 | c.614A>G | p.Y205C | Missense | 6/11 | - |
17-7578211-C-A | TP53 | c.638G>T | p.R213L | Missense | 6/11 | - |
9-21971029-C-T | CDKN2A | c.329G>A | p.W110* | Nonsense | 2/3 | - |
9-21971028-C-T | CDKN2A | c.330G>A | p.W110* | Nonsense | 2/3 | - |
17-7578508-C-T | TP53 | c.422G>A | p.C141Y | Missense | 5/11 | - |
13-49030440-C-T | RB1 | c.1915C>T | p.Q639* | Nonsense | 19/27 | - |
17-7577547-C-A | TP53 | c.734G>T | p.G245V | Missense | 7/11 | - |
17-7578275-G-A | TP53 | c.574C>T | p.Q192* | Nonsense | 6/11 | - |
9-135786868-G-A | TSC1 | c.1001C>T | p.S334L | Missense | 10/23 | - |
3-178952072-A-G | PIK3CA | c.3127A>G | p.M1043V | Missense | 21/21 | - |
10-89717672-C-T | PTEN | c.697C>T | p.R233* | Nonsense | 7/9 | - |
19-17949138-C-A | JAK3 | c.1503G>T | p.Q501H | Missense | 11/24 | - |
19-17949138-C-G | JAK3 | c.1503G>C | p.Q501H | Missense | 11/24 | - |
15-90631837-C-A | IDH2 | c.516G>T | p.R172S | Missense | 4/11 | - |
17-7578211-C-T | TP53 | c.638G>A | p.R213Q | Missense | 6/11 | - |
17-7577105-G-C | TP53 | c.833C>G | p.P278R | Missense | 8/11 | - |
5-112175925-C-G | APC | c.4634C>G | p.S1545* | Nonsense | 16/16 | - |
10-89692923-G-A | PTEN | c.407G>A | p.C136Y | Missense | 5/9 | - |
17-7578493-C-T | TP53 | c.437G>A | p.W146* | Nonsense | 5/11 | - |
17-7578492-C-T | TP53 | c.438G>A | p.W146* | Nonsense | 5/11 | - |
17-7574012-C-A | TP53 | c.1015G>T | p.E339* | Nonsense | 10/11 | - |
7-81358972-T-A | HGF | c.989A>T | p.D330V | Missense | 8/18 | - |
4-1801001-G-A | FGFR3 | c.130G>A | p.G44S | Missense | 3/18 | - |
11-69625348-C-T | FGF3 | c.445G>A | p.A149T | Missense | 3/3 | - |
11-69625389-C-T | FGF3 | c.404G>A | p.R135Q | Missense | 3/3 | - |
4-1803138-C-G | FGFR3 | c.490C>G | p.L164V | Missense | 5/18 | - |
4-1806182-C-A | FGFR3 | c.1201C>A | p.P401T | Missense | 9/18 | - |
10-8100733-C-A | GATA3 | c.707C>A | p.P236H | Missense | 3/6 | - |
10-8115837-G-A | GATA3 | c.1186G>A | p.A396T | Missense | 6/6 | - |
8-38285609-C-T | FGFR1 | c.451G>A | p.V151I | Missense | 5/18 | - |
4-1808053-G-A | FGFR3 | c.2029G>A | p.V677I | Missense | 15/18 | - |
17-7578500-G-A | TP53 | c.430C>T | p.Q144* | Nonsense | 5/11 | - |
15-66727451-A-C | MAP2K1 | c.167A>C | p.Q56P | Missense | 2/11 | - |
17-7578526-C-T | TP53 | c.404G>A | p.C135Y | Missense | 5/11 | - |
9-21971161-T-C | CDKN2A | c.197A>G | p.H66R | Missense | 2/3 | - |
18-48591919-G-A | SMAD4 | c.1082G>A | p.R361H | Missense | 9/12 | - |
17-7578404-A-T | TP53 | c.526T>A | p.C176S | Missense | 5/11 | - |
17-7578403-C-G | TP53 | c.527G>C | p.C176S | Missense | 5/11 | - |
17-7578268-A-C | TP53 | c.581T>G | p.L194R | Missense | 6/11 | - |
17-7577551-C-T | TP53 | c.730G>A | p.G244S | Missense | 7/11 | - |
17-7578271-T-A | TP53 | c.578A>T | p.H193L | Missense | 6/11 | - |
17-7577153-C-A | TP53 | c.785G>T | p.G262V | Missense | 8/11 | - |
17-41243899-A-G | BRCA1 | c.3649T>C | p.S1217P | Missense | 10/23 | - |
17-7579349-A-C | TP53 | c.338T>G | p.F113C | Missense | 4/11 | - |
2-198267489-T-C | SF3B1 | c.1868A>G | p.Y623C | Missense | 14/25 | - |
17-7577141-C-A | TP53 | c.797G>T | p.G266V | Missense | 8/11 | - |
16-68846047-A-G | CDH1 | c.1018A>G | p.T340A | Missense | 8/16 | - |
3-178938934-G-A | PIK3CA | c.2176G>A | p.E726K | Missense | 14/21 | - |
10-89692892-G-A | PTEN | c.376G>A | p.A126T | Missense | 5/9 | - |
10-43620387-C-T | RET | c.2996C>T | p.A999V | Missense | 18/20 | - |
15-90631837-C-G | IDH2 | c.516G>C | p.R172S | Missense | 4/11 | - |
3-41280704-G-C | CTNNB1 | c.2217G>C | p.M739I | Missense | 15/15 | - |
3-41280704-G-A | CTNNB1 | c.2217G>A | p.M739I | Missense | 15/15 | - |
3-41280704-G-T | CTNNB1 | c.2217G>T | p.M739I | Missense | 15/15 | - |
5-79950730-AGCG-A | MSH3 | c.184_186delGCG | p.A62del | InFrameDeletion | 1/24 | - |
18-48575159-C-T | SMAD4 | c.353C>T | p.A118V | Missense | 3/12 | - |
17-7579882-C-G | TP53 | c.31G>C | p.E11Q | Missense | 2/11 | - |
19-11097111-A-T | SMARCA4 | c.602A>T | p.Q201L | Missense | 4/35 | - |
3-178916924-C-T | PIK3CA | c.311C>T | p.P104L | Missense | 2/21 | - |
3-178928079-G-A | PIK3CA | c.1357G>A | p.E453K | Missense | 8/21 | - |
11-85956306-GA-AC | EED | c.35_36delGAinsAC | p.G12D | Missense | 1/12 | - |
17-7573992-A-C | TP53 | c.1035T>G | p.N345K | Missense | 10/11 | - |
17-7573992-A-T | TP53 | c.1035T>A | p.N345K | Missense | 10/11 | - |
6-152332868-G-A | ESR1 | c.1174G>A | p.V392I | Missense | 5/8 | - |
10-90773980-G-A | FAS | c.781G>A | p.E261K | Missense | 9/9 | - |
17-7578429-C-A | TP53 | c.501G>T | p.Q167H | Missense | 5/11 | - |
17-7578429-C-G | TP53 | c.501G>C | p.Q167H | Missense | 5/11 | - |
12-124821502-G-C | NCOR2 | c.5912C>G | p.S1971C | Missense | 40/49 | - |
16-68772218-C-T | CDH1 | c.67C>T | p.Q23* | Nonsense | 2/16 | - |
17-7578404-A-G | TP53 | c.526T>C | p.C176R | Missense | 5/11 | - |
4-55156541-G-A | PDGFRA | c.2942G>A | p.R981H | Missense | 22/23 | - |
5-56111633-T-C | MAP3K1 | c.233T>C | p.L78P | Missense | 1/20 | - |
16-68856122-G-A | CDH1 | c.1930G>A | p.D644N | Missense | 12/16 | - |
10-8106058-T-A | GATA3 | c.881T>A | p.M294K | Missense | 4/6 | - |
3-178916891-G-A | PIK3CA | c.278G>A | p.R93Q | Missense | 2/21 | - |
3-178916836-C-G | PIK3CA | c.223C>G | p.Q75E | Missense | 2/21 | - |
11-108205756-C-T | ATM | c.8071C>T | p.R2691C | Missense | 55/63 | - |
12-56482341-G-T | ERBB3 | c.889G>T | p.D297Y | Missense | 8/28 | - |
1-11184574-A-T | MTOR | c.6643T>A | p.S2215T | Missense | 47/58 | - |
17-7579355-A-G | TP53 | c.332T>C | p.L111P | Missense | 4/11 | - |
2-178098945-G-C | NFE2L2 | c.100C>G | p.R34G | Missense | 2/5 | - |
2-178098960-C-T | NFE2L2 | c.85G>A | p.D29N | Missense | 2/5 | - |
17-27448654-G-A | MYO18A | c.1282C>T | p.R428C | Missense | 5/42 | - |
17-47699360-C-T | SPOP | c.148G>A | p.E50K | Missense | 3/10 | - |
4-106190819-G-A | TET2 | c.4097G>A | p.R1366H | Missense | 9/11 | - |
17-7574017-C-A | TP53 | c.1010G>T | p.R337L | Missense | 10/11 | - |
17-7579313-G-T | TP53 | c.374C>A | p.T125K | Missense | 4/11 | - |
17-7578203-C-G | TP53 | c.646G>C | p.V216L | Missense | 6/11 | - |
17-7578203-C-A | TP53 | c.646G>T | p.V216L | Missense | 6/11 | - |
11-108200961-G-A | ATM | c.7328G>A | p.R2443Q | Missense | 50/63 | - |
9-98229479-T-C | PTCH1 | c.2479A>G | p.S827G | Missense | 15/24 | - |
17-29652944-A-G | NF1 | c.4942A>G | p.T1648A | Missense | 37/58 | - |
4-143129607-C-G | INPP4B | c.1043G>C | p.R348T | Missense | 14/26 | - |
9-139401020-C-T | NOTCH1 | c.3973G>A | p.A1325T | Missense | 24/34 | - |
16-56870627-A-C | NUP93 | c.1897A>C | p.K633Q | Missense | 17/22 | - |
17-29560209-A-G | NF1 | c.3686A>G | p.N1229S | Missense | 27/58 | - |
3-30715678-G-A | TGFBR2 | c.1336G>A | p.D446N | Missense | 5/7 | - |
9-80412493-C-T | GNAQ | c.548G>A | p.R183Q | Missense | 4/7 | - |
15-99465624-G-A | IGF1R | c.2449G>A | p.A817T | Missense | 11/21 | - |
5-112175925-C-A | APC | c.4634C>A | p.S1545* | Nonsense | 16/16 | - |
13-110436296-ACGG-A | IRS2 | c.2102_2104delCCG | p.A701del | InFrameDeletion | 1/2 | - |
22-24176339-G-A | SMARCB1 | c.1130G>A | p.R377H | Missense | 9/9 | - |
17-37866662-G-T | ERBB2 | c.829G>T | p.D277Y | Missense | 7/27 | - |
17-7576870-C-A | TP53 | c.976G>T | p.E326* | Nonsense | 9/11 | - |
17-56440943-G-A | RNF43 | c.394C>T | p.R132* | Nonsense | 4/10 | - |
8-90996758-G-A | NBN | c.32C>T | p.A11V | Missense | 1/16 | - |
11-108122697-T-G | ATM | c.1741T>G | p.L581V | Missense | 11/63 | - |
11-108206666-A-T | ATM | c.8246A>T | p.K2749I | Missense | 56/63 | - |
13-32914817-G-A | BRCA2 | c.6325G>A | p.V2109I | Missense | 11/27 | - |
16-23640966-C-T | PALB2 | c.2509G>A | p.E837K | Missense | 5/13 | - |
16-23646488-T-C | PALB2 | c.1379A>G | p.Q460R | Missense | 4/13 | - |
16-23647552-C-G | PALB2 | c.315G>C | p.E105D | Missense | 4/13 | - |
17-29508767-A-G | NF1 | c.694A>G | p.T232A | Missense | 7/58 | - |
22-29083943-C-T | CHEK2 | c.1574G>A | p.G525E | Missense | 15/15 | - |
22-29085152-A-T | CHEK2 | c.1513T>A | p.S505T | Missense | 14/15 | - |
22-29091762-C-T | CHEK2 | c.1195G>A | p.V399I | Missense | 11/15 | - |
17-7579492-TCT-ATG | TP53 | c.193_195delAGAinsCAT | p.R65H | Missense | 4/11 | - |
13-32913023-G-A | BRCA2 | c.4531G>A | p.E1511K | Missense | 11/27 | - |
5-112163677-A-T | APC | c.1600A>T | p.K534* | Nonsense | 13/16 | - |
22-41513712-C-T | EP300 | c.616C>T | p.Q206* | Nonsense | 2/31 | - |
1-11272529-G-A | MTOR | c.3401C>T | p.A1134V | Missense | 23/58 | - |
6-26056091-G-A | H1-2 | c.566C>T | p.A189V | Missense | 1/1 | - |
2-47637371-A-G | MSH2 | c.505A>G | p.I169V | Missense | 3/16 | - |
7-6026959-G-C | PMS2 | c.1437C>G | p.H479Q | Missense | 11/15 | - |
19-10602620-G-A | KEAP1 | c.958C>T | p.R320W | Missense | 3/6 | - |
17-7579533-G-A | TP53 | c.154C>T | p.Q52* | Nonsense | 4/11 | - |
19-11132428-G-A | SMARCA4 | c.2644G>A | p.E882K | Missense | 19/35 | - |
19-10600006-C-A | KEAP1 | c.1570G>T | p.G524C | Missense | 5/6 | - |
4-55604682-G-A | KIT | c.2890G>A | p.A964T | Missense | 21/21 | - |
3-38181371-G-C | MYD88 | c.384G>C | p.K115N | Missense | 2/5 | - |
16-3777826-T-C | CREBBP | c.7222A>G | p.M2408V | Missense | 31/31 | - |
19-52716327-G-T | PPP2R1A | c.771G>T | p.W257C | Missense | 6/15 | - |
17-41251882-CTG-C | BRCA1 | c.456_457delCA | p.S153Cfs*5 | Frameshift | 7/23 | - |
4-106197309-A-G | TET2 | c.5642A>G | p.H1881R | Missense | 11/11 | - |
17-76354771-A-G | SOCS3 | c.406T>C | p.F136L | Missense | 2/2 | - |
17-76354769-G-T | SOCS3 | c.408C>A | p.F136L | Missense | 2/2 | - |
17-76354769-G-C | SOCS3 | c.408C>G | p.F136L | Missense | 2/2 | - |
10-89711876-G-A | PTEN | c.494G>A | p.G165E | Missense | 6/9 | - |
17-37883246-C-T | ERBB2 | c.3149C>T | p.S1050L | Missense | 25/27 | - |
7-140624440-C-T | BRAF | c.64G>A | p.D22N | Missense | 1/18 | - |
7-128850838-G-A | SMO | c.1685G>A | p.R562Q | Missense | 10/12 | - |
7-140624415-C-T | BRAF | c.89G>A | p.G30D | Missense | 1/18 | - |
15-41797182-C-T | LTK | c.2006G>A | p.R669Q | Missense | 16/20 | - |
17-7578446-T-A | TP53 | c.484A>T | p.I162F | Missense | 5/11 | - |
10-89624301-G-T | PTEN | c.75G>T | p.L25F | Missense | 1/9 | - |
X-70339254-G-T | MED12 | c.131G>T | p.G44V | Missense | 2/45 | - |
17-29559899-G-A | NF1 | c.3496G>A | p.G1166S | Missense | 26/58 | - |
1-27106648-G-A | ARID1A | c.6259G>A | p.G2087R | Missense | 20/20 | - |
11-69465987-AGAG-A | CCND1 | c.839_841delAGG | p.E280del | InFrameDeletion | 5/5 | - |
X-123185066-C-G | STAG2 | c.1113C>G | p.F371L | Missense | 12/35 | - |
3-30713292-C-T | TGFBR2 | c.617C>T | p.T206M | Missense | 4/7 | - |
16-2121870-G-A | TSC2 | c.2032G>A | p.A678T | Missense | 19/42 | - |
16-2134317-C-T | TSC2 | c.4094C>T | p.S1365L | Missense | 34/42 | - |
19-52716327-G-C | PPP2R1A | c.771G>C | p.W257C | Missense | 6/15 | - |
12-115120971-C-A | TBX3 | c.35G>T | p.G12V | Missense | 1/7 | - |
16-89818581-G-A | FANCA | c.3031C>T | p.R1011C | Missense | 31/43 | - |
19-1207168-C-T | STK11 | c.256C>T | p.R86* | Nonsense | 1/10 | - |
12-56494996-G-A | ERBB3 | c.3353G>A | p.R1118Q | Missense | 27/28 | - |
19-4099225-G-A | MAP2K2 | c.893C>T | p.P298L | Missense | 7/11 | - |
9-21970971-G-T | CDKN2A | c.387C>A | p.Y129* | Nonsense | 2/3 | - |
9-21970971-G-C | CDKN2A | c.387C>G | p.Y129* | Nonsense | 2/3 | - |
5-112178256-A-G | APC | c.6965A>G | p.Q2322R | Missense | 16/16 | - |
4-106196381-C-T | TET2 | c.4714C>T | p.R1572W | Missense | 11/11 | - |
2-47630448-G-A | MSH2 | c.118G>A | p.G40S | Missense | 1/16 | - |
16-3781337-C-A | CREBBP | c.5028G>T | p.W1676C | Missense | 30/31 | - |
16-3781337-C-G | CREBBP | c.5028G>C | p.W1676C | Missense | 30/31 | - |
13-48955517-G-A | RB1 | c.1633G>A | p.E545K | Missense | 17/27 | - |
6-106554373-A-G | PRDM1 | c.1901A>G | p.Q634R | Missense | 6/7 | - |
15-88799324-C-A | NTRK3 | c.61G>T | p.V21F | Missense | 3/20 | - |
19-17945406-C-T | JAK3 | c.2324G>A | p.R775H | Missense | 17/24 | - |
17-37863309-G-A | ERBB2 | c.140G>A | p.R47H | Missense | 2/27 | - |
9-135779171-C-T | TSC1 | c.2075G>A | p.R692Q | Missense | 17/23 | - |
7-128850877-A-T | SMO | c.1724A>T | p.K575M | Missense | 10/12 | - |
12-56486584-G-A | ERBB3 | c.1163G>A | p.R388Q | Missense | 10/28 | - |
7-148524346-C-T | EZH2 | c.638G>A | p.R213H | Missense | 7/20 | - |
17-7579577-G-C | TP53 | c.110C>G | p.S37C | Missense | 4/11 | - |
16-89882989-C-T | FANCA | c.35G>A | p.G12D | Missense | 1/43 | - |
5-112155005-G-T | APC | c.1276G>T | p.A426S | Missense | 10/16 | - |
6-33289023-G-A | DAXX | c.529C>T | p.Q177* | Nonsense | 3/8 | - |
13-28592686-G-T | FLT3 | c.2459C>A | p.T820N | Missense | 20/24 | - |
17-59793364-G-A | BRIP1 | c.2440C>T | p.R814C | Missense | 17/20 | - |
4-55594068-G-C | KIT | c.1854G>C | p.M618I | Missense | 12/21 | - |
4-55594068-G-A | KIT | c.1854G>A | p.M618I | Missense | 12/21 | - |
4-55594068-G-T | KIT | c.1854G>T | p.M618I | Missense | 12/21 | - |
2-48026185-G-A | MSH6 | c.1063G>A | p.G355S | Missense | 4/10 | - |
19-15289953-G-A | NOTCH3 | c.3601C>T | p.R1201C | Missense | 22/33 | - |
19-3110194-A-G | GNA11 | c.184A>G | p.I62V | Missense | 2/7 | - |
9-139402516-T-C | NOTCH1 | c.3401A>G | p.Q1134R | Missense | 21/34 | - |
9-98209286-C-T | PTCH1 | c.4252G>A | p.V1418I | Missense | 23/24 | - |
9-97887391-C-T | FANCC | c.973G>A | p.A325T | Missense | 10/15 | - |
19-30313422-C-T | CCNE1 | c.1022C>T | p.T341M | Missense | 11/12 | - |
9-133759489-CAAG-C | ABL1 | c.1826_1828delAGA | p.K609del | InFrameDeletion | 11/11 | - |
17-56440710-C-T | RNF43 | c.508G>A | p.E170K | Missense | 5/10 | - |
17-56435581-C-T | RNF43 | c.1556G>A | p.R519Q | Missense | 9/10 | - |
15-41797609-C-T | LTK | c.1817G>A | p.R606Q | Missense | 14/20 | - |
9-139401847-C-T | NOTCH1 | c.3553G>A | p.D1185N | Missense | 22/34 | - |
5-138160400-A-G | CTNNA1 | c.770A>G | p.N257S | Missense | 6/18 | - |
3-41266093-C-A | CTNNB1 | c.90C>A | p.Y30* | Nonsense | 3/15 | - |
3-41266093-C-G | CTNNB1 | c.90C>G | p.Y30* | Nonsense | 3/15 | - |
3-169988291-T-C | PRKCI | c.533T>C | p.V178A | Missense | 6/18 | - |
17-37884145-C-T | ERBB2 | c.3616C>T | p.Q1206* | Nonsense | 27/27 | - |
10-43615038-G-A | RET | c.2452G>A | p.E818K | Missense | 14/20 | - |
5-112128186-G-A | APC | c.689G>A | p.R230H | Missense | 7/16 | - |
5-1294259-G-A | TERT | c.742C>T | p.R248W | Missense | 2/16 | - |
17-37884286-G-A | ERBB2 | c.3757G>A | p.V1253M | Missense | 27/27 | - |
16-68863597-G-A | CDH1 | c.2336G>A | p.R779Q | Missense | 15/16 | - |
17-56435312-G-A | RNF43 | c.1825C>T | p.R609W | Missense | 9/10 | - |
17-56435828-G-A | RNF43 | c.1309C>T | p.R437W | Missense | 9/10 | - |
19-35837089-C-T | CD22 | c.2363C>T | p.P788L | Missense | 13/14 | - |
3-185198315-G-A | MAP3K13 | c.2797G>A | p.E933K | Missense | 13/14 | - |
4-185309988-C-T | IRF2 | c.974G>A | p.R325Q | Missense | 9/9 | - |
9-98209631-G-A | PTCH1 | c.3907C>T | p.R1303C | Missense | 23/24 | - |
X-1584455-C-A | P2RY8 | c.997G>T | p.V333L | Missense | 2/2 | - |
18-60985394-A-G | BCL2 | c.506T>C | p.L169P | Missense | 2/3 | - |
5-1293871-C-T | TERT | c.1130G>A | p.R377H | Missense | 2/16 | - |
9-139417334-C-T | NOTCH1 | c.710G>A | p.G237D | Missense | 4/34 | - |
11-108200942-T-G | ATM | c.7309T>G | p.Y2437D | Missense | 50/63 | - |
11-118307385-C-T | KMT2A | c.158C>T | p.A53V | Missense | 1/36 | - |
13-32913179-T-A | BRCA2 | c.4687T>A | p.W1563R | Missense | 11/27 | - |
13-32913179-T-C | BRCA2 | c.4687T>C | p.W1563R | Missense | 11/27 | - |
9-139391403-C-T | NOTCH1 | c.6788G>A | p.R2263Q | Missense | 34/34 | - |
10-43596060-A-G | RET | c.227A>G | p.Y76C | Missense | 2/20 | - |
1-27092849-A-G | ARID1A | c.2870A>G | p.N957S | Missense | 9/20 | - |
2-48010485-C-T | MSH6 | c.113C>T | p.P38L | Missense | 1/10 | - |
19-15290180-G-A | NOTCH3 | c.3455C>T | p.T1152M | Missense | 21/33 | - |
17-7579463-G-C | TP53 | c.224C>G | p.P75R | Missense | 4/11 | - |
18-19751341-T-G | GATA6 | c.236T>G | p.L79R | Missense | 2/7 | - |
1-156846256-T-C | NTRK1 | c.1697T>C | p.M566T | Missense | 14/17 | - |
16-2100429-A-G | TSC2 | c.167A>G | p.N56S | Missense | 3/42 | - |
16-89838157-C-T | FANCA | c.2080G>A | p.D694N | Missense | 23/43 | - |
4-106156895-A-G | TET2 | c.1796A>G | p.Q599R | Missense | 3/11 | - |
19-15290031-G-A | NOTCH3 | c.3523C>T | p.R1175W | Missense | 22/33 | - |
19-15288391-C-T | NOTCH3 | c.4348G>A | p.A1450T | Missense | 24/33 | - |
5-80057400-TT-AG | MSH3 | c.1799_1800delTTinsAG | p.V600E | Missense | 13/24 | - |
3-187451339-G-A | BCL6 | c.143C>T | p.T48M | Missense | 3/10 | - |
19-15302951-G-A | NOTCH3 | c.499C>T | p.P167S | Missense | 4/33 | - |
12-15742508-C-T | PTPRO | c.3530C>T | p.S1177F | Missense | 25/27 | - |
18-48575185-T-A | SMAD4 | c.379T>A | p.C127S | Missense | 3/12 | - |
18-48575186-G-C | SMAD4 | c.380G>C | p.C127S | Missense | 3/12 | - |
19-3119007-G-A | GNA11 | c.691G>A | p.A231T | Missense | 5/7 | - |
19-11132542-G-A | SMARCA4 | c.2758G>A | p.E920K | Missense | 19/35 | - |
10-89624258-G-A | PTEN | c.32G>A | p.R11K | Missense | 1/9 | - |
18-48593465-G-A | SMAD4 | c.1216G>A | p.A406T | Missense | 10/12 | - |
10-89624301-G-C | PTEN | c.75G>C | p.L25F | Missense | 1/9 | - |
9-135772927-G-C | TSC1 | c.2696C>G | p.T899S | Missense | 21/23 | - |
3-37081690-G-T | MLH1 | c.1572G>T | p.M524I | Missense | 14/19 | - |
2-47630456-C-G | MSH2 | c.126C>G | p.F42L | Missense | 1/16 | - |
1-11314011-T-C | MTOR | c.725A>G | p.E242G | Missense | 6/58 | - |
6-94068000-G-T | EPHA7 | c.962C>A | p.S321Y | Missense | 4/17 | - |
3-49939857-G-A | MST1R | c.1186C>T | p.R396* | Nonsense | 1/20 | - |
1-156846336-C-T | NTRK1 | c.1777C>T | p.R593W | Missense | 14/17 | - |
X-70338683-C-G | MED12 | c.79C>G | p.Q27E | Missense | 1/45 | - |
15-88576178-C-T | NTRK3 | c.1495G>A | p.D499N | Missense | 14/20 | - |
1-117064599-G-C | CD58 | c.635C>G | p.S212* | Nonsense | 4/6 | - |
19-17943399-C-T | JAK3 | c.2609G>A | p.R870Q | Missense | 19/24 | - |
2-198266603-C-G | SF3B1 | c.2233G>C | p.A745P | Missense | 16/25 | - |
13-110436812-G-A | IRS2 | c.1589C>T | p.A530V | Missense | 1/2 | - |
16-14038684-G-A | ERCC4 | c.2009G>A | p.R670Q | Missense | 10/11 | - |
12-15733004-G-A | PTPRO | c.2952G>A | p.M984I | Missense | 21/27 | - |
16-2121823-C-T | TSC2 | c.1985C>T | p.P662L | Missense | 19/42 | - |
3-49940064-C-T | MST1R | c.979G>A | p.A327T | Missense | 1/20 | - |
3-138664861-CCCG-C | FOXL2 | c.701_703delCGG | p.A234del | InFrameDeletion | 1/1 | - |
12-4553321-C-T | FGF6 | c.428G>A | p.S143N | Missense | 2/3 | - |
16-89845355-C-T | FANCA | c.1772G>A | p.R591Q | Missense | 19/43 | - |
11-108200943-A-G | ATM | c.7310A>G | p.Y2437C | Missense | 50/63 | - |
11-69458721-G-A | CCND1 | c.536G>A | p.R179H | Missense | 3/5 | - |
1-150551802-G-A | MCL1 | c.205C>T | p.L69F | Missense | 1/3 | - |
17-33445587-C-T | RAD51D | c.196G>A | p.V66M | Missense | 3/10 | - |
12-133226471-G-A | POLE | c.3587C>T | p.T1196M | Missense | 30/49 | - |
4-55593461-G-C | KIT | c.1618G>C | p.V540L | Missense | 10/21 | - |
4-55593461-G-T | KIT | c.1618G>T | p.V540L | Missense | 10/21 | - |
1-16261134-C-T | SPEN | c.8399C>T | p.A2800V | Missense | 11/15 | - |
5-80109478-T-G | MSH3 | c.2731T>G | p.L911V | Missense | 20/24 | - |
7-151848636-C-T | KMT2C | c.12557G>A | p.G4186D | Missense | 50/59 | - |
3-185184675-A-G | MAP3K13 | c.1567A>G | p.I523V | Missense | 10/14 | - |
3-49934990-A-C | MST1R | c.2009T>G | p.V670G | Missense | 6/20 | - |
12-1040408-C-T | RAD52 | c.164G>A | p.R55H | Missense | 3/12 | - |
9-87285874-A-G | NTRK2 | c.211A>G | p.I71V | Missense | 2/19 | - |
5-138456837-T-C | SIL1 | c.131A>G | p.E44G | Missense | 3/10 | - |
1-11204730-C-T | MTOR | c.4847G>A | p.R1616H | Missense | 34/58 | - |
2-212495220-C-A | ERBB4 | c.2046G>T | p.K682N | Missense | 17/28 | - |
5-138456832-T-G | SIL1 | c.136A>C | p.S46R | Missense | 3/10 | - |
21-39763593-G-A | ERG | c.859C>T | p.R287C | Missense | 8/10 | - |
3-176752052-T-C | TBL1XR1 | c.1184A>G | p.Y395C | Missense | 13/16 | - |
7-142651353-C-T | KEL | c.842G>A | p.R281Q | Missense | 8/19 | - |
19-35837547-G-A | CD22 | c.2491G>A | p.G831R | Missense | 14/14 | - |
17-41244882-G-C | BRCA1 | c.2666C>G | p.S889C | Missense | 10/23 | - |
3-178916921-AACC-A | PIK3CA | c.310_312delCCA | p.P104del | InFrameDeletion | 2/21 | - |
19-35837104-C-T | CD22 | c.2378C>T | p.T793M | Missense | 13/14 | - |
11-118344086-AG-CA | KMT2A | c.2212_2213delAGinsCA | p.R738Q | Missense | 3/36 | - |
7-55228010-A-G | EGFR | c.1477A>G | p.N493D | Missense | 12/28 | - |
5-112174394-C-T | APC | c.3103C>T | p.Q1035* | Nonsense | 16/16 | - |
7-55223588-G-A | EGFR | c.955G>A | p.E319K | Missense | 8/28 | - |
16-2127694-G-A | TSC2 | c.2933G>A | p.R978H | Missense | 26/42 | - |
16-89858883-C-A | FANCA | c.1079G>T | p.R360L | Missense | 12/43 | - |
19-15278141-G-A | NOTCH3 | c.5281C>T | p.R1761C | Missense | 29/33 | - |
7-2966388-C-T | CARD11 | c.1792G>A | p.A598T | Missense | 14/25 | - |
X-47430769-G-C | ARAF | c.1734G>C | p.E578D | Missense | 16/16 | - |
9-135772928-T-A | TSC1 | c.2695A>T | p.T899S | Missense | 21/23 | - |
13-102375238-TG-CA | FGF14 | c.686_687delCAinsTG | p.T229M | Missense | 5/5 | - |
15-41796726-G-A | LTK | c.2233C>T | p.P745S | Missense | 18/20 | - |
15-41800366-A-G | LTK | c.1150T>C | p.C384R | Missense | 9/20 | - |
17-40375561-G-A | STAT5B | c.389C>T | p.A130V | Missense | 5/19 | - |
16-89836366-T-C | FANCA | c.2383A>G | p.R795G | Missense | 26/43 | - |
16-89849320-T-C | FANCA | c.1573A>G | p.I525V | Missense | 17/43 | - |
17-7578243-AC-TT | TP53 | c.605_606delGTinsAA | p.R202Q | Missense | 6/11 | - |
9-35077023-G-A | FANCG | c.722C>T | p.P241L | Missense | 6/14 | - |
16-707789-C-T | WDR90 | c.2501C>T | p.A834V | Missense | 21/41 | - |
1-120466387-G-A | NOTCH2 | c.4732C>T | p.R1578C | Missense | 26/34 | - |
17-29652932-G-T | NF1 | c.4930G>T | p.D1644Y | Missense | 37/58 | - |
X-53222632-C-T | KDM5C | c.4304G>A | p.R1435H | Missense | 25/26 | - |
3-178936076-C-A | PIK3CA | c.1618C>A | p.L540I | Missense | 10/21 | - |
10-129905807-C-T | MKI67 | c.4297G>A | p.A1433T | Missense | 13/15 | - |
4-55570043-A-G | KIT | c.910A>G | p.T304A | Missense | 5/21 | - |
9-139399426-T-C | NOTCH1 | c.4717A>G | p.T1573A | Missense | 26/34 | - |
13-28880851-C-A | FLT1 | c.3779G>T | p.W1260L | Missense | 29/30 | - |
19-15271870-G-A | NOTCH3 | c.6569C>T | p.A2190V | Missense | 33/33 | - |
19-15288700-C-G | NOTCH3 | c.4039G>C | p.G1347R | Missense | 24/33 | - |
13-48947580-A-T | RB1 | c.1167A>T | p.L389F | Missense | 12/27 | - |
13-48947580-A-C | RB1 | c.1167A>C | p.L389F | Missense | 12/27 | - |
22-41513455-G-A | EP300 | c.359G>A | p.S120N | Missense | 2/31 | - |
2-48030601-G-T | MSH6 | c.3215G>T | p.G1072V | Missense | 5/10 | - |
1-120459050-T-C | NOTCH2 | c.6295A>G | p.M2099V | Missense | 34/34 | - |
19-10599994-G-A | KEAP1 | c.1582C>T | p.Q528* | Nonsense | 5/6 | - |
20-30946591-CAGA-C | ASXL1 | c.25_27delAAG | p.K9del | InFrameDeletion | 1/13 | - |
3-89259247-C-A | EPHA3 | c.391C>A | p.H131N | Missense | 3/17 | - |
9-98231289-C-T | PTCH1 | c.1994G>A | p.R665H | Missense | 14/24 | - |
6-138202227-A-C | TNFAIP3 | c.2144A>C | p.K715T | Missense | 9/9 | - |
2-25457177-G-C | DNMT3A | c.2710C>G | p.P904A | Missense | 23/23 | - |
19-30313454-G-A | CCNE1 | c.1054G>A | p.V352I | Missense | 11/12 | - |
17-8111076-C-T | AURKB | c.131G>A | p.R44H | Missense | 3/9 | - |
X-70356751-G-A | MED12 | c.5423G>A | p.R1808Q | Missense | 38/45 | - |
17-56435027-G-C | RNF43 | c.2110C>G | p.P704A | Missense | 9/10 | - |
13-48955571-T-A | RB1 | c.1687T>A | p.W563R | Missense | 17/27 | - |
19-35828735-G-A | CD22 | c.796G>A | p.E266K | Missense | 5/14 | - |
19-11123673-G-A | SMARCA4 | c.2323G>A | p.G775S | Missense | 16/35 | - |
8-81899679-C-T | PAG1 | c.200G>A | p.S67N | Missense | 6/9 | - |
12-498194-A-C | KDM5A | c.64T>G | p.F22V | Missense | 1/28 | - |
18-42643239-G-A | SETBP1 | c.4367G>A | p.R1456H | Missense | 6/6 | - |
1-47048941-C-T | MKNK1 | c.95G>A | p.R20Q | Missense | 3/13 | - |
7-55240731-G-C | EGFR | c.1975G>C | p.V659L | Missense | 17/28 | - |
5-149509521-C-T | PDGFRB | c.1378G>A | p.E460K | Missense | 10/23 | - |
8-37693193-G-A | ADGRA2 | c.1955G>A | p.R652H | Missense | 13/19 | - |
2-178096219-A-G | NFE2L2 | c.1112T>C | p.L371P | Missense | 5/5 | - |
7-148529838-G-A | EZH2 | c.251C>T | p.S84L | Missense | 4/20 | - |
5-112177778-A-C | APC | c.6487A>C | p.K2163Q | Missense | 16/16 | - |
12-133219485-T-C | POLE | c.4649A>G | p.K1550R | Missense | 36/49 | - |
9-139391634-C-A | NOTCH1 | c.6557G>T | p.G2186V | Missense | 34/34 | - |
3-37091983-G-C | MLH1 | c.2110G>C | p.V704L | Missense | 19/19 | - |
2-48027348-C-G | MSH6 | c.2226C>G | p.N742K | Missense | 4/10 | - |
1-117064599-G-T | CD58 | c.635C>A | p.S212* | Nonsense | 4/6 | - |
11-108151839-T-C | ATM | c.3520T>C | p.F1174L | Missense | 24/63 | - |
11-108151841-T-A | ATM | c.3522T>A | p.F1174L | Missense | 24/63 | - |
11-108151841-T-G | ATM | c.3522T>G | p.F1174L | Missense | 24/63 | - |
13-26974623-C-T | CDK8 | c.967C>T | p.R323* | Nonsense | 10/13 | - |
3-37081690-G-C | MLH1 | c.1572G>C | p.M524I | Missense | 14/19 | - |
3-37081690-G-A | MLH1 | c.1572G>A | p.M524I | Missense | 14/19 | - |
X-47430769-G-T | ARAF | c.1734G>T | p.E578D | Missense | 16/16 | - |
18-56338916-C-A | MALT1 | c.41C>A | p.S14* | Nonsense | 1/17 | - |
11-66618333-C-T | PC | c.2285G>A | p.R762H | Missense | 18/23 | - |
3-37055939-G-C | MLH1 | c.694G>C | p.G232R | Missense | 9/19 | - |
15-88690584-G-A | NTRK3 | c.446C>T | p.T149M | Missense | 6/20 | - |
15-41797215-C-G | LTK | c.1973G>C | p.R658P | Missense | 16/20 | - |
1-16257878-A-G | SPEN | c.5143A>G | p.M1715V | Missense | 11/15 | - |
17-37872814-C-T | ERBB2 | c.1693C>T | p.P565S | Missense | 14/27 | - |
10-43607652-G-A | RET | c.1628G>A | p.W543* | Nonsense | 8/20 | - |
3-185191362-C-T | MAP3K13 | c.2243C>T | p.A748V | Missense | 11/14 | - |
11-69457998-G-T | CCND1 | c.398G>T | p.R133L | Missense | 2/5 | - |
1-16255191-C-T | SPEN | c.2456C>T | p.T819I | Missense | 11/15 | - |
1-43804313-T-C | MPL | c.313T>C | p.F105L | Missense | 3/12 | - |
5-176665275-G-A | NSD1 | c.3959G>A | p.R1320Q | Missense | 7/23 | - |
19-4099312-G-A | MAP2K2 | c.806C>T | p.P269L | Missense | 7/11 | - |
3-134851763-G-A | EPHB1 | c.1169G>A | p.R390H | Missense | 5/16 | - |
3-134670754-G-A | EPHB1 | c.665G>A | p.R222Q | Missense | 3/16 | - |
6-152419956-G-A | ESR1 | c.1643G>A | p.R548H | Missense | 8/8 | - |
3-185191179-C-T | MAP3K13 | c.2060C>T | p.A687V | Missense | 11/14 | - |
22-21304066-G-A | CRKL | c.845G>A | p.R282H | Missense | 3/3 | - |
16-23637666-G-A | PALB2 | c.2639C>T | p.A880V | Missense | 7/13 | - |
1-27106793-T-A | ARID1A | c.6404T>A | p.I2135N | Missense | 20/20 | - |
2-112786409-G-A | MERTK | c.2968G>A | p.D990N | Missense | 19/19 | - |
13-48955571-T-C | RB1 | c.1687T>C | p.W563R | Missense | 17/27 | - |
11-85967439-A-G | EED | c.437A>G | p.N146S | Missense | 5/12 | - |
16-89857933-G-A | FANCA | c.1237C>T | p.R413C | Missense | 14/43 | - |
9-97897738-G-A | FANCC | c.733C>T | p.R245W | Missense | 8/15 | - |
9-35078268-C-T | FANCG | c.380G>A | p.R127H | Missense | 4/14 | - |
12-416173-T-C | KDM5A | c.4013A>G | p.Y1338C | Missense | 24/28 | - |
7-142651320-C-T | KEL | c.875G>A | p.R292Q | Missense | 8/19 | - |
1-27101620-G-T | ARID1A | c.4902G>T | p.M1634I | Missense | 18/20 | - |
7-151945109-G-C | KMT2C | c.2410C>G | p.L804V | Missense | 14/59 | - |
5-121761048-C-T | SNCAIP | c.1004C>T | p.P335L | Missense | 5/11 | - |
17-17131231-G-A | FLCN | c.221C>T | p.P74L | Missense | 4/14 | - |
3-47163212-C-T | SETD2 | c.2914G>A | p.E972K | Missense | 3/21 | - |
5-38945616-A-C | RICTOR | c.4610T>G | p.L1537R | Missense | 34/38 | - |
1-206666645-G-A | IKBKE | c.1979G>A | p.G660E | Missense | 20/22 | - |
16-3823801-G-T | CREBBP | c.2414C>A | p.A805E | Missense | 13/31 | - |
7-86415592-C-T | GRM3 | c.484C>T | p.R162W | Missense | 3/6 | - |
1-16261121-C-G | SPEN | c.8386C>G | p.R2796G | Missense | 11/15 | - |
1-16261767-G-A | SPEN | c.9032G>A | p.R3011Q | Missense | 11/15 | - |
1-16262090-TCTC-T | SPEN | c.9359_9361delCTC | p.P3120del | InFrameDeletion | 11/15 | - |
22-46712183-G-A | GTSE1 | c.1306G>A | p.A436T | Missense | 7/12 | - |
18-12794327-C-A | PTPN2 | c.1198G>T | p.V400F | Missense | 9/9 | - |
9-139407526-G-A | NOTCH1 | c.2414C>T | p.T805M | Missense | 15/34 | - |
1-120462974-C-T | NOTCH2 | c.5357G>A | p.R1786Q | Missense | 30/34 | - |
1-120458363-A-G | NOTCH2 | c.6982T>C | p.C2328R | Missense | 34/34 | - |
1-78414965-T-C | FUBP1 | c.1801A>G | p.T601A | Missense | 19/20 | - |
20-36012629-C-T | SRC | c.73C>T | p.H25Y | Missense | 4/14 | - |
12-15650262-G-A | PTPRO | c.433G>A | p.E145K | Missense | 3/27 | - |
19-2210668-C-A | DOT1L | c.1165C>A | p.P389T | Missense | 14/28 | - |
5-1266601-T-C | TERT | c.2632A>G | p.T878A | Missense | 10/16 | - |
20-52198651-T-A | ZNF217 | c.715A>T | p.T239S | Missense | 2/6 | - |
6-26056290-C-T | H1-2 | c.367G>A | p.A123T | Missense | 1/1 | - |
17-56774055-A-T | RAD51C | c.406A>T | p.M136L | Missense | 3/9 | - |
3-52637638-T-C | PBRM1 | c.2678A>G | p.Y893C | Missense | 18/30 | - |
16-705658-C-T | WDR90 | c.1804C>T | p.R602W | Missense | 16/41 | - |
17-37872775-A-T | ERBB2 | c.1654A>T | p.R552W | Missense | 14/27 | - |
4-1920021-A-C | NSD2 | c.1081A>C | p.K361Q | Missense | 5/22 | - |
6-152265380-G-T | ESR1 | c.833G>T | p.G278V | Missense | 4/8 | - |
19-15299082-C-T | NOTCH3 | c.1456G>A | p.D486N | Missense | 9/33 | - |
3-142232369-C-T | ATR | c.4615G>A | p.G1539S | Missense | 26/47 | - |
17-17117123-T-C | FLCN | c.1586A>G | p.K529R | Missense | 14/14 | - |
7-151878302-A-T | KMT2C | c.6643T>A | p.S2215T | Missense | 36/59 | - |
12-56495471-G-C | ERBB3 | c.3661G>C | p.G1221R | Missense | 28/28 | - |
13-110434769-G-A | IRS2 | c.3632C>T | p.P1211L | Missense | 1/2 | - |
11-118307445-G-A | KMT2A | c.218G>A | p.G73E | Missense | 1/36 | - |
4-143350329-G-A | INPP4B | c.133C>T | p.L45F | Missense | 5/26 | - |
19-6586077-C-T | CD70 | c.536G>A | p.R179Q | Missense | 3/3 | - |
1-27057945-C-A | ARID1A | c.1653C>A | p.Y551* | Nonsense | 3/20 | - |
1-27057945-C-G | ARID1A | c.1653C>G | p.Y551* | Nonsense | 3/20 | - |
1-59248552-G-A | JUN | c.191C>T | p.P64L | Missense | 1/1 | - |
1-206647732-G-T | IKBKE | c.146G>T | p.R49L | Missense | 4/22 | - |
3-47059214-C-T | SETD2 | c.7447G>A | p.V2483I | Missense | 20/21 | - |
7-55220340-C-T | EGFR | c.730C>T | p.R244W | Missense | 6/28 | - |
X-100615085-T-C | BTK | c.830A>G | p.E277G | Missense | 9/19 | - |
14-20824081-T-C | PARP2 | c.992T>C | p.I331T | Missense | 11/16 | - |
7-6026959-G-T | PMS2 | c.1437C>A | p.H479Q | Missense | 11/15 | - |
16-68835690-C-T | CDH1 | c.281C>T | p.P94L | Missense | 3/16 | - |
13-48955569-C-T | RB1 | c.1685C>T | p.A562V | Missense | 17/27 | - |
7-86416108-G-T | GRM3 | c.1000G>T | p.D334Y | Missense | 3/6 | - |
11-108099969-G-A | ATM | c.250G>A | p.A84T | Missense | 4/63 | - |
9-21974768-G-A | CDKN2A | c.59C>T | p.A20V | Missense | 1/3 | - |
3-181430855-C-T | SOX2 | c.707C>T | p.A236V | Missense | 1/1 | - |
22-29095890-C-T | CHEK2 | c.944G>A | p.G315E | Missense | 9/15 | - |
7-2959246-C-A | CARD11 | c.2270G>T | p.G757V | Missense | 18/25 | - |
3-89391019-T-C | EPHA3 | c.1085T>C | p.I362T | Missense | 5/17 | - |
16-89862407-G-A | FANCA | c.913C>T | p.H305Y | Missense | 11/43 | - |
5-112151201-A-G | APC | c.844A>G | p.T282A | Missense | 9/16 | - |
7-142649621-C-T | KEL | c.1178G>A | p.R393Q | Missense | 10/19 | - |
7-142638449-G-A | KEL | c.2089C>T | p.P697S | Missense | 19/19 | - |
X-123196788-G-A | STAG2 | c.1675G>A | p.D559N | Missense | 18/35 | - |
6-15501528-A-G | JARID2 | c.2336A>G | p.Q779R | Missense | 8/18 | - |
19-11101967-G-A | SMARCA4 | c.1387G>A | p.E463K | Missense | 8/35 | - |
19-11098408-G-T | SMARCA4 | c.926G>T | p.G309V | Missense | 6/35 | - |
19-11097230-GGGT-G | SMARCA4 | c.721_723delGGT | p.G241del | InFrameDeletion | 4/35 | - |
3-178943756-G-A | PIK3CA | c.2423G>A | p.R808Q | Missense | 17/21 | - |
15-41805872-TC-GT | LTK | c.35_36delGAinsAC | p.G12D | Missense | 1/20 | - |
9-135777071-A-T | TSC1 | c.2407T>A | p.C803S | Missense | 19/23 | - |
9-135777070-C-G | TSC1 | c.2408G>C | p.C803S | Missense | 19/23 | - |
3-41266218-A-G | CTNNB1 | c.215A>G | p.Q72R | Missense | 3/15 | - |
6-138196029-G-A | TNFAIP3 | c.343G>A | p.V115I | Missense | 3/9 | - |
19-15288700-C-T | NOTCH3 | c.4039G>A | p.G1347R | Missense | 24/33 | - |
7-140454002-C-A | BRAF | c.1726G>T | p.D576Y | Missense | 14/18 | - |
11-119146712-T-G | CBL | c.875T>G | p.I292S | Missense | 6/16 | - |
16-56871605-G-A | NUP93 | c.1985G>A | p.R662K | Missense | 18/22 | - |
17-59885949-G-A | BRIP1 | c.797C>T | p.T266M | Missense | 7/20 | - |
17-37871592-A-G | ERBB2 | c.1202A>G | p.E401G | Missense | 10/27 | - |
11-118374553-C-T | KMT2A | c.7946C>T | p.P2649L | Missense | 27/36 | - |
4-55565926-C-A | KIT | c.750C>A | p.N250K | Missense | 4/21 | - |
4-106157663-C-T | TET2 | c.2564C>T | p.A855V | Missense | 3/11 | - |
17-78867528-C-T | RPTOR | c.2264C>T | p.S755F | Missense | 20/34 | - |
3-156421304-A-G | TIPARP | c.1339A>G | p.N447D | Missense | 5/6 | - |
3-52668700-G-C | PBRM1 | c.1219C>G | p.P407A | Missense | 12/30 | - |
19-35837547-G-C | CD22 | c.2491G>C | p.G831R | Missense | 14/14 | - |
2-47630454-T-C | MSH2 | c.124T>C | p.F42L | Missense | 1/16 | - |
2-47630456-C-A | MSH2 | c.126C>A | p.F42L | Missense | 1/16 | - |
2-47635569-A-T | MSH2 | c.241A>T | p.S81C | Missense | 2/16 | - |
9-87636209-C-T | NTRK2 | c.2374C>T | p.R792C | Missense | 19/19 | - |
4-106156439-G-A | TET2 | c.1340G>A | p.R447K | Missense | 3/11 | - |
1-43803784-G-A | MPL | c.94G>A | p.A32T | Missense | 2/12 | - |
16-68842438-G-T | CDH1 | c.499G>T | p.E167* | Nonsense | 4/16 | - |
2-141607707-T-C | LRP1B | c.4903A>G | p.I1635V | Missense | 29/91 | - |
6-161990392-C-T | PRKN | c.928G>A | p.E310K | Missense | 8/12 | - |
X-63413009-T-G | AMER1 | c.158A>C | p.K53T | Missense | 2/2 | - |
15-88727493-C-T | NTRK3 | c.286G>A | p.A96T | Missense | 4/20 | - |
9-35075987-G-A | FANCG | c.1115C>T | p.A372V | Missense | 9/14 | - |
12-124821565-G-A | NCOR2 | c.5849C>T | p.A1950V | Missense | 40/49 | - |
3-134967255-G-A | EPHB1 | c.2594G>A | p.R865Q | Missense | 14/16 | - |
16-89816229-C-G | FANCA | c.3148G>C | p.E1050Q | Missense | 32/43 | - |
22-41572372-C-T | EP300 | c.4901C>T | p.A1634V | Missense | 30/31 | - |
1-16256360-C-T | SPEN | c.3625C>T | p.H1209Y | Missense | 11/15 | - |
17-62007614-C-T | CD79B | c.250G>A | p.E84K | Missense | 3/6 | - |
5-176518092-T-C | FGFR4 | c.590T>C | p.I197T | Missense | 5/18 | - |
15-41797956-G-C | LTK | c.1652C>G | p.S551W | Missense | 13/20 | - |
1-16258464-C-T | SPEN | c.5729C>T | p.T1910I | Missense | 11/15 | - |
5-176520297-G-C | FGFR4 | c.1216G>C | p.V406L | Missense | 9/18 | - |
5-176520297-G-T | FGFR4 | c.1216G>T | p.V406L | Missense | 9/18 | - |
2-225400312-G-A | CUL3 | c.311C>T | p.T104M | Missense | 3/16 | - |
8-90993724-T-C | NBN | c.199A>G | p.T67A | Missense | 3/16 | - |
17-29560176-AAGG-A | NF1 | c.3656_3658delGAG | p.G1219del | InFrameDeletion | 27/58 | - |
7-151849790-C-G | KMT2C | c.12526G>C | p.G4176R | Missense | 49/59 | - |
6-33287880-GCCT-G | DAXX | c.1370_1372delAGG | p.E457del | InFrameDeletion | 5/8 | - |
1-16257248-G-A | SPEN | c.4513G>A | p.E1505K | Missense | 11/15 | - |
17-41243739-C-A | BRCA1 | c.3809G>T | p.C1270F | Missense | 10/23 | - |
13-32929239-C-G | BRCA2 | c.7249C>G | p.H2417D | Missense | 14/27 | - |
11-118307397-C-G | KMT2A | c.170C>G | p.P57R | Missense | 1/36 | - |
9-5080613-G-T | JAK2 | c.2364G>T | p.M788I | Missense | 18/25 | - |
3-30691893-C-T | TGFBR2 | c.395C>T | p.T132I | Missense | 3/7 | - |
3-52597382-C-T | PBRM1 | c.3928G>A | p.E1310K | Missense | 25/30 | - |
19-2226889-TCCG-T | DOT1L | c.4372_4374delGCC | p.A1458del | InFrameDeletion | 27/28 | - |
1-120461055-G-A | NOTCH2 | c.5903C>T | p.A1968V | Missense | 32/34 | - |
3-178919315-T-G | PIK3CA | c.800T>G | p.L267R | Missense | 4/21 | - |
7-81372779-T-C | HGF | c.755A>G | p.D252G | Missense | 7/18 | - |
12-402260-C-A | KDM5A | c.4531G>T | p.E1511* | Nonsense | 27/28 | - |
19-50918808-A-G | POLD1 | c.2678A>G | p.D893G | Missense | 21/27 | - |
2-211507258-C-T | CPS1 | c.3010C>T | p.R1004C | Missense | 25/38 | - |
20-36012798-C-T | SRC | c.242C>T | p.P81L | Missense | 4/14 | - |
7-128850837-C-T | SMO | c.1684C>T | p.R562W | Missense | 10/12 | - |
1-120056982-G-A | HSD3B1 | c.836G>A | p.R279H | Missense | 4/4 | - |
1-43804315-T-A | MPL | c.315T>A | p.F105L | Missense | 3/12 | - |
1-43804315-T-G | MPL | c.315T>G | p.F105L | Missense | 3/12 | - |
3-37055939-G-A | MLH1 | c.694G>A | p.G232R | Missense | 9/19 | - |
9-80409480-C-G | GNAQ | c.634G>C | p.E212Q | Missense | 5/7 | - |
13-110435786-G-A | IRS2 | c.2615C>T | p.P872L | Missense | 1/2 | - |
13-110434977-C-A | IRS2 | c.3424G>T | p.G1142W | Missense | 1/2 | - |
11-32456675-C-T | WT1 | c.217G>A | p.V78M | Missense | 1/10 | - |
3-49936563-C-T | MST1R | c.1364G>A | p.R455H | Missense | 2/20 | - |
20-52198650-G-C | ZNF217 | c.716C>G | p.T239S | Missense | 2/6 | - |
3-41266649-C-A | CTNNB1 | c.446C>A | p.A149D | Missense | 4/15 | - |
8-90996754-TC-GT | NBN | c.35_36delGAinsAC | p.G12D | Missense | 1/16 | - |
17-29556305-T-A | NF1 | c.2672T>A | p.V891D | Missense | 21/58 | - |
5-38947407-T-C | RICTOR | c.4273A>G | p.I1425V | Missense | 32/38 | - |
3-185798875-G-A | ETV5 | c.322C>T | p.L108F | Missense | 6/13 | - |
5-80169100-C-T | MSH3 | c.3296C>T | p.T1099M | Missense | 23/24 | - |
19-2226698-G-A | DOT1L | c.4178G>A | p.G1393D | Missense | 27/28 | - |
X-63412367-G-T | AMER1 | c.800C>A | p.S267* | Nonsense | 2/2 | - |
X-63412367-G-C | AMER1 | c.800C>G | p.S267* | Nonsense | 2/2 | - |
5-224566-CT-AA | SDHA | c.242_243delCTinsAA | p.S81* | Nonsense | 3/15 | - |
9-97873824-T-C | FANCC | c.1250A>G | p.E417G | Missense | 13/15 | - |
15-99454621-C-T | IGF1R | c.1540C>T | p.P514S | Missense | 7/21 | - |
11-108198477-C-A | ATM | c.7081C>A | p.L2361I | Missense | 48/63 | - |
8-37554951-A-G | ZNF703 | c.532A>G | p.T178A | Missense | 2/2 | - |
1-27101657-G-T | ARID1A | c.4939G>T | p.E1647* | Nonsense | 18/20 | - |
12-406314-T-A | KDM5A | c.4127A>T | p.D1376V | Missense | 25/28 | - |
5-112163645-A-G | APC | c.1568A>G | p.K523R | Missense | 13/16 | - |
5-176517474-C-G | FGFR4 | c.175C>G | p.R59G | Missense | 3/18 | - |
5-112179711-C-A | APC | c.8420C>A | p.T2807N | Missense | 16/16 | - |
10-8100276-G-A | GATA3 | c.250G>A | p.V84M | Missense | 3/6 | - |
7-140534534-T-C | BRAF | c.379A>G | p.S127G | Missense | 3/18 | - |
22-21272309-G-T | CRKL | c.87G>T | p.Q29H | Missense | 1/3 | - |
22-21272309-G-C | CRKL | c.87G>C | p.Q29H | Missense | 1/3 | - |
13-49033950-G-C | RB1 | c.2087G>C | p.R696T | Missense | 20/27 | - |
4-106196289-A-G | TET2 | c.4622A>G | p.Q1541R | Missense | 11/11 | - |
6-36652111-T-C | CDKN1A | c.233T>C | p.L78P | Missense | 2/3 | - |
9-35077320-G-A | FANCG | c.587C>T | p.T196I | Missense | 5/14 | - |
3-12650287-A-T | RAF1 | c.559T>A | p.W187R | Missense | 5/17 | - |
3-12650287-A-G | RAF1 | c.559T>C | p.W187R | Missense | 5/17 | - |
19-50905900-T-C | POLD1 | c.872T>C | p.L291P | Missense | 8/27 | - |
12-1025872-G-A | RAD52 | c.658C>T | p.Q220* | Nonsense | 8/12 | - |
20-36028647-C-T | SRC | c.989C>T | p.A330V | Missense | 10/14 | - |
9-27218777-G-T | TEK | c.3065G>T | p.W1022L | Missense | 20/23 | - |
5-138456830-G-C | SIL1 | c.138C>G | p.S46R | Missense | 3/10 | - |
5-138456830-G-T | SIL1 | c.138C>A | p.S46R | Missense | 3/10 | - |
2-198267420-G-A | SF3B1 | c.1937C>T | p.P646L | Missense | 14/25 | - |
1-120056858-A-T | HSD3B1 | c.712A>T | p.R238W | Missense | 4/4 | - |
9-5465525-TGAA-T | CD274 | c.709_711delGAA | p.E237del | InFrameDeletion | 5/7 | - |
2-198281620-G-A | SF3B1 | c.511C>T | p.Q171* | Nonsense | 6/25 | - |
15-88476325-A-G | NTRK3 | c.1807T>C | p.F603L | Missense | 16/20 | - |
15-88476323-G-T | NTRK3 | c.1809C>A | p.F603L | Missense | 16/20 | - |
15-88476323-G-C | NTRK3 | c.1809C>G | p.F603L | Missense | 16/20 | - |
17-37687444-G-T | CDK12 | c.4348G>T | p.A1450S | Missense | 14/14 | - |
12-498206-C-T | KDM5A | c.52G>A | p.E18K | Missense | 1/28 | - |
X-1584455-C-G | P2RY8 | c.997G>C | p.V333L | Missense | 2/2 | - |
16-2106760-C-A | TSC2 | c.764C>A | p.P255H | Missense | 8/42 | - |
5-80063818-A-G | MSH3 | c.1963A>G | p.I655V | Missense | 14/24 | - |
15-88420244-CCG-ACA | NTRK3 | c.2440_2442delCGGinsTGT | p.R814C | Missense | 20/20 | - |
11-85956316-G-C | EED | c.45G>C | p.M15I | Missense | 1/12 | - |
11-85956316-G-A | EED | c.45G>A | p.M15I | Missense | 1/12 | - |
11-85956316-G-T | EED | c.45G>T | p.M15I | Missense | 1/12 | - |
8-38194876-C-T | NSD3 | c.857G>A | p.C286Y | Missense | 4/24 | - |
1-16259651-CAGT-C | SPEN | c.6916_6918delAGT | p.S2306del | InFrameDeletion | 11/15 | - |
19-52723450-G-C | PPP2R1A | c.1311G>C | p.E437D | Missense | 11/15 | - |
19-52723450-G-T | PPP2R1A | c.1311G>T | p.E437D | Missense | 11/15 | - |
1-156837978-C-A | NTRK1 | c.511C>A | p.P171T | Missense | 5/17 | - |
15-41796971-C-T | LTK | c.2120G>A | p.W707* | Nonsense | 17/20 | - |
15-41796838-C-T | LTK | c.2121G>A | p.W707* | Nonsense | 18/20 | - |
17-37618765-A-G | CDK12 | c.441A>G | p.I147M | Missense | 1/14 | - |
8-117868948-C-T | RAD21 | c.751G>A | p.A251T | Missense | 7/14 | - |
5-80150034-A-G | MSH3 | c.2899A>G | p.T967A | Missense | 21/24 | - |
19-15300105-C-T | NOTCH3 | c.1171G>A | p.D391N | Missense | 7/33 | - |
12-15733004-G-C | PTPRO | c.2952G>C | p.M984I | Missense | 21/27 | - |
12-15733004-G-T | PTPRO | c.2952G>T | p.M984I | Missense | 21/27 | - |
19-33793136-A-T | CEBPA | c.185T>A | p.I62N | Missense | 1/1 | - |
20-62337717-A-T | ARFRP1 | c.256T>A | p.W86R | Missense | 4/8 | - |
20-62337717-A-G | ARFRP1 | c.256T>C | p.W86R | Missense | 4/8 | - |
3-89391014-C-G | EPHA3 | c.1080C>G | p.N360K | Missense | 5/17 | - |
3-89391014-C-A | EPHA3 | c.1080C>A | p.N360K | Missense | 5/17 | - |
13-29008070-T-A | FLT1 | c.699A>T | p.Q233H | Missense | 6/30 | - |
13-29008070-T-G | FLT1 | c.699A>C | p.Q233H | Missense | 6/30 | - |
19-2216575-C-T | DOT1L | c.2219C>T | p.A740V | Missense | 20/28 | - |
11-118352739-C-T | KMT2A | c.3944C>T | p.P1315L | Missense | 7/36 | - |
11-69514061-T-C | FGF19 | c.620A>G | p.E207G | Missense | 3/3 | - |
8-38205209-T-C | NSD3 | c.481A>G | p.I161V | Missense | 2/24 | - |
16-67063635-G-C | CBFB | c.84G>C | p.K28N | Missense | 2/6 | - |
16-67063635-G-T | CBFB | c.84G>T | p.K28N | Missense | 2/6 | - |
13-73335808-ACG-CCA | DIS3 | c.2485_2487delCGTinsTGG | p.R829W | Missense | 18/21 | - |
13-110434706-G-A | IRS2 | c.3695C>T | p.P1232L | Missense | 1/2 | - |
19-15311676-GGGC-G | NOTCH3 | c.38_40delGCC | p.R13del | InFrameDeletion | 1/33 | - |
7-128850878-G-C | SMO | c.1725G>C | p.K575N | Missense | 10/12 | - |
7-128850878-G-T | SMO | c.1725G>T | p.K575N | Missense | 10/12 | - |
12-115120864-G-C | TBX3 | c.142C>G | p.P48A | Missense | 1/7 | - |
17-29556883-G-A | NF1 | c.2881G>A | p.V961I | Missense | 22/58 | - |
3-49940085-C-T | MST1R | c.958G>A | p.V320M | Missense | 1/20 | - |
7-142641475-G-T | KEL | c.1426C>A | p.Q476K | Missense | 13/19 | - |
19-2227037-G-A | DOT1L | c.4517G>A | p.G1506D | Missense | 27/28 | - |
8-38189052-C-G | NSD3 | c.962G>C | p.W321S | Missense | 5/24 | - |
5-79970879-CT-TC | MSH3 | c.1105_1106delCTinsTC | p.L369S | Missense | 7/24 | - |
17-70120361-G-C | SOX9 | c.1363G>C | p.A455P | Missense | 3/3 | - |
17-37865632-T-G | ERBB2 | c.501T>G | p.I167M | Missense | 4/27 | - |
5-79950739-AGCG-A | MSH3 | c.193_195delGCG | p.A65del | InFrameDeletion | 1/24 | - |
10-89717708-C-G | PTEN | c.733C>G | p.Q245E | Missense | 7/9 | - |
7-6441986-G-A | RAC1 | c.488G>A | p.R163Q | Missense | 6/6 | - |
7-116418928-C-G | MET | c.3439C>G | p.L1147V | Missense | 17/21 | - |
7-86394612-AGGC-A | GRM3 | c.151_153delGGC | p.G51del | InFrameDeletion | 2/6 | - |
4-55976587-A-G | KDR | c.1238T>C | p.V413A | Missense | 9/30 | - |
14-68352659-A-G | RAD51B | c.526A>G | p.K176E | Missense | 6/11 | - |
8-37554861-G-T | ZNF703 | c.442G>T | p.A148S | Missense | 2/2 | - |
17-70119875-G-C | SOX9 | c.877G>C | p.E293Q | Missense | 3/3 | - |
9-35079492-GG-TT | FANCG | c.29_30delCCinsAA | p.S10* | Nonsense | 1/14 | - |
9-93629438-C-T | SYK | c.872C>T | p.S291L | Missense | 7/14 | - |
1-36937740-G-A | CSF3R | c.998C>T | p.A333V | Missense | 9/17 | - |
19-33792612-G-A | CEBPA | c.709C>T | p.P237S | Missense | 1/1 | - |
2-61709543-G-A | XPO1 | c.2944C>T | p.L982F | Missense | 23/25 | - |
11-118343954-A-T | KMT2A | c.2080A>T | p.S694C | Missense | 3/36 | - |
22-41531906-C-G | EP300 | c.1618C>G | p.Q540E | Missense | 7/31 | - |
9-93607735-C-T | SYK | c.437C>T | p.A146V | Missense | 3/14 | - |
2-212495220-C-G | ERBB4 | c.2046G>C | p.K682N | Missense | 17/28 | - |
4-1807141-CC-AG | FGFR3 | c.1472_1473delCCinsAG | p.A491E | Missense | 11/18 | - |
8-90955554-C-T | NBN | c.2111G>A | p.G704E | Missense | 14/16 | - |
8-38178666-C-T | NSD3 | c.1733G>A | p.R578K | Missense | 8/24 | - |
16-23647552-C-A | PALB2 | c.315G>T | p.E105D | Missense | 4/13 | - |
17-17120409-C-T | FLCN | c.1150G>A | p.V384I | Missense | 10/14 | - |
17-37883977-C-T | ERBB2 | c.3448C>T | p.P1150S | Missense | 27/27 | - |
3-37091983-G-T | MLH1 | c.2110G>T | p.V704L | Missense | 19/19 | - |
10-8097792-C-G | GATA3 | c.174C>G | p.N58K | Missense | 2/6 | - |
10-8097792-C-A | GATA3 | c.174C>A | p.N58K | Missense | 2/6 | - |
22-24167528-CGGG-C | SMARCB1 | c.914_916delGGG | p.G305del | InFrameDeletion | 7/9 | - |
1-156838351-A-G | NTRK1 | c.629A>G | p.D210G | Missense | 6/17 | - |
19-4090616-G-A | MAP2K2 | c.1183C>T | p.P395S | Missense | 11/11 | - |
19-50909495-C-G | POLD1 | c.1299C>G | p.D433E | Missense | 11/27 | - |
19-50909495-C-A | POLD1 | c.1299C>A | p.D433E | Missense | 11/27 | - |
15-99250976-G-C | IGF1R | c.280G>C | p.E94Q | Missense | 2/21 | - |
9-22006035-CG-TA | CDKN2B | c.367_368delCGinsTA | p.R123* | Nonsense | 2/2 | - |
1-241665853-G-T | FH | c.1126C>A | p.Q376K | Missense | 8/10 | - |
9-135801066-A-T | TSC1 | c.271T>A | p.S91T | Missense | 5/23 | - |
4-143130129-A-C | INPP4B | c.887T>G | p.L296R | Missense | 13/26 | - |
15-99478175-G-A | IGF1R | c.3079G>A | p.E1027K | Missense | 16/21 | - |
8-117866632-CT-TG | RAD21 | c.1012_1013delAGinsCA | p.R338Q | Missense | 9/14 | - |
12-133209367-C-T | POLE | c.6019G>A | p.V2007M | Missense | 44/49 | - |
12-1036416-T-C | RAD52 | c.362A>G | p.H121R | Missense | 6/12 | - |
1-11190652-A-C | MTOR | c.5547T>G | p.S1849R | Missense | 39/58 | - |
1-11190652-A-T | MTOR | c.5547T>A | p.S1849R | Missense | 39/58 | - |
1-11190654-T-G | MTOR | c.5545A>C | p.S1849R | Missense | 39/58 | - |
9-135778046-G-C | TSC1 | c.2337C>G | p.I779M | Missense | 18/23 | - |
1-120480579-G-C | NOTCH2 | c.3238C>G | p.Q1080E | Missense | 20/34 | - |
7-2968325-G-C | CARD11 | c.1661C>G | p.P554R | Missense | 13/25 | - |
3-52713622-T-A | PBRM1 | c.106A>T | p.R36W | Missense | 2/30 | - |
5-228318-A-C | SDHA | c.640A>C | p.S214R | Missense | 6/15 | - |
2-225339057-G-C | CUL3 | c.2212C>G | p.P738A | Missense | 16/16 | - |
19-17943694-G-A | JAK3 | c.2395C>T | p.R799C | Missense | 18/24 | - |
5-138362548-C-A | SIL1 | c.587G>T | p.S196I | Missense | 6/10 | - |
12-15656910-G-T | PTPRO | c.1174G>T | p.G392W | Missense | 6/27 | - |
1-206650129-G-A | IKBKE | c.649G>A | p.G217S | Missense | 7/22 | - |
7-81350080-T-A | HGF | c.1252A>T | p.N418Y | Missense | 10/18 | - |
16-14029579-G-C | ERCC4 | c.1790G>C | p.S597T | Missense | 8/11 | - |
3-156422528-A-G | TIPARP | c.1582A>G | p.R528G | Missense | 6/6 | - |
15-88678599-G-T | NTRK3 | c.937C>A | p.P313T | Missense | 10/20 | - |
X-47045945-T-C | RBM10 | c.2740T>C | p.Y914H | Missense | 24/24 | - |
6-43739000-C-A | VEGFA | c.557C>A | p.S186Y | Missense | 1/8 | - |
17-56774055-A-C | RAD51C | c.406A>C | p.M136L | Missense | 3/9 | - |
5-228320-C-G | SDHA | c.642C>G | p.S214R | Missense | 6/15 | - |
5-228320-C-A | SDHA | c.642C>A | p.S214R | Missense | 6/15 | - |
19-15302267-GA-AT | NOTCH3 | c.1003_1004delTCinsAT | p.S335I | Missense | 6/33 | - |
3-187444677-GC-AT | BCL6 | c.1549_1550delGCinsAT | p.A517I | Missense | 7/10 | - |
9-35078648-AC-CT | FANCG | c.260_261delGTinsAG | p.G87E | Missense | 3/14 | - |
13-73347869-T-C | DIS3 | c.1192A>G | p.I398V | Missense | 8/21 | - |
5-149495403-G-C | PDGFRB | c.3244C>G | p.P1082A | Missense | 23/23 | - |
11-108155164-T-G | ATM | c.3957T>G | p.Y1319* | Nonsense | 26/63 | - |
5-56177557-TC-CG | MAP3K1 | c.2530_2531delTCinsCG | p.S844R | Missense | 14/20 | - |
6-134528542-T-G | SGK1 | c.313A>C | p.I105L | Missense | 3/14 | - |
6-33287822-A-C | DAXX | c.1431T>G | p.D477E | Missense | 5/8 | - |
6-33287822-A-T | DAXX | c.1431T>A | p.D477E | Missense | 5/8 | - |
1-16255361-C-G | SPEN | c.2626C>G | p.P876A | Missense | 11/15 | - |
12-15718549-AG-CA | PTPRO | c.2734_2735delAGinsCA | p.R912Q | Missense | 18/27 | - |
5-56179460-A-G | MAP3K1 | c.3773A>G | p.Y1258C | Missense | 15/20 | - |
4-1919916-A-G | NSD2 | c.976A>G | p.I326V | Missense | 5/22 | - |
19-19258634-T-C | MEF2B | c.266A>G | p.K89R | Missense | 4/9 | - |
7-116411576-G-A | MET | c.2755G>A | p.V919I | Missense | 13/21 | - |
7-116398619-AG-CT | MET | c.2209_2210delAGinsCT | p.S737L | Missense | 9/21 | - |
19-15311684-GCG-CCA | NOTCH3 | c.31_33delCGCinsTGG | p.R11W | Missense | 1/33 | - |
9-5522584-A-G | PDCD1LG2 | c.38A>G | p.Q13R | Missense | 2/7 | - |
3-89448601-G-T | EPHA3 | c.1565G>T | p.R522L | Missense | 7/17 | - |
11-108155164-T-A | ATM | c.3957T>A | p.Y1319* | Nonsense | 26/63 | - |
5-138378321-TGA-GTT | SIL1 | c.439_441delTCAinsAAC | p.S147N | Missense | 5/10 | - |
13-28622417-TCC-ACA | FLT3 | c.1198_1200delGGAinsTGT | p.G400C | Missense | 9/24 | - |
8-90993696-G-C | NBN | c.227C>G | p.T76S | Missense | 3/16 | - |
17-76354850-CC-AT | SOCS3 | c.326_327delGGinsAT | p.R109H | Missense | 2/2 | - |
12-40651118-A-G | LRRK2 | c.1357A>G | p.I453V | Missense | 12/51 | - |
6-139164354-T-C | ECT2L | c.581T>C | p.I194T | Missense | 6/22 | - |
2-25471064-G-A | DNMT3A | c.697C>T | p.P233S | Missense | 7/23 | - |
12-15710396-G-A | PTPRO | c.2566G>A | p.G856R | Missense | 16/27 | - |
12-15710396-G-C | PTPRO | c.2566G>C | p.G856R | Missense | 16/27 | - |
12-498127-T-C | KDM5A | c.131A>G | p.E44G | Missense | 1/28 | - |
4-55593455-A-G | KIT | c.1612A>G | p.I538V | Missense | 10/21 | - |
6-139135717-A-T | ECT2L | c.156A>T | p.L52F | Missense | 4/22 | - |
6-139135717-A-C | ECT2L | c.156A>C | p.L52F | Missense | 4/22 | - |
16-716701-C-T | WDR90 | c.4913C>T | p.A1638V | Missense | 39/41 | - |
12-15654869-C-G | PTPRO | c.977C>G | p.T326R | Missense | 5/27 | - |
6-106554366-G-A | PRDM1 | c.1894G>A | p.E632K | Missense | 6/7 | - |
12-402000-C-A | KDM5A | c.4791G>T | p.W1597C | Missense | 27/28 | - |
12-402000-C-G | KDM5A | c.4791G>C | p.W1597C | Missense | 27/28 | - |
X-63410231-T-C | AMER1 | c.2936A>G | p.Q979R | Missense | 2/2 | - |
10-129904454-C-T | MKI67 | c.5650G>A | p.A1884T | Missense | 13/15 | - |
15-41797618-C-T | LTK | c.1808G>A | p.R603K | Missense | 14/20 | - |
1-156834198-G-A | NTRK1 | c.265G>A | p.G89S | Missense | 2/17 | - |
2-47643453-A-G | MSH2 | c.961A>G | p.T321A | Missense | 6/16 | - |
11-119077236-C-T | CBL | c.109C>T | p.H37Y | Missense | 1/16 | - |
14-68353802-G-T | RAD51B | c.637G>T | p.A213S | Missense | 7/11 | - |
19-33792983-G-C | CEBPA | c.338C>G | p.A113G | Missense | 1/1 | - |
10-8100780-AGG-TGT | GATA3 | c.754_756delAGGinsTGT | p.R252C | Missense | 3/6 | - |
19-15303198-AC-TT | NOTCH3 | c.329_330delGTinsAA | p.R110Q | Missense | 3/33 | - |
1-120458929-A-G | NOTCH2 | c.6416T>C | p.V2139A | Missense | 34/34 | - |
1-65332862-T-C | JAK1 | c.677A>G | p.N226S | Missense | 7/25 | - |
1-120479960-T-C | NOTCH2 | c.3467A>G | p.N1156S | Missense | 21/34 | - |
5-67592162-T-C | PIK3R1 | c.1978T>C | p.S660P | Missense | 15/16 | - |
1-16258688-AGG-CAT | SPEN | c.5953_5955delAGGinsCAT | p.R1985H | Missense | 11/15 | - |
7-142640389-T-C | KEL | c.1745A>G | p.E582G | Missense | 16/19 | - |
18-48591909-GG-CT | SMAD4 | c.1072_1073delGGinsCT | p.G358L | Missense | 9/12 | - |
9-98231301-G-C | PTCH1 | c.1982C>G | p.T661S | Missense | 14/24 | - |
9-98231302-T-A | PTCH1 | c.1981A>T | p.T661S | Missense | 14/24 | - |
1-156849887-G-A | NTRK1 | c.2143G>A | p.V715M | Missense | 16/17 | - |
4-106157240-CA-GT | TET2 | c.2141_2142delCAinsGT | p.S714C | Missense | 3/11 | - |
7-100410596-G-A | EPHB4 | c.1891C>T | p.R631W | Missense | 12/17 | - |
9-5080613-G-C | JAK2 | c.2364G>C | p.M788I | Missense | 18/25 | - |
9-5080613-G-A | JAK2 | c.2364G>A | p.M788I | Missense | 18/25 | - |
8-90993697-T-A | NBN | c.226A>T | p.T76S | Missense | 3/16 | - |
9-27203033-C-G | TEK | c.2125C>G | p.Q709E | Missense | 13/23 | - |
X-123220450-A-C | STAG2 | c.3107A>C | p.D1036A | Missense | 30/35 | - |
16-699849-GTC-ATG | WDR90 | c.97_99delGTCinsATG | p.V33M | Missense | 2/41 | - |
10-112349396-CG-AA | SMC3 | c.1339_1340delCGinsAA | p.R447K | Missense | 14/29 | - |
16-706448-G-C | WDR90 | c.2113G>C | p.A705P | Missense | 18/41 | - |
1-43818268-C-T | MPL | c.1733C>T | p.T578I | Missense | 12/12 | - |
5-112178033-A-T | APC | c.6742A>T | p.K2248* | Nonsense | 16/16 | - |
17-70119056-G-A | SOX9 | c.628G>A | p.D210N | Missense | 2/3 | - |
6-91269880-A-T | MAP3K7 | c.397T>A | p.W133R | Missense | 5/17 | - |
6-91269880-A-G | MAP3K7 | c.397T>C | p.W133R | Missense | 5/17 | - |
19-50918726-G-A | POLD1 | c.2596G>A | p.D866N | Missense | 21/27 | - |
7-2954916-G-A | CARD11 | c.2794C>T | p.R932W | Missense | 21/25 | - |
16-2098654-A-G | TSC2 | c.38A>G | p.E13G | Missense | 2/42 | - |
16-3830754-CG-TA | CREBBP | c.1801_1802delCGinsTA | p.R601* | Nonsense | 8/31 | - |
1-43805652-AGAG-A | MPL | c.710_712delAGG | p.E237del | InFrameDeletion | 5/12 | - |
1-27690550-C-T | MAP3K6 | c.722G>A | p.R241Q | Missense | 5/29 | - |
7-82582855-C-A | PCLO | c.7414G>T | p.G2472* | Nonsense | 5/25 | - |
10-112359416-G-A | SMC3 | c.2273G>A | p.R758H | Missense | 21/29 | - |
11-118352773-G-C | KMT2A | c.3978G>C | p.E1326D | Missense | 7/36 | - |
11-118352773-G-T | KMT2A | c.3978G>T | p.E1326D | Missense | 7/36 | - |
3-47165719-C-G | SETD2 | c.407G>C | p.R136T | Missense | 3/21 | - |
1-27099463-G-C | ARID1A | c.3700G>C | p.G1234R | Missense | 14/20 | - |
9-139401285-C-T | NOTCH1 | c.3784G>A | p.E1262K | Missense | 23/34 | - |
5-138160363-T-C | CTNNA1 | c.733T>C | p.Y245H | Missense | 6/18 | - |
9-27206659-T-A | TEK | c.2444T>A | p.I815N | Missense | 15/23 | - |
13-110438338-GTT-TTA | IRS2 | c.61_63delAACinsTAA | p.N21* | Nonsense | 1/2 | - |
13-28624282-C-A | FLT3 | c.692G>T | p.C231F | Missense | 6/24 | - |
16-89809246-T-A | FANCA | c.3727A>T | p.R1243W | Missense | 37/43 | - |
2-48027361-C-G | MSH6 | c.2239C>G | p.L747V | Missense | 4/10 | - |
10-129905840-T-C | MKI67 | c.4264A>G | p.K1422E | Missense | 13/15 | - |
19-2213905-G-A | DOT1L | c.1717G>A | p.A573T | Missense | 18/28 | - |
11-118390746-A-G | KMT2A | c.11396A>G | p.E3799G | Missense | 33/36 | - |
2-47643457-G-C | MSH2 | c.965G>C | p.G322A | Missense | 6/16 | - |
7-151879645-ATTT-A | KMT2C | c.5297_5299delAAA | p.K1766del | InFrameDeletion | 36/59 | - |
9-35075687-G-A | FANCG | c.1208C>T | p.A403V | Missense | 10/14 | - |
4-143191816-C-G | INPP4B | c.615G>C | p.K205N | Missense | 10/26 | - |
4-143191816-C-A | INPP4B | c.615G>T | p.K205N | Missense | 10/26 | - |
15-41804124-G-A | LTK | c.548C>T | p.S183F | Missense | 5/20 | - |
1-120491117-GT-AG | NOTCH2 | c.2671_2672delACinsCT | p.T891L | Missense | 17/34 | - |
5-44388634-T-C | FGF10 | c.151A>G | p.N51D | Missense | 1/3 | - |
7-100424601-C-T | EPHB4 | c.52G>A | p.E18K | Missense | 1/17 | - |
17-29683588-G-A | NF1 | c.7726G>A | p.D2576N | Missense | 52/58 | - |
5-176517537-CG-TA | FGFR4 | c.238_239delCGinsTA | p.R80* | Nonsense | 3/18 | - |
8-38178682-C-G | NSD3 | c.1717G>C | p.E573Q | Missense | 8/24 | - |
7-151896427-A-C | KMT2C | c.4210T>G | p.L1404V | Missense | 27/59 | - |
4-1941418-G-C | NSD2 | c.1794G>C | p.K598N | Missense | 9/22 | - |
4-1941418-G-T | NSD2 | c.1794G>T | p.K598N | Missense | 9/22 | - |
12-69967999-A-G | FRS2 | c.791A>G | p.E264G | Missense | 9/9 | - |
17-33430293-C-T | RAD51D | c.718G>A | p.D240N | Missense | 8/10 | - |
6-33289025-GA-CG | DAXX | c.526_527delTCinsCG | p.S176R | Missense | 3/8 | - |
4-106157188-C-T | TET2 | c.2089C>T | p.P697S | Missense | 3/11 | - |
8-37695452-C-G | ADGRA2 | c.2254C>G | p.L752V | Missense | 14/19 | - |
7-55240731-G-T | EGFR | c.1975G>T | p.V659L | Missense | 17/28 | - |
8-90967643-G-C | NBN | c.1265C>G | p.A422G | Missense | 10/16 | - |
13-110436200-T-C | IRS2 | c.2201A>G | p.E734G | Missense | 1/2 | - |
X-47426800-C-G | ARAF | c.1045C>G | p.Q349E | Missense | 10/16 | - |
4-1940256-G-A | NSD2 | c.1753G>A | p.A585T | Missense | 8/22 | - |
13-110436293-G-T | IRS2 | c.2108C>A | p.P703H | Missense | 1/2 | - |
12-124858967-CT-AG | NCOR2 | c.2209_2210delAGinsCT | p.S737L | Missense | 21/49 | - |
4-106183001-A-G | TET2 | c.4040A>G | p.N1347S | Missense | 8/11 | - |
5-138463441-CT-GG | SIL1 | c.91_92delAGinsCC | p.S31P | Missense | 2/10 | - |
2-225346795-C-T | CUL3 | c.1843G>A | p.E615K | Missense | 14/16 | - |
8-38285596-C-T | FGFR1 | c.464G>A | p.W155* | Nonsense | 5/18 | - |
8-38285595-C-T | FGFR1 | c.465G>A | p.W155* | Nonsense | 5/18 | - |
6-106536122-C-G | PRDM1 | c.89C>G | p.A30G | Missense | 2/7 | - |
16-23641064-G-A | PALB2 | c.2411C>T | p.S804F | Missense | 5/13 | - |
16-3828790-G-A | CREBBP | c.1852C>T | p.P618S | Missense | 9/31 | - |
4-55565926-C-G | KIT | c.750C>G | p.N250K | Missense | 4/21 | - |
X-70471084-T-C | ZMYM3 | c.722A>G | p.E241G | Missense | 4/25 | - |
9-35076561-C-T | FANCG | c.944G>A | p.S315N | Missense | 8/14 | - |
13-28896424-C-G | FLT1 | c.3026G>C | p.G1009A | Missense | 22/30 | - |
12-56495442-C-T | ERBB3 | c.3632C>T | p.P1211L | Missense | 28/28 | - |
5-138456770-GAC-CAT | SIL1 | c.196_198delGTCinsATG | p.V66M | Missense | 3/10 | - |
8-48805900-C-G | PRKDC | c.3646G>C | p.G1216R | Missense | 31/87 | - |
9-139411796-C-T | NOTCH1 | c.1483G>A | p.A495T | Missense | 9/34 | - |
18-19751848-G-C | GATA6 | c.743G>C | p.G248A | Missense | 2/7 | - |
2-136873361-GA-CG | CXCR4 | c.136_137delTCinsCG | p.S46R | Missense | 2/2 | - |
3-41279545-ACCC-A | CTNNB1 | c.2117_2119delCCC | p.P706del | InFrameDeletion | 14/15 | - |
17-56492819-TCT-ACA | RNF43 | c.118_120delAGAinsTGT | p.R40C | Missense | 2/10 | - |
4-55593476-T-C | KIT | c.1633T>C | p.Y545H | Missense | 10/21 | - |
16-3830840-TTCC-T | CREBBP | c.1714_1716delGGA | p.G572del | InFrameDeletion | 8/31 | - |
2-225365127-C-G | CUL3 | c.1563G>C | p.K521N | Missense | 11/16 | - |
2-225365127-C-A | CUL3 | c.1563G>T | p.K521N | Missense | 11/16 | - |
19-50919767-G-T | POLD1 | c.2935G>T | p.A979S | Missense | 23/27 | - |
17-27417605-T-C | MYO18A | c.5333A>G | p.D1778G | Missense | 36/42 | - |
1-206666680-C-G | IKBKE | c.2014C>G | p.P672A | Missense | 20/22 | - |
8-48817529-CT-TG | PRKDC | c.2941_2942delAGinsCA | p.R981Q | Missense | 26/87 | - |
1-16265367-A-G | SPEN | c.10859A>G | p.N3620S | Missense | 14/15 | - |
12-48191894-T-C | HDAC7 | c.458A>G | p.Y153C | Missense | 5/26 | - |
10-89720813-A-C | PTEN | c.964A>C | p.K322Q | Missense | 8/9 | - |
3-38181371-G-T | MYD88 | c.345G>T | p.K115N | Missense | 2/5 | - |
5-112178807-A-C | APC | c.7516A>C | p.K2506Q | Missense | 16/16 | - |
5-38959987-T-C | RICTOR | c.1945A>G | p.N649D | Missense | 21/38 | - |
22-46722491-C-T | GTSE1 | c.1664C>T | p.S555F | Missense | 9/12 | - |
14-68353874-AGA-CAT | RAD51B | c.709_711delAGAinsCAT | p.R237H | Missense | 7/11 | - |
X-70342603-GG-AT | MED12 | c.1364_1365delGGinsAT | p.R455H | Missense | 10/45 | - |
17-78820368-CCTG-C | RPTOR | c.1310_1312delTGC | p.L437del | InFrameDeletion | 11/34 | - |
9-98268730-G-A | PTCH1 | c.353C>T | p.A118V | Missense | 2/24 | - |
1-120465327-G-A | NOTCH2 | c.4934C>T | p.A1645V | Missense | 27/34 | - |
11-66639218-GC-CT | PC | c.260_261delGCinsAG | p.G87E | Missense | 5/23 | - |
22-41513815-A-T | EP300 | c.719A>T | p.Q240L | Missense | 2/31 | - |
17-27492997-A-G | MYO18A | c.962T>C | p.L321P | Missense | 2/42 | - |
6-33289071-G-T | DAXX | c.481C>A | p.P161T | Missense | 3/8 | - |
17-78919577-A-C | RPTOR | c.3136A>C | p.I1046L | Missense | 26/34 | - |
18-42531324-G-C | SETBP1 | c.2019G>C | p.K673N | Missense | 4/6 | - |
18-42531324-G-T | SETBP1 | c.2019G>T | p.K673N | Missense | 4/6 | - |
17-63052610-G-C | GNA13 | c.102C>G | p.I34M | Missense | 1/4 | - |
3-142280209-C-G | ATR | c.1225G>C | p.E409Q | Missense | 5/47 | - |
2-212568879-G-C | ERBB4 | c.1239C>G | p.D413E | Missense | 11/28 | - |
2-212568879-G-T | ERBB4 | c.1239C>A | p.D413E | Missense | 11/28 | - |
2-141108532-C-T | LRP1B | c.11726G>A | p.G3909D | Missense | 77/91 | - |
9-139391548-A-T | NOTCH1 | c.6643T>A | p.S2215T | Missense | 34/34 | - |
15-99491915-C-A | IGF1R | c.3700C>A | p.P1234T | Missense | 20/21 | - |
5-1282620-C-T | TERT | c.1693G>A | p.E565K | Missense | 3/16 | - |
1-27101620-G-C | ARID1A | c.4902G>C | p.M1634I | Missense | 18/20 | - |
1-27101620-G-A | ARID1A | c.4902G>A | p.M1634I | Missense | 18/20 | - |
1-16255038-C-A | SPEN | c.2303C>A | p.S768* | Nonsense | 11/15 | - |
1-16255038-C-G | SPEN | c.2303C>G | p.S768* | Nonsense | 11/15 | - |
9-139402470-G-T | NOTCH1 | c.3447C>A | p.C1149* | Nonsense | 21/34 | - |
12-46245822-C-G | ARID2 | c.3916C>G | p.P1306A | Missense | 15/21 | - |
12-46211484-G-C | ARID2 | c.450G>C | p.M150I | Missense | 5/21 | - |
12-46211484-G-A | ARID2 | c.450G>A | p.M150I | Missense | 5/21 | - |
7-82583181-G-A | PCLO | c.7088C>T | p.S2363F | Missense | 5/25 | - |
12-46211484-G-T | ARID2 | c.450G>T | p.M150I | Missense | 5/21 | - |
17-56435150-G-A | RNF43 | c.1987C>T | p.P663S | Missense | 9/10 | - |
22-41533775-A-C | EP300 | c.1741A>C | p.N581H | Missense | 8/31 | - |
22-41572440-G-C | EP300 | c.4969G>C | p.E1657Q | Missense | 30/31 | - |
6-93956643-G-T | EPHA7 | c.2593C>A | p.L865I | Missense | 15/17 | - |
1-120056525-G-C | HSD3B1 | c.379G>C | p.E127Q | Missense | 4/4 | - |
15-99478647-G-C | IGF1R | c.3289G>C | p.E1097Q | Missense | 17/21 | - |
X-53247082-G-A | KDM5C | c.418C>T | p.R140C | Missense | 4/26 | - |
1-47037832-G-C | MKNK1 | c.396C>G | p.I120M | Missense | 7/13 | - |
11-118343396-G-C | KMT2A | c.1522G>C | p.E508Q | Missense | 3/36 | - |
17-37666010-G-A | CDK12 | c.2662G>A | p.E888K | Missense | 7/14 | - |
17-29556367-C-G | NF1 | c.2734C>G | p.Q912E | Missense | 21/58 | - |
22-30069468-G-C | NF2 | c.1333G>C | p.E445Q | Missense | 12/16 | - |
7-82579169-G-A | PCLO | c.10735C>T | p.Q3579* | Nonsense | 6/25 | - |
3-169993035-C-T | PRKCI | c.665C>T | p.S222L | Missense | 8/18 | - |
10-43607653-G-A | RET | c.1629G>A | p.W543* | Nonsense | 8/20 | - |
5-38955742-C-T | RICTOR | c.2564G>A | p.R855Q | Missense | 26/38 | - |
X-123185064-T-C | STAG2 | c.1111T>C | p.F371L | Missense | 12/35 | - |
X-123185066-C-A | STAG2 | c.1113C>A | p.F371L | Missense | 12/35 | - |
19-1621926-G-C | TCF3 | c.866C>G | p.S289C | Missense | 11/19 | - |
16-716959-G-A | WDR90 | c.5059G>A | p.G1687R | Missense | 40/41 | - |
16-716959-G-C | WDR90 | c.5059G>C | p.G1687R | Missense | 40/41 | - |
17-56435980-CG-TA | RNF43 | c.1156_1157delCGinsTA | p.R386* | Nonsense | 9/10 | - |
18-45394784-C-T | SMAD2 | c.565G>A | p.E189K | Missense | 5/11 | - |
1-32793159-A-G | HDAC1 | c.517A>G | p.I173V | Missense | 6/14 | - |
5-176519481-C-T | FGFR4 | c.887C>T | p.A296V | Missense | 7/18 | - |
12-133257788-C-T | POLE | c.140G>A | p.R47Q | Missense | 2/49 | - |
11-69625420-C-G | FGF3 | c.373G>C | p.G125R | Missense | 3/3 | - |
1-17359590-T-C | SDHB | c.251A>G | p.D84G | Missense | 3/8 | - |
1-120458635-C-T | NOTCH2 | c.6710G>A | p.S2237N | Missense | 34/34 | - |
2-61709551-G-A | XPO1 | c.2936C>T | p.A979V | Missense | 23/25 | - |
1-11174932-G-A | MTOR | c.7102C>T | p.R2368* | Nonsense | 52/58 | - |
16-23649219-GTTC-G | PALB2 | c.160_162delGAA | p.E54del | InFrameDeletion | 3/13 | - |
19-2216649-G-A | DOT1L | c.2293G>A | p.G765S | Missense | 20/28 | - |
3-89499459-A-G | EPHA3 | c.2629A>G | p.I877V | Missense | 15/17 | - |
1-78435675-C-A | FUBP1 | c.145G>T | p.A49S | Missense | 2/20 | - |
4-55604644-T-C | KIT | c.2852T>C | p.V951A | Missense | 21/21 | - |
11-118343243-G-A | KMT2A | c.1369G>A | p.G457R | Missense | 3/36 | - |
11-118343243-G-C | KMT2A | c.1369G>C | p.G457R | Missense | 3/36 | - |
19-2226617-CT-AA | DOT1L | c.4097_4098delCTinsAA | p.P1366Q | Missense | 27/28 | - |
1-11288903-G-T | MTOR | c.2852C>A | p.S951Y | Missense | 19/58 | - |
2-112751933-G-T | MERTK | c.1402G>T | p.G468* | Nonsense | 9/19 | - |
8-128751245-C-T | MYC | c.782C>T | p.P261L | Missense | 2/3 | - |
17-56435472-G-T | RNF43 | c.1665C>A | p.H555Q | Missense | 9/10 | - |
17-56435472-G-C | RNF43 | c.1665C>G | p.H555Q | Missense | 9/10 | - |
22-41545910-C-G | EP300 | c.2525C>G | p.P842R | Missense | 14/31 | - |
3-47164871-A-G | SETD2 | c.1255T>C | p.Y419H | Missense | 3/21 | - |
11-94224117-GT-TA | MRE11 | c.34_35delACinsTA | p.T12* | Nonsense | 3/20 | - |
3-47165372-C-T | SETD2 | c.754G>A | p.A252T | Missense | 3/21 | - |
9-97912295-A-G | FANCC | c.596T>C | p.L199P | Missense | 7/15 | - |
3-142277504-T-C | ATR | c.1847A>G | p.N616S | Missense | 8/47 | - |
17-59793402-T-C | BRIP1 | c.2402A>G | p.N801S | Missense | 17/20 | - |
1-118166418-C-T | TENT5C | c.928C>T | p.L310F | Missense | 2/2 | - |
17-41245430-CAGG-C | BRCA1 | c.2116_2118delCCT | p.P706del | InFrameDeletion | 10/23 | - |