PMID: 35358259

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

PloS one
Aoyagi, Yasuko Y, Kano, Yoshihito Y, Tohyama, Kohki K, Matsudera, Shotaro S, Kumaki, Yuichi Y, Takahashi, Kenta K, Mitsumura, Takahiro T, Harada, Yohei Y, Sato, Akemi A, Nakamura, Hideaki H, Sueoka, Eisaburo E, Aragane, Naoko N, Kimura, Koichiro K, Onishi, Iichiro I, Takemoto, Akira A, Akahoshi, Keiichi K, Ono, Hiroaki H, Ishikawa, Toshiaki T, Tokunaga, Masanori M, Nakagawa, Tsuyoshi T, Oshima, Noriko N, Nakamura, Reiko R, Takagi, Masatoshi M, Asakage, Takahiro T, Uetake, Hiroyuki H, Tanabe, Minoru M, Miyake, Satoshi S, Kinugasa, Yusuke Y, Ikeda, Sadakatsu S
2022

945 variants were identified in this publication


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 -