PMID: 29945233

appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)
Sandmann, Sarah S, Karimi, Mohsen M, de Graaf, Aniek O AO, Rohde, Christian C, Göllner, Stefanie S, Varghese, Julian J, Ernsting, Jan J, Walldin, Gunilla G, van der Reijden, Bert A BA, Müller-Tidow, Carsten C, Malcovati, Luca L, Hellström-Lindberg, Eva E, Jansen, Joop H JH, Dugas, Martin M
2018-12-15

14789 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-128206618-C-A GATA2 c.1-744G>T - IntronicSNV - 1/5
3-128206618-C-G GATA2 c.1-744G>C - IntronicSNV - 1/5
5-79950781-A-G DHFR c.1-473T>C - 5-UTRSNV 1/6 -
17-7578236-A-C TP53 c.613T>G p.Y205D Missense 6/11 -
16-3779115-T-C CREBBP c.5933A>G p.N1978S Missense 31/31 -
3-128204951-C-T GATA2 c.490G>A p.A164T Missense 3/6 -
11-108124761-T-C ATM c.2119T>C p.S707P Missense 13/63 -
11-108098576-C-G ATM c.146C>G p.S49C Missense 3/63 -
11-108138003-T-C ATM c.2572T>C p.F858L Missense 17/63 -
13-28592653-C-T FLT3 c.2492G>A p.G831E Missense 20/24 -
17-7579848-A-T TP53 c.65T>A p.L22Q Missense 2/11 -
17-7579845-C-G TP53 c.68G>C p.W23S Missense 2/11 -
2-48027755-T-C MSH6 c.2633T>C p.V878A Missense 4/10 -
11-108183167-A-G ATM c.5948A>G p.N1983S Missense 40/63 -
11-108160350-C-T ATM c.4258C>T p.L1420F Missense 29/63 -
17-7579578-A-C TP53 c.109T>G p.S37A Missense 4/11 -
5-112175240-G-C APC c.3949G>C p.E1317Q Missense 16/16 -
9-5073781-C-A JAK2 c.1860C>A p.D620E Missense 14/25 -
17-7577098-T-G TP53 c.840A>C p.R280S Missense 8/11 -
17-7578415-A-T TP53 c.515T>A p.V172D Missense 5/11 -
5-112175225-G-T APC c.3934G>T p.G1312* Nonsense 16/16 -
5-112175426-G-T APC c.4135G>T p.E1379* Nonsense 16/16 -
17-7576909-T-C TP53 c.937A>G p.S313G Missense 9/11 -
17-7578409-C-T TP53 c.521G>A p.R174K Missense 5/11 -
17-7578374-C-T TP53 c.556G>A p.D186N Missense 5/11 -
17-7578490-A-C TP53 c.440T>G p.V147G Missense 5/11 -
1-20915701-A-C CDA c.79A>C p.K27Q Missense 1/4 -
13-32914236-C-T BRCA2 c.5744C>T p.T1915M Missense 11/27 -
12-25398211-T-C KRAS c.108A>G p.I36M Missense 2/5 -
12-112926887-G-A PTPN11 c.1507G>A p.G503R Missense 13/16 -
12-25398218-G-T KRAS c.101C>A p.P34Q Missense 2/5 -
2-48025785-A-C MSH6 c.663A>C p.E221D Missense 4/10 -
2-47643457-G-A MSH2 c.965G>A p.G322D Missense 6/16 -
5-176637471-G-A NSD1 c.2071G>A p.A691T Missense 5/23 -
5-176637576-T-C NSD1 c.2176T>C p.S726P Missense 5/23 -
5-176638506-G-C NSD1 c.3106G>C p.A1036P Missense 5/23 -
5-176721119-G-A NSD1 c.6750G>A p.M2250I Missense 23/23 -
5-176721151-T-C NSD1 c.6782T>C p.M2261T Missense 23/23 -
5-176722005-G-A NSD1 c.7636G>A p.A2546T Missense 23/23 -
5-176637240-G-T NSD1 c.1840G>T p.V614L Missense 5/23 -
11-108196896-C-T ATM c.6919C>T p.L2307F Missense 47/63 -
11-108170506-A-C ATM c.5071A>C p.S1691R Missense 34/63 -
11-108155132-G-A ATM c.3925G>A p.A1309T Missense 26/63 -
1-65348981-T-C JAK1 c.184A>G p.I62V Missense 3/25 -
5-112128170-G-T APC c.673G>T p.E225* Nonsense 7/16 -
5-112175216-G-T APC c.3925G>T p.E1309* Nonsense 16/16 -
17-7573942-C-T TP53 c.1085G>A p.S362N Missense 10/11 -
17-7572983-A-C TP53 c.1126T>G p.S376A Missense 11/11 -
17-7572998-A-C TP53 c.1111T>G p.S371A Missense 11/11 -
17-7579861-T-C TP53 c.52A>G p.T18A Missense 2/11 -
4-55592202-A-T KIT c.1526A>T p.K509I Missense 9/21 -
13-32937488-G-T BRCA2 c.8149G>T p.A2717S Missense 18/27 -
17-41243733-T-C BRCA1 c.3815A>G p.N1272S Missense 10/23 -
17-41258506-T-C BRCA1 c.179A>G p.Q60R Missense 4/23 -
4-72631340-C-A GC c.282G>T p.K94N Missense 4/13 -
9-133760106-C-T ABL1 c.2429C>T p.P810L Missense 11/11 -
5-67588148-G-A PIK3R1 c.978G>A p.M326I Missense 8/16 -
6-45399720-T-G RUNX2 c.544T>G p.F182V Missense 4/9 -
22-29886043-A-C NEFH c.2414A>C p.E805A Missense 4/4 -
2-48025764-C-A MSH6 c.642C>A p.Y214* Nonsense 4/10 -
16-3820723-T-C CREBBP c.2728A>G p.T910A Missense 14/31 -
22-41574383-A-C EP300 c.6668A>C p.Q2223P Missense 31/31 -
4-55593584-A-C KIT c.1650A>C p.K550N Missense 11/21 -
13-28626716-C-T FLT3 c.580G>A p.V194M Missense 5/24 -
17-7576876-C-T TP53 c.970G>A p.D324N Missense 9/11 -
21-36259324-A-G RUNX1 c.167T>C p.L56S Missense 4/9 -
21-36164601-G-A RUNX1 c.1274C>T p.P425L Missense 9/9 -
21-36252866-G-A RUNX1 c.496C>T p.R166* Nonsense 5/9 -
17-7579842-T-C TP53 c.71A>G p.K24R Missense 2/11 -
9-21974796-G-A CDKN2A c.31C>T p.P11S Missense 1/3 -
17-7578226-T-G TP53 c.623A>C p.D208A Missense 6/11 -
12-12022375-A-G ETV6 c.481A>G p.T161A Missense 5/8 -
17-7578551-A-G TP53 c.379T>C p.S127P Missense 5/11 -
17-7579401-A-C TP53 c.286T>G p.S96A Missense 4/11 -
9-21974751-C-A CDKN2A c.76G>T p.E26* Nonsense 1/3 -
9-139390662-A-G NOTCH1 c.7529T>C p.L2510P Missense 34/34 -
9-139399167-C-T NOTCH1 c.4976G>A p.G1659D Missense 26/34 -
10-89717716-A-T PTEN c.741A>T p.L247F Missense 7/9 -
14-75513828-G-A MLH3 c.2531C>T p.P844L Missense 2/13 -
17-7579551-A-C TP53 c.136T>G p.S46A Missense 4/11 -
12-25398287-G-T KRAS c.32C>A p.A11D Missense 2/5 -
17-7578281-G-C TP53 c.568C>G p.P190A Missense 6/11 -
4-55599322-C-A KIT c.2448C>A p.D816E Missense 17/21 -
17-7579532-T-A TP53 c.155A>T p.Q52L Missense 4/11 -
17-7578518-C-G TP53 c.412G>C p.A138P Missense 5/11 -
2-48026308-C-G MSH6 c.1186C>G p.L396V Missense 4/10 -
1-45800156-C-T MUTYH c.22G>A p.V8M Missense 2/16 -
9-5073739-C-A JAK2 c.1818C>A p.H606Q Missense 14/25 -
9-5073728-A-C JAK2 c.1807A>C p.K603Q Missense 14/25 -
17-7574019-C-A TP53 c.1008G>T p.E336D Missense 10/11 -
11-119148919-T-C CBL c.1139T>C p.L380P Missense 8/16 -
17-7577511-A-T TP53 c.770T>A p.L257Q Missense 7/11 -
17-7578196-A-C TP53 c.653T>G p.V218G Missense 6/11 -
17-7578397-T-G TP53 c.533A>C p.H178P Missense 5/11 -
12-25380279-C-T KRAS c.179G>A p.G60D Missense 3/5 -
17-7579395-G-A TP53 c.292C>T p.P98S Missense 4/11 -
17-7578272-G-C TP53 c.577C>G p.H193D Missense 6/11 -
5-112175423-C-T APC c.4132C>T p.Q1378* Nonsense 16/16 -
2-25457242-C-G DNMT3A c.2645G>C p.R882P Missense 23/23 -
2-25463553-C-T DNMT3A c.2129G>A p.C710Y Missense 18/23 -
2-25464568-C-T DNMT3A c.1945G>A p.V649M Missense 17/23 -
2-25463541-G-C DNMT3A c.2141C>G p.S714C Missense 18/23 -
2-25466797-C-A DNMT3A c.1906G>T p.V636L Missense 16/23 -
2-198267484-G-C SF3B1 c.1873C>G p.R625G Missense 14/25 -
16-23641461-C-G PALB2 c.2014G>C p.E672Q Missense 5/13 -
4-55593464-A-T KIT c.1621A>T p.M541L Missense 10/21 -
12-11905438-T-C ETV6 c.88T>C p.S30P Missense 2/8 -
17-7577128-A-T TP53 c.810T>A p.F270L Missense 8/11 -
17-7578427-T-A TP53 c.503A>T p.H168L Missense 5/11 -
17-7577127-C-A TP53 c.811G>T p.E271* Nonsense 8/11 -
17-7577118-C-G TP53 c.820G>C p.V274L Missense 8/11 -
17-7578440-T-A TP53 c.490A>T p.K164* Nonsense 5/11 -
17-7574012-C-T TP53 c.1015G>A p.E339K Missense 10/11 -
17-7578279-AG-A TP53 c.569delC p.P190Lfs*57 Frameshift 6/11 -
17-7578474-C-CG TP53 c.455_455dup p.P153Afs*28 Frameshift 5/11 -
17-7579470-C-CG TP53 c.216dupC p.V73Rfs*76 Frameshift 4/11 -
5-112111329-CAT-C APC c.426_427delAT p.L143Afs*4 Frameshift 5/16 -
5-112175675-AAG-A APC c.4393_4394delAG p.S1465Wfs*3 Frameshift 16/16 -
19-10270710-G-T DNMT1 c.1073C>A p.T358K Missense 15/41 -
19-10270719-C-G DNMT1 c.1064G>C p.R355P Missense 15/41 -
19-10273372-T-C DNMT1 c.979A>G p.I327V Missense 13/41 -
19-10291065-G-A DNMT1 c.406C>T p.R136C Missense 4/41 -
19-10291473-C-T DNMT1 c.206G>A p.R69H Missense 3/41 -
19-10305526-G-A DNMT1 c.50C>T p.A17V Missense 1/41 -
19-10250846-G-C DNMT1 c.3682C>G p.P1228A Missense 33/41 -
7-116339155-T-G MET c.17T>G p.V6G Missense 2/21 -
10-102749069-G-A TWNK c.1102G>A p.V368I Missense 1/5 -
10-102749069-G-T TWNK c.1102G>T p.V368L Missense 1/5 -
5-79950508-C-G DHFR c.1-200G>C - 5-UTRSNV 1/6 -
5-79950508-C-T DHFR c.1-200G>A - 5-UTRSNV 1/6 -
5-79950724-G-C DHFR c.1-416C>G - 5-UTRSNV 1/6 -
11-118343598-C-T KMT2A c.1724C>T p.A575V Missense 3/36 -
2-25470532-C-T DNMT3A c.942G>A p.W314* Nonsense 8/23 -
20-31022288-C-A ASXL1 c.1773C>A p.Y591* Nonsense 13/13 -
20-31022288-C-G ASXL1 c.1773C>G p.Y591* Nonsense 13/13 -
20-31022712-C-T ASXL1 c.2197C>T p.Q733* Nonsense 13/13 -
17-7579849-G-T TP53 c.64C>A p.L22I Missense 2/11 -
17-7577517-A-G TP53 c.764T>C p.I255T Missense 7/11 -
17-7578196-A-G TP53 c.653T>C p.V218A Missense 6/11 -
17-7578550-G-T TP53 c.380C>A p.S127Y Missense 5/11 -
10-89624271-A-C PTEN c.45A>C p.R15S Missense 1/9 -
21-44514780-C-T U2AF1 c.467G>A p.R156H Missense 6/8 -
21-44524453-C-A U2AF1 c.104G>T p.R35L Missense 2/8 -
12-112910835-A-G PTPN11 c.844A>G p.I282V Missense 7/16 -
17-7577535-C-T TP53 c.746G>A p.R249K Missense 7/11 -
17-7577567-A-C TP53 c.714T>G p.C238W Missense 7/11 -
17-7578398-G-C TP53 c.532C>G p.H178D Missense 5/11 -
17-7578442-T-G TP53 c.488A>C p.Y163S Missense 5/11 -
17-7577108-C-T TP53 c.830G>A p.C277Y Missense 8/11 -
9-21974780-A-C CDKN2A c.47T>G p.L16R Missense 1/3 -
17-74732965-C-G SRSF2 c.278G>C p.G93A Missense 1/3 -
17-7577569-A-T TP53 c.712T>A p.C238S Missense 7/11 -
2-209113217-C-T IDH1 c.290G>A p.G97D Missense 4/10 -
9-133738340-A-G ABL1 c.740A>G p.K247R Missense 4/11 -
2-198267369-G-A SF3B1 c.1988C>T p.T663I Missense 14/25 -
19-17953950-G-C JAK3 c.452C>G p.P151R Missense 5/24 -
17-7578244-C-A TP53 c.605G>T p.R202L Missense 6/11 -
17-7578409-CT-TG TP53 c.520_521delAGinsCA p.R174Q Missense 5/11 -
17-7572991-T-C TP53 c.1118A>G p.K373R Missense 11/11 -
21-36259171-C-A RUNX1 c.320G>T p.R107L Missense 4/9 -
17-7572984-C-A TP53 c.1125G>T p.Q375H Missense 11/11 -
17-7572984-C-G TP53 c.1125G>C p.Q375H Missense 11/11 -
2-198267481-T-C SF3B1 c.1876A>G p.N626D Missense 14/25 -
2-198267361-T-G SF3B1 c.1996A>C p.K666Q Missense 14/25 -
9-21974793-A-C CDKN2A c.34T>G p.S12A Missense 1/3 -
17-7578259-A-G TP53 c.590T>C p.V197A Missense 6/11 -
20-31022782-A-C ASXL1 c.2267A>C p.D756A Missense 13/13 -
21-36171607-G-A RUNX1 c.958C>T p.R320* Nonsense 8/9 -
7-148506443-C-T EZH2 c.2069G>A p.R690H Missense 18/20 -
4-106196829-T-G TET2 c.5162T>G p.L1721W Missense 11/11 -
4-106156187-C-T TET2 c.1088C>T p.P363L Missense 3/11 -
4-106156163-G-A TET2 c.1064G>A p.G355D Missense 3/11 -
4-106190839-G-A TET2 c.4117G>A p.A1373T Missense 9/11 -
4-106155185-C-G TET2 c.86C>G p.P29R Missense 3/11 -
4-106196819-G-T TET2 c.5152G>T p.V1718L Missense 11/11 -
2-25470486-A-T DNMT3A c.988T>A p.W330R Missense 8/23 -
2-25470486-A-G DNMT3A c.988T>C p.W330R Missense 8/23 -
17-7577507-T-G TP53 c.774A>C p.E258D Missense 7/11 -
7-148526867-A-G EZH2 c.437T>C p.I146T Missense 5/20 -
17-7578391-T-G TP53 c.539A>C p.E180A Missense 5/11 -
9-5065003-C-G JAK2 c.1177C>G p.L393V Missense 9/25 -
7-148506170-C-CA EZH2 c.2187dupT p.D730* Nonsense 19/20 -
17-7578437-G-T TP53 c.493C>A p.Q165K Missense 5/11 -
11-119149245-T-C CBL c.1253T>C p.F418S Missense 9/16 -
11-119149002-T-C CBL c.1222T>C p.W408R Missense 8/16 -
11-119148949-A-T CBL c.1169A>T p.D390V Missense 8/16 -
5-79950699-TGCAGCGGCTGCAGCGGCC-T MSH3 c.162_179del18 p.A57_A62del InFrameDeletion 1/24 -
5-79950741-GCCCCCAGCT-G MSH3 c.199_207delCCAGCTCCC p.P67_P69del InFrameDeletion 1/24 -
18-50432602-C-G DCC c.601C>G p.R201G Missense 3/29 -
4-106193892-C-T TET2 c.4354C>T p.R1452* Nonsense 10/11 -
17-7577123-A-C TP53 c.815T>G p.V272G Missense 8/11 -
17-7578259-A-C TP53 c.590T>G p.V197G Missense 6/11 -
17-7578475-G-T TP53 c.455C>A p.P152Q Missense 5/11 -
2-209113266-T-G IDH1 c.241A>C p.K81Q Missense 4/10 -
17-41244576-T-C BRCA1 c.2972A>G p.K991R Missense 10/23 -
X-32380996-C-T DMD c.5234G>A p.R1745H Missense 37/79 -
20-31023472-A-G ASXL1 c.2957A>G p.N986S Missense 13/13 -
21-44514771-T-C U2AF1 c.476A>G p.E159G Missense 6/8 -
7-151921255-C-T KMT2C c.3168G>A p.W1056* Nonsense 20/59 -
17-7578236-A-T TP53 c.613T>A p.Y205N Missense 6/11 -
7-151962265-C-T KMT2C c.1042G>A p.D348N Missense 8/59 -
17-7573965-C-A TP53 c.1062G>T p.Q354H Missense 10/11 -
8-117868486-G-T RAD21 c.856C>A p.P286T Missense 8/14 -
12-25380262-C-A KRAS c.196G>T p.A66S Missense 3/5 -
2-25467448-C-G DNMT3A c.1628G>C p.G543A Missense 14/23 -
11-533874-T-G HRAS c.182A>C p.Q61P Missense 3/6 -
17-7574002-CG-C TP53 c.1024delC p.R342Efs*3 Frameshift 10/11 -
12-133220098-CCA-C POLE c.4337_4338delTG p.V1446Gfs*3 Frameshift 34/49 -
17-7578526-CA-C TP53 c.403delT p.C135Afs*35 Frameshift 5/11 -
17-7579840-G-GT TP53 c.72_72dupA p.L25Tfs*4 Frameshift 2/11 -
2-25505430-G-GC DNMT3A c.327_327dupG p.Q110Afs*14 Frameshift 4/23 -
20-31022441-AG-A ASXL1 c.1934delG p.G645Vfs*58 Frameshift 13/13 -
15-90631917-T-TC IDH2 c.435_435dupG p.T146Dfs*126 Frameshift 4/11 -
17-7578212-G-GA TP53 c.636_636dupT p.R213Sfs*3 Frameshift 6/11 -
12-25398327-G-A KRAS c.1-9C>T - 5-UTRSNV 2/5 -
22-23522804-G-C BCR c.1-344G>C - 5-UTRSNV 1/23 -
9-139390944-TGTG-T NOTCH1 c.7244_7246delCAC p.P2415del InFrameDeletion 34/34 -
17-7578441-G-C TP53 c.489C>G p.Y163* Nonsense 5/11 -
19-33793146-C-A CEBPA c.175G>T p.E59* Nonsense 1/1 -
X-15827389-C-T ZRSR2 c.505C>T p.R169* Nonsense 7/11 -
X-15841268-G-A ZRSR2 c.1352G>A p.R451H Missense 11/11 -
21-36259173-C-A RUNX1 c.318G>T p.W106C Missense 4/9 -
21-36259312-G-A RUNX1 c.179C>T p.A60V Missense 4/9 -
13-39264690-T-C FREM2 c.3209T>C p.F1070S Missense 1/24 -
X-123195704-G-T STAG2 c.1618G>T p.G540* Nonsense 17/35 -
1-243328887-G-T CEP170 c.2375C>A p.S792* Nonsense 13/20 -
11-108201023-T-C ATM c.7390T>C p.C2464R Missense 50/63 -
11-108203619-C-T ATM c.7919C>T p.T2640I Missense 53/63 -
17-7572963-T-G TP53 c.1146A>C p.K382N Missense 11/11 -
17-7579514-G-A TP53 c.173C>T p.P58L Missense 4/11 -
17-7578404-A-C TP53 c.526T>G p.C176G Missense 5/11 -
17-7577594-A-T TP53 c.687T>A p.C229* Nonsense 7/11 -
17-7577030-C-T TP53 c.908G>A p.S303N Missense 8/11 -
17-7579407-A-G TP53 c.280T>C p.S94P Missense 4/11 -
2-198267360-T-C SF3B1 c.1997A>G p.K666R Missense 14/25 -
7-151970859-C-T KMT2C c.943G>A p.G315S Missense 7/59 -
8-133882068-G-GC TG c.272dupC p.C92Lfs*19 SpliceDonorInsertion 3/48 -
21-36231783-G-A RUNX1 c.601C>T p.R201* Nonsense 6/9 -
4-106190872-G-C TET2 c.4150G>C p.D1384H Missense 9/11 -
4-106196474-C-T TET2 c.4807C>T p.Q1603* Nonsense 11/11 -
5-112175576-C-T APC c.4285C>T p.Q1429* Nonsense 16/16 -
9-21971110-T-C CDKN2A c.248A>G p.H83R Missense 2/3 -
9-21971111-G-C CDKN2A c.247C>G p.H83D Missense 2/3 -
2-25463307-C-T DNMT3A c.2186G>A p.R729Q Missense 19/23 -
7-148508727-T-G EZH2 c.1937A>C p.Y646S Missense 16/20 -
22-29885016-G-A NEFH c.1387G>A p.E463K Missense 4/4 -
17-7577517-A-C TP53 c.764T>G p.I255S Missense 7/11 -
22-23524386-C-G BCR c.1239C>G p.I413M Missense 1/23 -
20-31024488-C-T ASXL1 c.3973C>T p.L1325F Missense 13/13 -
17-7579346-A-T TP53 c.341T>A p.L114* Nonsense 4/11 -
17-7573948-C-A TP53 c.1079G>T p.G360V Missense 10/11 -
17-7578460-A-C TP53 c.470T>G p.V157G Missense 5/11 -
12-112888211-A-G PTPN11 c.227A>G p.E76G Missense 3/16 -
2-198267483-C-A SF3B1 c.1874G>T p.R625L Missense 14/25 -
17-7577593-T-G TP53 c.688A>C p.T230P Missense 7/11 -
17-7573996-A-C TP53 c.1031T>G p.L344R Missense 10/11 -
17-7578412-A-C TP53 c.518T>G p.V173G Missense 5/11 -
17-7578499-T-G TP53 c.431A>C p.Q144P Missense 5/11 -
17-7577096-T-G TP53 c.842A>C p.D281A Missense 8/11 -
17-7578202-A-C TP53 c.647T>G p.V216G Missense 6/11 -
17-7578395-G-T TP53 c.535C>A p.H179N Missense 5/11 -
17-7577575-A-T TP53 c.706T>A p.Y236N Missense 7/11 -
17-7578268-A-T TP53 c.581T>A p.L194H Missense 6/11 -
17-7579494-T-A TP53 c.193A>T p.R65* Nonsense 4/11 -
17-7579355-A-C TP53 c.332T>G p.L111R Missense 4/11 -
17-7579314-T-G TP53 c.373A>C p.T125P Missense 4/11 -
17-7577565-T-G TP53 c.716A>C p.N239T Missense 7/11 -
17-7578508-C-G TP53 c.422G>C p.C141S Missense 5/11 -
17-7577571-A-T TP53 c.710T>A p.M237K Missense 7/11 -
5-137801515-C-T EGR1 c.65C>T p.S22F Missense 1/2 -
13-39430314-C-T FREM2 c.6977C>T p.T2326I Missense 12/24 -
11-119149355-TATG-T CBL c.1380_1382delTGA p.D460del InFrameDeletion 9/16 -
17-29556328-T-G NF1 c.2695T>G p.L899V Missense 21/58 -
17-7578263-G-C TP53 c.586C>G p.R196G Missense 6/11 -
10-27389197-T-C ANKRD26 c.59A>G p.Q20R Missense 1/34 -
7-151945204-G-A KMT2C c.2315C>T p.S772L Missense 14/59 -
X-76937963-G-C ATRX c.2785C>G p.Q929E Missense 9/35 -
X-76937963-G-T ATRX c.2785C>A p.Q929K Missense 9/35 -
12-12037502-G-C ETV6 c.1133G>C p.R378P Missense 6/8 -
9-21971137-T-G CDKN2A c.221A>C p.D74A Missense 2/3 -
7-151970856-T-A KMT2C c.946A>T p.T316S Missense 7/59 -
8-117870624-C-T RAD21 c.448G>A p.G150R Missense 5/14 -
13-39266484-G-A FREM2 c.5003G>A p.R1668H Missense 1/24 -
9-139413097-T-G NOTCH1 c.1045A>C p.T349P Missense 6/34 -
13-39343822-C-T FREM2 c.5518C>T p.R1840W Missense 4/24 -
X-123196997-T-A STAG2 c.1763T>A p.L588* Nonsense 19/35 -
10-70332580-A-G TET1 c.485A>G p.D162G Missense 2/12 -
5-140480852-G-A PCDHB3 c.619G>A p.E207K Missense 1/1 -
4-106156465-G-A TET2 c.1366G>A p.E456K Missense 3/11 -
7-151949068-C-G KMT2C c.1577G>C p.R526P Missense 11/59 -
4-106157703-T-G TET2 c.2604T>G p.F868L Missense 3/11 -
20-31022959-T-C ASXL1 c.2444T>C p.P815P Missense 13/13 -
19-1615796-G-A TCF3 c.1475C>T p.A492V Missense 17/19 -
5-137801493-C-T EGR1 c.43C>T p.Q15* Nonsense 1/2 -
9-139417464-T-G NOTCH1 c.580A>C p.T194P Missense 4/34 -
21-36252880-A-G RUNX1 c.482T>C p.L161P Missense 5/9 -
12-12022390-G-A ETV6 c.496G>A p.V166M Missense 5/8 -
13-39263714-T-C FREM2 c.2233T>C p.P745P Missense 1/24 -
1-243329049-G-A CEP170 c.2213C>T p.T738I Missense 13/20 -
3-100963154-G-A IMPG2 c.2021C>T p.T674I Missense 13/19 -
5-140481475-A-T PCDHB3 c.1242A>T p.R414S Missense 1/1 -
20-31024797-T-C ASXL1 c.4282T>C p.S1428P Missense 13/13 -
22-23523285-G-T BCR c.138G>T p.E46D Missense 1/23 -
X-39937122-G-A BCOR c.61C>T p.R21C Missense 2/15 -
5-137802800-A-G EGR1 c.662A>G p.Q221R Missense 2/2 -
8-133894765-A-G TG c.797A>G p.D266G Missense 7/48 -
22-23627369-A-G BCR c.2387A>G p.N796S Missense 10/23 -
10-70405855-A-G TET1 c.3369A>G p.I1123M Missense 4/12 -
17-45234430-A-G CDC27 c.691T>C p.S231P Missense 7/19 -
4-106155751-G-A TET2 c.652G>A p.V218M Missense 3/11 -
5-137802659-C-T EGR1 c.521C>T p.A174V Missense 2/2 -
18-49867224-T-C DCC c.67T>C p.F23L Missense 1/29 -
10-27342285-CTCT-C ANKRD26 c.1596_1598delAGA p.E533del InFrameDeletion 16/34 -
11-5068137-G-A OR52J3 c.382G>A p.V128I Missense 1/1 -
22-29885858-AGCTAAGTCCCCAGAGAAG-A NEFH c.2232_2249del18 p.S752_K757del InFrameDeletion 4/4 -
16-23646191-T-C PALB2 c.1676A>G p.Q559R Missense 4/13 -
12-133220526-T-C POLE c.4187A>G p.N1396S Missense 33/49 -
11-5067984-A-G OR52J3 c.229A>G p.T77A Missense 1/1 -
X-31496350-C-T DMD c.8810G>A p.R2937Q Missense 59/79 -
10-27303605-A-T ANKRD26 c.4542T>A p.F1514L Missense 31/34 -
10-27317840-C-T ANKRD26 c.3913G>A p.V1305I Missense 27/34 -
11-5068177-A-T OR52J3 c.422A>T p.Q141L Missense 1/1 -
5-140476653-G-A PCDHB2 c.2279G>A p.G760D Missense 1/1 -
10-27322303-C-G ANKRD26 c.3658G>C p.V1220L Missense 25/34 -
10-70332672-T-A TET1 c.577T>A p.S193T Missense 2/12 -
9-139401233-C-T NOTCH1 c.3836G>A p.R1279H Missense 23/34 -
7-148513816-C-T EZH2 c.1465G>A p.D489N Missense 12/20 -
12-133253995-G-A POLE c.755C>T p.A252V Missense 8/49 -
2-192701265-T-C CAVIN2 c.662A>G p.E221G Missense 2/2 -
2-192701301-G-T CAVIN2 c.626C>A p.P209H Missense 2/2 -
X-32503194-T-A DMD c.2645A>T p.D882V Missense 21/79 -
X-32503194-T-C DMD c.2645A>G p.D882G Missense 21/79 -
X-32509625-A-C DMD c.2391T>G p.N797K Missense 20/79 -
7-151859683-G-A KMT2C c.10979C>T p.S3660L Missense 43/59 -
13-28623587-C-T FLT3 c.970G>A p.D324N Missense 8/24 -
4-106196770-G-A TET2 c.5103G>A p.M1701I Missense 11/11 -
4-106158350-A-C TET2 c.3251A>C p.Q1084P Missense 3/11 -
4-106155199-C-T TET2 c.100C>T p.L34F Missense 3/11 -
14-75513463-A-G MLH3 c.2896T>C p.S966P Missense 2/13 -
17-7574021-C-T TP53 c.1006G>A p.E336K Missense 10/11 -
5-140480475-C-T PCDHB3 c.242C>T p.T81I Missense 1/1 -
19-17945696-C-T JAK3 c.2164G>A p.V722I Missense 16/24 -
12-25380282-G-T KRAS c.176C>A p.A59E Missense 3/5 -
12-112888195-T-C PTPN11 c.211T>C p.F71L Missense 3/16 -
11-119148991-G-A CBL c.1211G>A p.C404Y Missense 8/16 -
17-7577502-G-T TP53 c.779C>A p.S260Y Missense 7/11 -
17-7572980-T-G TP53 c.1129A>C p.T377P Missense 11/11 -
15-40477831-G-A BUB1B c.1046G>A p.R349Q Missense 8/23 -
4-55139771-T-C PDGFRA c.1432T>C p.S478P Missense 10/23 -
7-151859899-G-A KMT2C c.10763C>T p.S3588L Missense 43/59 -
11-118307496-C-T KMT2A c.269C>T p.S90L Missense 1/36 -
19-856130-C-T ELANE c.770C>T p.P257L Missense 5/5 -
9-5126715-A-G JAK2 c.3323A>G p.N1108S Missense 25/25 -
10-70332862-C-T TET1 c.767C>T p.A256V Missense 2/12 -
9-139391338-C-T NOTCH1 c.6853G>A p.V2285I Missense 34/34 -
21-36164521-C-T RUNX1 c.1354G>A p.V452M Missense 9/9 -
9-133760592-C-T ABL1 c.2915C>T p.S972L Missense 11/11 -
2-25497826-G-A DNMT3A c.623C>T p.A208V Missense 6/23 -
2-25469166-G-A DNMT3A c.1292C>T p.P431L Missense 11/23 -
20-31383238-G-A DNMT3B c.1150G>A p.A384T Missense 11/23 -
20-31022766-G-A ASXL1 c.2251G>A p.V751I Missense 13/13 -
16-3831230-G-T CREBBP c.1651C>A p.L551I Missense 7/31 -
4-106156349-A-G TET2 c.1250A>G p.Q417R Missense 3/11 -
X-76938153-G-C ATRX c.2595C>G p.H865Q Missense 9/35 -
5-137802771-G-A EGR1 c.633G>A p.T211= Synonymous 2/2 -
17-29657472-C-T NF1 c.5768C>T p.T1923M Missense 39/58 -
5-137802829-A-T EGR1 c.691A>T p.T231S Missense 2/2 -
5-112163683-G-T APC c.1606G>T p.E536* Nonsense 13/16 -
5-137803166-A-C EGR1 c.1028A>C p.E343A Missense 2/2 -
17-29667530-C-T NF1 c.6929C>T p.P2310L Missense 47/58 -
17-29496957-T-A NF1 c.528T>A p.D176E Missense 5/58 -
X-123195691-T-A STAG2 c.1605T>A p.C535* Nonsense 17/35 -
X-123205099-C-T STAG2 c.2459C>T p.S820L Missense 25/35 -
17-29686006-G-T NF1 c.8133G>T p.L2711F Missense 56/58 -
17-29686010-C-G NF1 c.8137C>G p.R2713G Missense 56/58 -
17-29686013-T-G NF1 c.8140T>G p.F2714V Missense 56/58 -
13-28592645-G-C FLT3 c.2500C>G p.R834G Missense 20/24 -
21-36259271-C-T RUNX1 c.220G>A p.G74S Missense 4/9 -
7-151902197-C-G KMT2C c.3955G>C p.D1319H Missense 25/59 -
7-151860230-G-C KMT2C c.10432C>G p.Q3478E Missense 43/59 -
2-25468174-T-C DNMT3A c.1502A>G p.N501S Missense 13/23 -
2-209113325-G-T IDH1 c.182C>A p.A61E Missense 4/10 -
17-7578460-A-G TP53 c.470T>C p.V157A Missense 5/11 -
4-106164914-G-A TET2 c.3782G>A p.R1261H Missense 6/11 -
X-76890145-C-A ATRX c.4749G>T p.K1583N Missense 17/35 -
7-151877127-G-T KMT2C c.7234C>A p.P2412T Missense 37/59 -
X-31893307-T-G DMD c.7096A>C p.K2366Q Missense 48/79 -
21-36253000-A-C RUNX1 c.362T>G p.L121R Missense 5/9 -
7-151949735-T-C KMT2C c.1365A>G p.I455M Missense 10/59 -
7-55221739-G-T EGFR c.783G>T p.K261N Missense 7/28 -
13-28592629-T-C FLT3 c.2516A>G p.D839G Missense 20/24 -
13-28602341-T-G FLT3 c.2027A>C p.N676T Missense 16/24 -
12-112888166-A-T PTPN11 c.182A>T p.D61V Missense 3/16 -
12-112888163-G-T PTPN11 c.179G>T p.G60V Missense 3/16 -
11-108165658-T-C ATM c.4781T>C p.I1594T Missense 32/63 -
7-101747698-G-T CUX1 c.489G>T p.E163D Missense 6/24 -
7-101747731-A-T CUX1 c.522A>T p.E174D Missense 6/24 -
7-101740759-A-T CUX1 c.384A>T p.E128D Missense 5/24 -
5-112175255-G-T APC c.3964G>T p.E1322* Nonsense 16/16 -
17-7576870-C-A TP53 c.976G>T p.E326* Nonsense 9/11 -
13-32914046-G-A BRCA2 c.5554G>A p.V1852I Missense 11/27 -
4-106164772-C-T TET2 c.3640C>T p.R1214W Missense 6/11 -
19-33792754-GGGC-G CEBPA c.564_566delGCC p.P189del InFrameDeletion 1/1 -
19-33793233-C-G CEBPA c.88G>C p.A30P Missense 1/1 -
17-7573991-C-T TP53 c.1036G>A p.E346K Missense 10/11 -
17-7579424-G-T TP53 c.263C>A p.A88D Missense 4/11 -
17-7579505-T-G TP53 c.182A>C p.D61A Missense 4/11 -
14-75513243-G-A MLH3 c.3116C>T p.T1039M Missense 2/13 -
17-41223031-T-C BRCA1 c.4900A>G p.R1634G Missense 15/23 -
17-41246023-T-C BRCA1 c.1525A>G p.T509A Missense 10/23 -
17-45234327-C-T CDC27 c.794G>A p.G265D Missense 7/19 -
2-25457192-G-A DNMT3A c.2695C>T p.R899C Missense 23/23 -
2-25464537-C-T DNMT3A c.1976G>A p.R659H Missense 17/23 -
2-25467449-C-A DNMT3A c.1627G>T p.G543C Missense 14/23 -
2-25470498-G-A DNMT3A c.976C>T p.R326C Missense 8/23 -
2-25470536-C-T DNMT3A c.938G>A p.W313* Nonsense 8/23 -
2-25470908-C-A DNMT3A c.853G>T p.E285* Nonsense 7/23 -
17-74732935-CGGCGGCTGTGGTGTGAGTCCGGGG-C SRSF2 c.284_307del24 p.P95_R102del InFrameDeletion 1/3 -
17-7578418-T-C TP53 c.512A>G p.E171G Missense 5/11 -
17-7578251-T-C TP53 c.598A>G p.N200D Missense 6/11 -
2-198267371-G-C SF3B1 c.1986C>G p.H662Q Missense 14/25 -
17-7579492-TCT-ATG TP53 c.193_195delAGAinsCAT p.R65H Missense 4/11 -
20-31023131-C-A ASXL1 c.2616C>A p.C872* Nonsense 13/13 -
7-148543653-C-A EZH2 c.155G>T p.R52I Missense 3/20 -
21-36164880-T-C RUNX1 c.995A>G p.D332G Missense 9/9 -
17-7579382-G-T TP53 c.305C>A p.T102N Missense 4/11 -
21-36206845-C-A RUNX1 c.667G>T p.E223* Nonsense 7/9 -
21-36206893-G-A RUNX1 c.619C>T p.R207W Missense 7/9 -
21-36231774-G-A RUNX1 c.610C>T p.R204* Nonsense 6/9 -
21-36231782-C-T RUNX1 c.602G>A p.R201Q Missense 6/9 -
21-36231792-C-T RUNX1 c.592G>A p.D198N Missense 6/9 -
21-36252878-T-A RUNX1 c.484A>T p.R162W Missense 5/9 -
21-36252878-T-C RUNX1 c.484A>G p.R162G Missense 5/9 -
21-36252940-G-T RUNX1 c.422C>A p.S141* Nonsense 5/9 -
21-36259172-G-A RUNX1 c.319C>T p.R107C Missense 4/9 -
17-29657409-C-T NF1 c.5705C>T p.A1902V Missense 39/58 -
3-128202759-G-A GATA2 c.961C>T p.L321F Missense 4/6 -
4-106156478-C-T TET2 c.1379C>T p.S460F Missense 3/11 -
4-106156729-C-T TET2 c.1630C>T p.R544* Nonsense 3/11 -
4-106157323-C-T TET2 c.2224C>T p.Q742* Nonsense 3/11 -
4-106157371-C-T TET2 c.2272C>T p.Q758* Nonsense 3/11 -
4-106157845-C-T TET2 c.2746C>T p.Q916* Nonsense 3/11 -
4-106158286-A-T TET2 c.3187A>T p.T1063S Missense 3/11 -
4-106158287-C-A TET2 c.3188C>A p.T1063K Missense 3/11 -
4-106164778-C-T TET2 c.3646C>T p.R1216* Nonsense 6/11 -
4-106190818-C-A TET2 c.4096C>A p.R1366S Missense 9/11 -
4-106197104-C-T TET2 c.5437C>T p.Q1813* Nonsense 11/11 -
2-198267303-C-A SF3B1 c.2054G>T p.S685I Missense 14/25 -
2-209108317-C-T IDH1 c.532G>A p.V178I Missense 6/10 -
9-5073764-G-T JAK2 c.1843G>T p.V615L Missense 14/25 -
5-170837534-A-T NPM1 c.850A>T p.I284F Missense 11/11 -
9-139399408-GCAC-G NOTCH1 c.4732_4734delGTG p.V1578del InFrameDeletion 26/34 -
4-106157698-T-C TET2 c.2599T>C p.Y867H Missense 3/11 -
5-170837555-A-G NPM1 c.871A>G p.R291G Missense 11/11 -
20-31025037-T-G ASXL1 c.4522T>G p.C1508G Missense 13/13 -
19-33792753-A-G CEBPA c.568T>C p.S190P Missense 1/1 -
7-50450292-A-G IKZF1 c.476A>G p.N159S missense_variant 5/8 -
2-47637359-T-G MSH2 c.493T>G p.Y165D Missense 3/16 -
2-48010431-C-T MSH6 c.59C>T p.A20V Missense 1/10 -
16-23646857-A-G PALB2 c.1010T>C p.L337S Missense 4/13 -
7-6026530-C-T PMS2 c.1866G>A p.M622I Missense 11/15 -
7-148511155-G-A EZH2 c.1747C>T p.R583* Nonsense 15/20 -
7-148512065-G-A EZH2 c.1613C>T p.S538L Missense 14/20 -
10-89692907-A-T PTEN c.391A>T p.T131S Missense 5/9 -
17-7572989-C-G TP53 c.1120G>C p.G374R Missense 11/11 -
17-7579892-A-T TP53 c.21T>A p.D7E Missense 2/11 -
13-28608281-A-T FLT3 c.1775T>A p.V592D Missense 14/24 -
13-28592641-T-G FLT3 c.2504A>C p.D835A Missense 20/24 -
1-24978928-C-A SRRM1 c.729C>A p.D243E Missense 7/17 -
1-36932143-G-A CSF3R c.2326C>T p.L776F Missense 17/17 -
1-43818431-G-C MPL c.1896G>C p.W632C Missense 12/12 -
4-106164028-G-T TET2 c.3538G>T p.V1180F Missense 5/11 -
X-15822297-C-T ZRSR2 c.376C>T p.R126* Nonsense 5/11 -
X-15838385-C-T ZRSR2 c.883C>T p.R295* Nonsense 10/11 -
4-106155329-A-C TET2 c.230A>C p.D77A Missense 3/11 -
8-133880372-A-G TG c.80A>G p.D27G Missense 2/48 -
X-123205110-G-T STAG2 c.2470G>T p.E824* Nonsense 25/35 -
X-123171416-C-T STAG2 c.328C>T p.R110* Nonsense 6/35 -
4-106196324-C-A TET2 c.4657C>A p.Q1553K Missense 11/11 -
11-32417910-G-T WT1 c.1142C>A p.S386* Nonsense 7/10 -
11-32417914-G-C WT1 c.1138C>G p.R385G Missense 7/10 -
8-133881978-G-A TG c.181G>A p.V61I Missense 3/48 -
X-123205146-G-T STAG2 c.2506G>T p.E836* Nonsense 25/35 -
11-119148931-G-T CBL c.1151G>T p.C384F Missense 8/16 -
2-25464568-C-A DNMT3A c.1945G>T p.V649L Missense 17/23 -
12-112888165-G-C PTPN11 c.181G>C p.D61H Missense 3/16 -
12-112915455-T-C PTPN11 c.854T>C p.F285S Missense 8/16 -
12-112926888-G-A PTPN11 c.1508G>A p.G503E Missense 13/16 -
17-7579714-C-T TP53 c.82G>A p.E28K Missense 3/11 -
4-55127293-A-C PDGFRA c.81A>C p.L27F Missense 3/23 -
4-55593464-A-G KIT c.1621A>G p.M541V Missense 10/21 -
10-89720659-G-T PTEN c.810G>T p.M270I Missense 8/9 -
7-151962226-T-C KMT2C c.1081A>G p.T361A Missense 8/59 -
5-137801634-A-C EGR1 c.184A>C p.S62R Missense 1/2 -
1-24996787-C-T SRRM1 c.2381C>T p.P794L Missense 15/17 -
4-106164052-A-T TET2 c.3562A>T p.K1188* Nonsense 5/11 -
5-137802577-A-C EGR1 c.439A>C p.N147H Missense 2/2 -
2-25497908-G-A DNMT3A c.541C>T p.R181C Missense 6/23 -
X-123217337-G-T STAG2 c.2991G>T p.L997F Missense 29/35 -
10-70332355-C-G TET1 c.260C>G p.T87S Missense 2/12 -
4-106190900-C-T TET2 c.4178C>T p.T1393I Missense 9/11 -
2-25463583-G-A DNMT3A c.2099C>T p.P700L Missense 18/23 -
7-151902265-C-T KMT2C c.3887G>A p.G1296E Missense 25/59 -
16-3900384-C-T CREBBP c.712G>A p.V238M Missense 2/31 -
2-198266709-C-A SF3B1 c.2223G>T p.K741N Missense 15/25 -
17-7578415-A-C TP53 c.515T>G p.V172G Missense 5/11 -
21-36164605-A-G RUNX1 c.1270T>C p.S424P Missense 9/9 -
9-5073762-G-T JAK2 c.1841G>T p.G614V Missense 14/25 -
7-148508723-A-C EZH2 c.1941T>G p.C647W Missense 16/20 -
7-148543617-C-T EZH2 c.191G>A p.R64K Missense 3/20 -
X-39934364-G-C BCOR c.235C>G p.R79G Missense 4/15 -
17-7578547-G-A TP53 c.383C>T p.P128L Missense 5/11 -
16-3777897-T-G CREBBP c.7151A>C p.H2384P Missense 31/31 -
11-118307413-CGCG-C KMT2A c.200_202delCGG p.A67del InFrameDeletion 1/36 -
10-112356299-A-G SMC3 c.2107A>G p.N703D Missense 19/29 -
7-152055751-A-C KMT2C c.171T>G p.S57R Missense 2/59 -
2-25505330-C-T DNMT3A c.428G>A p.R143Q Missense 4/23 -
12-53207583-C-CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCAG KRT4 c.259_260insCTGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG p.G86_G87insAGGFGAGFGTGGFG InFrameInsertion 1/9 -
12-53207583-C-CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG KRT4 c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG p.G86_G87insAGGFGAGFGTGGFG InFrameInsertion 1/9 -
12-53207583-C-CCACCAAAGCCACCAGTGCCGAAACCAGCTCTGAAGCCGCCGG KRT4 c.259_260insCCGGCGGCTTCAGAGCTGGTTTCGGCACTGGTGGCTTTGGTG p.G86_G87insAGGFRAGFGTGGFG InFrameInsertion 1/9 -
9-139397746-A-T NOTCH1 c.5055T>A p.C1685* Nonsense 27/34 -
20-31022289-C-T ASXL1 c.1774C>T p.Q592* Nonsense 13/13 -
10-70332477-G-T TET1 c.382G>T p.V128F Missense 2/12 -
4-106197378-A-G TET2 c.5711A>G p.H1904R Missense 11/11 -
5-137803382-C-T EGR1 c.1244C>T p.T415I Missense 2/2 -
19-17945501-C-A JAK3 c.2229G>T p.Q743H Missense 17/24 -
19-17945501-C-G JAK3 c.2229G>C p.Q743H Missense 17/24 -
9-139405649-C-T NOTCH1 c.2542G>A p.E848K Missense 16/34 -
2-209113181-C-T IDH1 c.326G>A p.R109K Missense 4/10 -
2-198266500-G-C SF3B1 c.2336C>G p.S779C Missense 16/25 -
17-7573983-C-A TP53 c.1044G>T p.L348F Missense 10/11 -
7-151874147-CT-C KMT2C c.8390delA p.K2797Rfs*26 Frameshift 38/59 -
17-7577057-TC-T TP53 c.880delG p.E294Sfs*51 Frameshift 8/11 -
17-7572941-GC-G TP53 c.1167delG p.P390Lfs*32 Frameshift 11/11 -
17-7578397-T-TG TP53 c.532dupC p.H178Pfs*3 Frameshift 5/11 -
17-7578397-TG-T TP53 c.532delC p.H178Tfs*69 Frameshift 5/11 -
17-7578231-CA-C TP53 c.617delT p.L206Wfs*41 Frameshift 6/11 -
17-7578474-CG-C TP53 c.455delC p.P152Rfs*18 Frameshift 5/11 -
17-7579709-GT-G TP53 c.86delA p.N29Tfs*15 Frameshift 3/11 -
X-15821895-TA-T ZRSR2 c.294delA p.K98Nfs*10 Frameshift 4/11 -
4-72631258-A-AG GC c.363dupC p.C122Lfs*21 Frameshift 4/13 -
17-7572990-CT-C TP53 c.1118delA p.K373Rfs*49 Frameshift 11/11 -
17-7573943-TC-T TP53 c.1083delG p.S362Afs*8 Frameshift 10/11 -
17-7576896-TG-T TP53 c.949delC p.Q317Sfs*28 Frameshift 9/11 -
17-7579409-AG-A TP53 c.277delC p.L93Cfs*30 Frameshift 4/11 -
17-7578191-AG-A TP53 c.657delC p.Y220Mfs*27 Frameshift 6/11 -
17-7578463-CG-C TP53 c.466delC p.R156Afs*14 Frameshift 5/11 -
17-7579854-GA-G TP53 c.58delT p.S20Qfs*24 Frameshift 2/11 -
17-7578541-AG-A TP53 c.388delC p.L130Sfs*40 Frameshift 5/11 -
17-7578546-AG-A TP53 c.383delC p.P128Lfs*42 Frameshift 5/11 -
17-7579470-CG-C TP53 c.216delC p.V73Wfs*50 Frameshift 4/11 -
17-7579382-GT-G TP53 c.304delA p.T102Pfs*21 Frameshift 4/11 -
17-7579546-CG-C TP53 c.140delC p.P47Rfs*76 Frameshift 4/11 -
17-7579432-AG-A TP53 c.254delC p.P85Lfs*38 Frameshift 4/11 -
17-7579432-AGG-A TP53 c.253_254delCC p.P85Cfs*63 Frameshift 4/11 -
17-7579579-CG-C TP53 c.107delC p.P36Rfs*8 Frameshift 4/11 -
17-7579462-AG-A TP53 c.224delC p.P75Lfs*48 Frameshift 4/11 -
17-7579584-AG-A TP53 c.102delC p.L35Cfs*9 Frameshift 4/11 -
17-7579513-TG-T TP53 c.173delC p.P58Qfs*65 Frameshift 4/11 -
17-7579874-AG-A TP53 c.38delC p.P13Lfs*2 Frameshift 2/11 -
2-198267396-CT-C SF3B1 c.1960delA p.S654Afs*18 Frameshift 14/25 -
9-139390735-AG-A NOTCH1 c.7455delC p.S2486Rfs*103 Frameshift 34/34 -
9-139391206-TC-T NOTCH1 c.6984delG p.S2329Vfs*7 Frameshift 34/34 -
17-7572962-GT-G TP53 c.1146delA p.K382Nfs*40 Frameshift 11/11 -
17-7578504-AG-A TP53 c.425delC p.P142Lfs*28 Frameshift 5/11 -
17-7577035-TG-T TP53 c.902delC p.P301Qfs*44 Frameshift 8/11 -
8-133899200-TC-T TG c.1583delC p.S528* Frameshift 9/48 -
4-106196278-GC-G TET2 c.4615delC p.Q1539Sfs*32 Frameshift 11/11 -
17-7577594-ACAGT-A TP53 c.683_686delACTG p.D228Vfs*18 Frameshift 7/11 -
17-7578276-AG-A TP53 c.572delC p.P191Lfs*56 Frameshift 6/11 -
5-170837545-C-CTGCA NPM1 c.863_864insCATG p.W288Cfs*12 Frameshift 11/11 -
5-170837544-T-TCTGC NPM1 c.863_864insCCTG p.W288Cfs*12 Frameshift 11/11 -
5-170837545-C-CTGCT NPM1 c.863_864insCTTG p.W288Cfs*12 Frameshift 11/11 -
19-13054615-AG-A CALR c.1144delG p.A382Qfs*48 Frameshift 9/9 -
19-33793073-T-TG CEBPA c.247_247dupC p.Q83Pfs*25 Frameshift 1/1 -
19-33793203-CG-C CEBPA c.117delC p.A40Rfs*120 Frameshift 1/1 -
19-33793252-C-CG CEBPA c.68_68dupC p.H24Afs*84 Frameshift 1/1 -
2-25470579-TC-T DNMT3A c.894delG p.K299Nfs*17 Frameshift 8/23 -
2-25463561-GC-G DNMT3A c.2120delG p.G707Afs*72 Frameshift 18/23 -
2-25469090-CT-C DNMT3A c.1367delA p.K456Sfs*195 Frameshift 11/23 -
2-25523008-CG-C DNMT3A c.176delC p.P59Rfs*13 Frameshift 3/23 -
17-7579566-TCC-T TP53 c.120_121delGG p.M40Ifs*2 Frameshift 4/11 -
20-31022441-AGG-A ASXL1 c.1933_1934delGG p.G645Wfs*12 Frameshift 13/13 -
20-31023045-AC-A ASXL1 c.2535delC p.S846Vfs*21 Frameshift 13/13 -
20-31022402-TCACCACTGCCATAGAGAGGCGGC-T ASXL1 c.1900_1922del23 p.E635Rfs*15 Frameshift 13/13 -
20-31022572-AGT-A ASXL1 c.2060_2061delGT p.C687Yfs*30 Frameshift 13/13 -
21-36164729-C-CG RUNX1 c.1145_1145dupC p.P383Afs*217 Frameshift 9/9 -
3-128200705-T-TC GATA2 c.1099_1099dupG p.D367Gfs*17 Frameshift 5/6 -
2-25470568-GC-G DNMT3A c.905delG p.G302Afs*14 Frameshift 8/23 -
4-106156042-TC-T TET2 c.945delC p.Q317Rfs*30 Frameshift 3/11 -
4-106156432-CT-C TET2 c.1337delT p.L446* Frameshift 3/11 -
4-106197035-CT-C TET2 c.5371delT p.S1791Pfs*29 Frameshift 11/11 -
7-148515089-T-TG EZH2 c.1119_1119dupC p.T374Hfs*3 Frameshift 10/20 -
X-15809095-G-GA ZRSR2 c.83_83dupA p.K29Efs*26 Frameshift 2/11 -
14-75514337-AT-A MLH3 c.2021delA p.N674Ifs*6 Frameshift 2/13 -
4-106157583-C-CA TET2 c.2488dupA p.I830Nfs*16 Frameshift 3/11 -
4-106155921-TC-T TET2 c.822delC p.N275Ifs*18 Frameshift 3/11 -
17-7577140-TC-T TP53 c.797delG p.G266Dfs*79 Frameshift 8/11 -
12-53207583-C-CCACCAAAGCCACCAGTGCCGAAACCCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG KRT4 c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTGGGTTTCGGCACTGGTGGCTTTGGTG p.G87Afs*32 Frameshift 1/9 -
2-198267705-C-T SF3B1 c.1774G>A p.E592K Missense 13/25 -
2-198267491-C-G SF3B1 c.1866G>C p.E622D Missense 14/25 -
2-198267491-C-A SF3B1 c.1866G>T p.E622D Missense 14/25 -
2-198267371-G-T SF3B1 c.1986C>A p.H662Q Missense 14/25 -
9-5070008-A-T JAK2 c.1597A>T p.N533Y Missense 12/25 -
17-7579384-T-G TP53 c.303A>C p.K101N Missense 4/11 -
17-7578467-T-A TP53 c.463A>T p.T155S Missense 5/11 -
13-28592641-T-C FLT3 c.2504A>G p.D835G Missense 20/24 -
9-21974681-A-G CDKN2A c.146T>C p.I49T Missense 1/3 -
4-106156625-C-G TET2 c.1526C>G p.S509* Nonsense 3/11 -
4-106197285-T-C TET2 c.5618T>C p.I1873T Missense 11/11 -
17-7578434-A-C TP53 c.496T>G p.S166A Missense 5/11 -
17-7573000-T-C TP53 c.1109A>G p.K370R Missense 11/11 -
17-7572994-T-C TP53 c.1115A>G p.K372R Missense 11/11 -
17-7578398-G-A TP53 c.532C>T p.H178Y Missense 5/11 -
17-7577074-A-T TP53 c.864T>A p.N288K Missense 8/11 -
17-7579851-T-G TP53 c.62A>C p.D21A Missense 2/11 -
17-7579863-T-G TP53 c.50A>C p.E17A Missense 2/11 -
17-7578452-T-A TP53 c.478A>T p.M160L Missense 5/11 -
17-7577533-G-T TP53 c.748C>A p.P250T Missense 7/11 -
4-55599262-A-T KIT c.2388A>T p.R796S Missense 17/21 -
17-7578199-A-C TP53 c.650T>G p.V217G Missense 6/11 -
9-21974774-G-C CDKN2A c.53C>G p.T18R Missense 1/3 -
5-112090665-G-T APC c.78G>T p.E26D Missense 2/16 -
17-7578256-T-C TP53 c.593A>G p.E198G Missense 6/11 -
20-31024260-A-G ASXL1 c.3745A>G p.M1249V Missense 13/13 -
20-31023821-G-T ASXL1 c.3306G>T p.E1102D Missense 13/13 -
1-43818306-T-G MPL c.1771T>G p.Y591D Missense 12/12 -
17-7578280-G-C TP53 c.569C>G p.P190R Missense 6/11 -
11-108098560-G-A ATM c.130G>A p.D44N Missense 3/63 -
4-106164866-A-C TET2 c.3734A>C p.Y1245S Missense 6/11 -
4-106155620-C-A TET2 c.521C>A p.P174H Missense 3/11 -
4-106164913-C-T TET2 c.3781C>T p.R1261C Missense 6/11 -
4-106196834-C-T TET2 c.5167C>T p.P1723S Missense 11/11 -
4-106197564-G-A TET2 c.5897G>A p.R1966H Missense 11/11 -
20-31024698-C-G ASXL1 c.4183C>G p.L1395V Missense 13/13 -
17-7579508-G-A TP53 c.179C>T p.P60L Missense 4/11 -
9-5073759-A-T JAK2 c.1838A>T p.Y613F Missense 14/25 -
21-44524460-A-G U2AF1 c.97T>C p.C33R Missense 2/8 -
17-29490226-T-G NF1 c.311T>G p.L104* Nonsense 4/58 -
15-90631958-C-T IDH2 c.395G>A p.W132* Nonsense 4/11 -
21-36164605-A-C RUNX1 c.1270T>G p.S424A Missense 9/9 -
4-55127448-G-A PDGFRA c.236G>A p.G79D Missense 3/23 -
17-7578260-C-T TP53 c.589G>A p.V197M Missense 6/11 -
17-7576869-T-C TP53 c.977A>G p.E326G Missense 9/11 -
17-7574023-C-A TP53 c.1004G>T p.R335L Missense 10/11 -
17-7579407-A-C TP53 c.280T>G p.S94A Missense 4/11 -
17-7577153-C-T TP53 c.785G>A p.G262D Missense 8/11 -
17-7579548-G-C TP53 c.139C>G p.P47A Missense 4/11 -
5-112155032-A-G APC c.1303A>G p.K435E Missense 10/16 -
4-106164797-A-G TET2 c.3665A>G p.E1222G Missense 6/11 -
4-106156556-A-C TET2 c.1457A>C p.N486T Missense 3/11 -
17-7579861-T-G TP53 c.52A>C p.T18P Missense 2/11 -
17-7573993-T-C TP53 c.1034A>G p.N345S Missense 10/11 -
9-21971152-T-C CDKN2A c.206A>G p.E69G Missense 2/3 -
17-7579317-A-T TP53 c.370T>A p.C124S Missense 4/11 -
17-7577561-A-C TP53 c.720T>G p.S240R Missense 7/11 -
17-7577561-A-T TP53 c.720T>A p.S240R Missense 7/11 -
17-7574004-G-C TP53 c.1023C>G p.F341L Missense 10/11 -
17-7579419-A-C TP53 c.268T>G p.S90A Missense 4/11 -
13-28592638-A-C FLT3 c.2507T>G p.I836S Missense 20/24 -
9-21971111-G-T CDKN2A c.247C>A p.H83N Missense 2/3 -
17-7577132-C-A TP53 c.806G>T p.S269I Missense 8/11 -
7-148506431-T-A EZH2 c.2081A>T p.H694L Missense 18/20 -
4-106193931-C-T TET2 c.4393C>T p.R1465* Nonsense 10/11 -
4-106196726-C-T TET2 c.5059C>T p.Q1687* Nonsense 11/11 -
4-106196213-C-T TET2 c.4546C>T p.R1516* Nonsense 11/11 -
17-7576885-T-G TP53 c.961A>C p.K321Q Missense 9/11 -
17-7572943-C-T TP53 c.1166G>A p.G389E Missense 11/11 -
20-31022902-G-A ASXL1 c.2387G>A p.W796* Nonsense 13/13 -
5-137803672-AG-CT EGR1 c.1534_1535delAGinsCT p.S512L Missense 2/2 -
7-148525904-C-G EZH2 c.553G>C p.D185H Missense 6/20 -
17-7579332-C-T TP53 c.355G>A p.A119T Missense 4/11 -
19-33792437-G-A CEBPA c.884C>T p.A295V Missense 1/1 -
19-33793278-T-C CEBPA c.43A>G p.M15V Missense 1/1 -
17-7574003-G-C TP53 c.1024C>G p.R342G Missense 10/11 -
17-7574008-A-T TP53 c.1019T>A p.M340K Missense 10/11 -
17-7578242-C-T TP53 c.607G>A p.V203M Missense 6/11 -
2-48025764-C-G MSH6 c.642C>G p.Y214* Nonsense 4/10 -
17-7577070-G-A TP53 c.868C>T p.R290C Missense 8/11 -
4-106156918-G-T TET2 c.1819G>T p.G607* Nonsense 3/11 -
4-106196771-C-T TET2 c.5104C>T p.Q1702* Nonsense 11/11 -
11-119148955-A-G CBL c.1175A>G p.K392R Missense 8/16 -
4-55592163-A-T KIT c.1487A>T p.D496V Missense 9/21 -
17-7577063-T-C TP53 c.875A>G p.K292R Missense 8/11 -
9-5070016-G-T JAK2 c.1605G>T p.M535I Missense 12/25 -
9-5070040-A-T JAK2 c.1629A>T p.E543D Missense 12/25 -
9-5070027-A-T JAK2 c.1616A>T p.K539I Missense 12/25 -
2-25463184-G-C DNMT3A c.2309C>G p.S770W Missense 19/23 -
17-7579872-A-T TP53 c.41T>A p.L14Q Missense 2/11 -
17-7578415-A-G TP53 c.515T>C p.V172A Missense 5/11 -
12-11992212-A-C ETV6 c.302A>C p.D101A Missense 3/8 -
2-209113151-C-T IDH1 c.356G>A p.R119Q Missense 4/10 -
17-7578446-T-A TP53 c.484A>T p.I162F Missense 5/11 -
2-25463248-G-A DNMT3A c.2245C>T p.R749C Missense 19/23 -
2-25457243-G-T DNMT3A c.2644C>A p.R882S Missense 23/23 -
1-115258718-G-T NRAS c.64C>A p.Q22K Missense 2/7 -
7-148508721-C-T EZH2 c.1943G>A p.G648E Missense 16/20 -
12-25398278-A-C KRAS c.41T>G p.V14G Missense 2/5 -
17-74732960-G-T SRSF2 c.283C>A p.P95T Missense 1/3 -
6-45390621-A-C RUNX2 c.350A>C p.D117A Missense 3/9 -
4-106164831-G-A TET2 c.3699G>A p.W1233* Nonsense 6/11 -
4-106190860-C-T TET2 c.4138C>T p.H1380Y Missense 9/11 -
4-106196324-C-T TET2 c.4657C>T p.Q1553* Nonsense 11/11 -
20-31022550-G-T ASXL1 c.2035G>T p.G679* Nonsense 13/13 -
17-7579855-A-G TP53 c.58T>C p.S20P Missense 2/11 -
17-7579848-A-C TP53 c.65T>G p.L22R Missense 2/11 -
2-25463577-T-C DNMT3A c.2105A>G p.D702G Missense 18/23 -
2-25466796-A-T DNMT3A c.1907T>A p.V636E Missense 16/23 -
17-7579563-C-A TP53 c.124G>T p.D42Y Missense 4/11 -
3-128204841-A-AC GATA2 c.599dupG p.S201* Nonsense 3/6 -
17-7577060-C-T TP53 c.878G>A p.G293E Missense 8/11 -
17-7574030-G-A TP53 c.997C>T p.R333C Missense 10/11 -
2-209108301-T-C IDH1 c.548A>G p.Y183C Missense 6/10 -
2-209113106-G-T IDH1 c.401C>A p.A134D Missense 4/10 -
2-198267360-T-A SF3B1 c.1997A>T p.K666M Missense 14/25 -
7-148523617-T-C EZH2 c.836A>G p.H279R Missense 8/20 -
7-148508788-C-T EZH2 c.1876G>A p.V626M Missense 16/20 -
7-148506468-C-T EZH2 c.2044G>A p.A682T Missense 18/20 -
7-148504795-G-C EZH2 c.2199C>G p.Y733* Nonsense 20/20 -
2-25469548-A-C DNMT3A c.1220T>G p.I407S Missense 10/23 -
2-25470556-C-T DNMT3A c.918G>A p.W306* Nonsense 8/23 -
17-7579345-CAAG-C TP53 c.339_341delCTT p.F113del InFrameDeletion 4/11 -
2-25470521-C-T DNMT3A c.953G>A p.R318Q Missense 8/23 -
2-25470545-A-T DNMT3A c.929T>A p.I310N Missense 8/23 -
2-25467482-C-T DNMT3A c.1594G>A p.G532S Missense 14/23 -
14-75513934-T-C MLH3 c.2425A>G p.M809V Missense 2/13 -
15-74290568-T-C PML c.353T>C p.V118A Missense 2/9 -
19-13054667-G-T CALR c.1194G>T p.E398D Missense 9/9 -
13-32906757-A-G BRCA2 c.1142A>G p.D381G Missense 10/27 -
1-36932220-A-G CSF3R c.2249T>C p.V750A Missense 17/17 -
20-31024704-G-A ASXL1 c.4189G>A p.G1397S Missense 13/13 -
12-12022845-C-A ETV6 c.951C>A p.H317Q Missense 5/8 -
13-28608329-A-G FLT3 c.1727T>C p.L576P Missense 14/24 -
20-31022643-G-T ASXL1 c.2128G>T p.G710* Nonsense 13/13 -
21-36252874-A-T RUNX1 c.488T>A p.F163Y Missense 5/9 -
2-198266494-T-C SF3B1 c.2342A>G p.D781G Missense 16/25 -
2-25523096-T-G DNMT3A c.89A>C p.E30A Missense 3/23 -
4-106182972-T-A TET2 c.4011T>A p.Y1337* Nonsense 8/11 -
12-11992226-T-G ETV6 c.316T>G p.S106A Missense 3/8 -
17-7572977-A-G TP53 c.1132T>C p.S378P Missense 11/11 -
20-31022469-G-A ASXL1 c.1954G>A p.G652S Missense 13/13 -
20-31022757-C-T ASXL1 c.2242C>T p.Q748* Nonsense 13/13 -
20-31023408-C-T ASXL1 c.2893C>T p.R965* Nonsense 13/13 -
4-106156306-C-T TET2 c.1207C>T p.Q403* Nonsense 3/11 -
17-74732962-C-G SRSF2 c.281G>C p.R94P Missense 1/3 -
15-90631823-T-G IDH2 c.530A>C p.D177A Missense 4/11 -
12-133202816-C-T POLE c.6418G>A p.E2140K Missense 46/49 -
7-148524283-T-C EZH2 c.701A>G p.K234R Missense 7/20 -
17-7578435-C-G TP53 c.495G>C p.Q165H Missense 5/11 -
4-55592190-A-T KIT c.1514A>T p.N505I Missense 9/21 -
11-119149239-G-C CBL c.1247G>C p.C416S Missense 9/16 -
9-139409068-T-G NOTCH1 c.2101A>C p.T701P Missense 13/34 -
9-139412649-T-G NOTCH1 c.1195A>C p.T399P Missense 7/34 -
11-119148979-T-G CBL c.1199T>G p.M400R Missense 8/16 -
11-119149280-G-A CBL c.1288G>A p.V430M Missense 9/16 -
11-119149251-G-T CBL c.1259G>T p.R420L Missense 9/16 -
11-119148929-A-G CBL c.1149A>G p.I383M Missense 8/16 -
17-7578242-C-A TP53 c.607G>T p.V203L Missense 6/11 -
8-133900366-G-A TG c.2314G>A p.V772M Missense 10/48 -
17-7579362-A-C TP53 c.325T>G p.F109V Missense 4/11 -
9-5073743-C-A JAK2 c.1822C>A p.H608N Missense 14/25 -
2-48025764-C-T MSH6 c.642C>T p.Y214= Synonymous 4/10 -
9-21974798-T-G CDKN2A c.29A>C p.E10A Missense 1/3 -
11-108121787-G-A ATM c.1595G>A p.C532Y Missense 10/63 -
17-7579419-A-G TP53 c.268T>C p.S90P Missense 4/11 -
17-7579404-A-C TP53 c.283T>G p.S95A Missense 4/11 -
2-198267373-G-C SF3B1 c.1984C>G p.H662D Missense 14/25 -
19-45297479-C-T CBLC c.1303C>T p.P435S Missense 9/11 -
11-108196896-C-G ATM c.6919C>G p.L2307V Missense 47/63 -
2-25457249-T-C DNMT3A c.2638A>G p.M880V Missense 23/23 -
12-133253233-C-T POLE c.808G>A p.V270M Missense 9/49 -
12-133250198-G-A POLE c.1322C>T p.P441L Missense 13/49 -
17-7577605-C-A TP53 c.676G>T p.G226C Missense 7/11 -
17-7578249-A-C TP53 c.600T>G p.N200K Missense 6/11 -
17-7578249-A-T TP53 c.600T>A p.N200K Missense 6/11 -
17-7579484-T-G TP53 c.203A>C p.E68A Missense 4/11 -
3-128204960-G-C GATA2 c.481C>G p.P161A Missense 3/6 -
2-25463182-G-A DNMT3A c.2311C>T p.R771* Nonsense 19/23 -
20-31022983-T-A ASXL1 c.2468T>A p.L823* Nonsense 13/13 -
12-12038916-A-C ETV6 c.1209A>C p.K403N Missense 7/8 -
7-148526829-C-T EZH2 c.475G>A p.G159R Missense 5/20 -
4-106194051-G-A TET2 c.4513G>A p.A1505T Missense 10/11 -
4-106196627-C-T TET2 c.4960C>T p.Q1654* Nonsense 11/11 -
17-7577520-A-C TP53 c.761T>G p.I254S Missense 7/11 -
2-25470998-A-C DNMT3A c.763T>G p.S255A Missense 7/23 -
1-43804340-G-A MPL c.340G>A p.V114M Missense 3/12 -
12-12038902-C-T ETV6 c.1195C>T p.R399C Missense 7/8 -
4-106158187-C-T TET2 c.3088C>T p.Q1030* Nonsense 3/11 -
11-533854-G-A HRAS c.202C>T p.R68W Missense 3/6 -
2-25463310-C-T DNMT3A c.2183G>A p.G728D Missense 19/23 -
17-7579409-A-G TP53 c.278T>C p.L93P Missense 4/11 -
17-7577595-C-A TP53 c.686G>T p.C229F Missense 7/11 -
17-7574013-G-T TP53 c.1014C>A p.F338L Missense 10/11 -
17-37881628-A-C ERBB2 c.2698A>C p.T900P Missense 22/27 -
17-37881639-T-G ERBB2 c.2709T>G p.S903R Missense 22/27 -
2-209113133-A-C IDH1 c.374T>G p.V125G Missense 4/10 -
2-25523094-C-T DNMT3A c.91G>A p.E31K Missense 3/23 -
4-106197149-C-T TET2 c.5482C>T p.Q1828* Nonsense 11/11 -
4-106156019-T-G TET2 c.920T>G p.L307R Missense 3/11 -
12-25380232-C-T KRAS c.226G>A p.E76K Missense 3/5 -
9-5070020-T-C JAK2 c.1609T>C p.F537L Missense 12/25 -
1-43806165-C-T MPL c.961C>T p.R321W Missense 6/12 -
7-148508726-G-T EZH2 c.1938C>A p.Y646* Nonsense 16/20 -
18-46476680-C-T SMAD7 c.115G>A p.G39R Missense 1/4 -
17-7578445-A-C TP53 c.485T>G p.I162S Missense 5/11 -
17-7579584-A-AG TP53 c.102_102dupC p.P36Afs*7 SpliceAcceptorInsertion 4/11 -
20-31022346-G-A ASXL1 c.1831G>A p.A611T Missense 13/13 -
17-7572956-A-C TP53 c.1153T>G p.F385V Missense 11/11 -
7-151962290-C-G KMT2C c.1017G>C p.K339N Missense 8/59 -
17-7579881-T-G TP53 c.32A>C p.E11A Missense 2/11 -
17-7579582-C-A TP53 c.105G>T p.L35F Missense 4/11 -
X-123205087-C-T STAG2 c.2447C>T p.T816I Missense 25/35 -
11-108141988-T-C ATM c.2932T>C p.S978P Missense 20/63 -
2-25469086-G-A DNMT3A c.1372C>T p.R458W Missense 11/23 -
21-36231817-G-C RUNX1 c.567C>G p.Y189* Nonsense 6/9 -
11-108164137-T-C ATM c.4709T>C p.V1570A Missense 31/63 -
18-48584751-A-C SMAD4 c.829A>C p.T277P Missense 7/12 -
4-106197000-A-G TET2 c.5333A>G p.H1778R Missense 11/11 -
5-170837546-T-G NPM1 c.862T>G p.W288G Missense 11/11 -
5-170837552-T-G NPM1 c.868T>G p.W290G Missense 11/11 -
12-25398233-A-C KRAS c.86T>G p.V29G Missense 2/5 -
9-139397762-A-T NOTCH1 c.5039T>A p.I1680N Missense 27/34 -
4-106196220-C-G TET2 c.4553C>G p.S1518* Nonsense 11/11 -
14-75514489-C-G MLH3 c.1870G>C p.E624Q Missense 2/13 -
19-13054644-A-T CALR c.1171A>T p.K391* Nonsense 9/9 -
19-13054610-G-C CALR c.1137G>C p.E379D Missense 9/9 -
4-106157848-C-T TET2 c.2749C>T p.Q917* Nonsense 3/11 -
X-76931741-GTCA-G ATRX c.3786_3788delTGA p.D1264del InFrameDeletion 10/35 -
12-25380259-T-G KRAS c.199A>C p.M67L Missense 3/5 -
17-7579418-G-A TP53 c.269C>T p.S90F Missense 4/11 -
3-128199966-T-G GATA2 c.1339A>C p.S447R Missense 6/6 -
3-128204867-A-C GATA2 c.574T>G p.S192A Missense 3/6 -
7-151927025-A-G KMT2C c.2959T>C p.Y987H Missense 18/59 -
7-151927021-C-A KMT2C c.2963G>T p.C988F Missense 18/59 -
4-106190862-T-A TET2 c.4140T>A p.H1380Q Missense 9/11 -
12-133257837-C-A POLE c.91G>T p.A31S Missense 2/49 -
4-55131118-C-T PDGFRA c.661C>T p.L221F Missense 5/23 -
17-7577023-C-A TP53 c.915G>T p.K305N Missense 8/11 -
9-5073718-T-G JAK2 c.1797T>G p.S599R Missense 14/25 -
9-5073718-T-A JAK2 c.1797T>A p.S599R Missense 14/25 -
9-139410076-T-G NOTCH1 c.1762A>C p.T588P Missense 11/34 -
9-139410120-T-G NOTCH1 c.1718A>C p.D573A Missense 11/34 -
9-139413211-T-G NOTCH1 c.931A>C p.T311P Missense 6/34 -
4-55592174-A-T KIT c.1498A>T p.T500S Missense 9/21 -
12-12037473-C-A ETV6 c.1104C>A p.F368L Missense 6/8 -
17-7577505-T-G TP53 c.776A>C p.D259A Missense 7/11 -
17-7573976-T-G TP53 c.1051A>C p.K351Q Missense 10/11 -
4-106162547-G-T TET2 c.3461G>T p.G1154V Missense 4/11 -
20-31022943-G-T ASXL1 c.2428G>T p.D810Y Missense 13/13 -
4-106197551-C-A TET2 c.5884C>A p.P1962T Missense 11/11 -
21-36231789-C-A RUNX1 c.595G>T p.G199W Missense 6/9 -
17-7577021-C-T TP53 c.917G>A p.R306Q Missense 8/11 -
7-148525888-CCAT-C EZH2 c.566_568delATG p.D189del InFrameDeletion 6/20 -
17-45266522-T-C CDC27 c.17A>G p.E6G Missense 1/19 -
20-31384624-C-A DNMT3B c.1326C>A p.N442K Missense 13/23 -
2-25505408-T-C DNMT3A c.350A>G p.E117G Missense 4/23 -
5-137801734-A-G EGR1 c.284A>G p.Q95R Missense 1/2 -
17-7578426-G-T TP53 c.504C>A p.H168Q Missense 5/11 -
17-7578426-G-C TP53 c.504C>G p.H168Q Missense 5/11 -
11-32417943-C-T WT1 c.1109G>A p.R375H Missense 7/10 -
3-128205152-A-G GATA2 c.289T>C p.W97R Missense 3/6 -
2-209113320-C-A IDH1 c.187G>T p.A63S Missense 4/10 -
2-25462074-A-T DNMT3A c.2333T>A p.V778E Missense 20/23 -
17-7574014-A-C TP53 c.1013T>G p.F338C Missense 10/11 -
7-148544339-G-T EZH2 c.52C>A p.R18S Missense 2/20 -
11-119148876-G-T CBL c.1096G>T p.E366* Nonsense 8/16 -
4-106196650-T-A TET2 c.4983T>A p.Y1661* Nonsense 11/11 -
2-25462057-C-T DNMT3A c.2350G>A p.E784K Missense 20/23 -
19-13054685-T-G CALR c.1212T>G p.D404E Missense 9/9 -
19-13054615-A-G CALR c.1142A>G p.E381G Missense 9/9 -
19-13054640-G-C CALR c.1167G>C p.E389D Missense 9/9 -
17-7577061-C-T TP53 c.877G>A p.G293R Missense 8/11 -
12-25380299-C-A KRAS c.159G>T p.L53F Missense 3/5 -
1-115258733-T-C NRAS c.49A>G p.S17G Missense 2/7 -
10-89717684-A-G PTEN c.709A>G p.K237E Missense 7/9 -
15-90630759-T-G IDH2 c.727A>C p.K243Q Missense 6/11 -
2-25464487-G-A DNMT3A c.2026C>T p.R676W Missense 17/23 -
20-31023108-G-T ASXL1 c.2593G>T p.E865* Nonsense 13/13 -
X-76856021-T-C ATRX c.5579A>G p.N1860S Missense 23/35 -
4-55593661-T-A KIT c.1727T>A p.L576H Missense 11/21 -
2-25468133-G-A DNMT3A c.1543C>T p.Q515* Nonsense 13/23 -
4-106190869-A-G TET2 c.4147A>G p.R1383G Missense 9/11 -
4-106193778-C-A TET2 c.4240C>A p.Q1414K Missense 10/11 -
17-7578215-A-G TP53 c.634T>C p.F212L Missense 6/11 -
1-115256521-A-C NRAS c.190T>G p.Y64D Missense 3/7 -
9-21971176-T-A CDKN2A c.182A>T p.E61V Missense 2/3 -
9-139409976-C-T NOTCH1 c.1862G>A p.R621H Missense 11/34 -
6-41903798-C-A CCND3 c.759G>T p.E253D Missense 5/5 -
2-25457242-C-A DNMT3A c.2645G>T p.R882L Missense 23/23 -
2-25462014-A-G DNMT3A c.2393T>C p.L798P Missense 20/23 -
17-7574006-A-C TP53 c.1021T>G p.F341V Missense 10/11 -
13-28608226-T-G FLT3 c.1830A>C p.L610F Missense 14/24 -
9-5050690-GG-AT JAK2 c.473_474delGGinsAT p.R158H Missense 6/25 -
17-7578502-A-T TP53 c.428T>A p.V143E Missense 5/11 -
1-115256484-T-C NRAS c.227A>G p.E76G Missense 3/7 -
9-139401802-C-T NOTCH1 c.3598G>A p.D1200N Missense 22/34 -
17-41223234-GA-CC BRCA1 c.4696_4697delTCinsGG p.S1566G Missense 15/23 -
4-106180781-C-T TET2 c.3809C>T p.T1270I Missense 7/11 -
12-133219838-C-T POLE c.4523G>A p.R1508H Missense 35/49 -
12-133253974-C-T POLE c.776G>A p.R259H Missense 8/49 -
4-106190836-A-C TET2 c.4114A>C p.T1372P Missense 9/11 -
4-106190836-A-T TET2 c.4114A>T p.T1372S Missense 9/11 -
13-32890607-G-T BRCA2 c.10G>T p.G4* Nonsense 2/27 -
12-25380231-T-C KRAS c.227A>G p.E76G Missense 3/5 -
2-25468931-G-A DNMT3A c.1432C>T p.R478W Missense 12/23 -
2-25457197-A-T DNMT3A c.2690T>A p.V897D Missense 23/23 -
4-106190797-C-T TET2 c.4075C>T p.R1359C Missense 9/11 -
12-25380282-G-A KRAS c.176C>T p.A59V Missense 3/5 -
20-31023717-C-T ASXL1 c.3202C>T p.R1068* Nonsense 13/13 -
17-29483002-T-C NF1 c.62T>C p.L21P Missense 2/58 -
2-25467433-A-G DNMT3A c.1643T>C p.M548T Missense 14/23 -
2-25467191-A-G DNMT3A c.1684T>C p.C562R Missense 15/23 -
2-25463289-T-G DNMT3A c.2204A>C p.Y735S Missense 19/23 -
2-25463184-G-A DNMT3A c.2309C>T p.S770L Missense 19/23 -
2-25457212-G-T DNMT3A c.2675C>A p.S892* Nonsense 23/23 -
18-48584791-A-C SMAD4 c.869A>C p.H290P Missense 7/12 -
18-48584794-A-C SMAD4 c.872A>C p.H291P Missense 7/12 -
21-36206732-G-T RUNX1 c.780C>A p.N260K Missense 7/9 -
X-123200027-C-A STAG2 c.2099C>A p.A700D Missense 22/35 -
21-36252995-C-G RUNX1 c.367G>C p.D123H Missense 5/9 -
17-7579383-T-G TP53 c.304A>C p.T102P Missense 4/11 -
12-12022639-T-C ETV6 c.745T>C p.S249P Missense 5/8 -
2-25457284-A-G DNMT3A c.2603T>C p.F868S Missense 23/23 -
7-148507473-T-C EZH2 c.1981A>G p.K661E Missense 17/20 -
4-106180870-T-A TET2 c.3898T>A p.F1300I Missense 7/11 -
2-25466774-G-C DNMT3A c.1929C>G p.I643M Missense 16/23 -
4-106193748-C-T TET2 c.4210C>T p.R1404* Nonsense 10/11 -
7-148506163-C-A EZH2 c.2195G>T p.R732I Missense 19/20 -
21-36259172-G-T RUNX1 c.319C>A p.R107S Missense 4/9 -
2-25470559-C-T DNMT3A c.915G>A p.W305* Nonsense 8/23 -
4-106157335-C-T TET2 c.2236C>T p.Q746* Nonsense 3/11 -
2-25470588-C-T DNMT3A c.886G>A p.V296M Missense 8/23 -
4-106197308-C-T TET2 c.5641C>T p.H1881Y Missense 11/11 -
17-7578553-T-G TP53 c.377A>C p.Y126S Missense 5/11 -
17-7579419-A-T TP53 c.268T>A p.S90T Missense 4/11 -
17-74732966-C-T SRSF2 c.277G>A p.G93S Missense 1/3 -
7-140500190-G-A BRAF c.952C>T p.P318S Missense 7/18 -
13-48878061-A-C RB1 c.13A>C p.T5P Missense 1/27 -
9-5073771-T-A JAK2 c.1850T>A p.V617D Missense 14/25 -
17-7573006-T-G TP53 c.1103A>C p.H368P Missense 11/11 -
11-108188238-A-C ATM c.6337A>C p.T2113P Missense 43/63 -
17-7573999-T-G TP53 c.1028A>C p.E343A Missense 10/11 -
2-48028063-A-G MSH6 c.2941A>G p.I981V Missense 4/10 -
12-12006412-G-A ETV6 c.380G>A p.R127Q Missense 4/8 -
3-128204731-C-T GATA2 c.710G>A p.G237D Missense 3/6 -
2-25469967-A-C DNMT3A c.1075T>G p.Y359D Missense 9/23 -
3-128205100-T-G GATA2 c.341A>C p.N114T Missense 3/6 -
9-21974732-A-C CDKN2A c.95T>G p.L32R Missense 1/3 -
3-128204915-T-G GATA2 c.526A>C p.T176P Missense 3/6 -
3-128204783-T-C GATA2 c.658A>G p.S220G Missense 3/6 -
4-106197365-G-A TET2 c.5698G>A p.V1900I Missense 11/11 -
X-39922288-C-G BCOR c.3884G>C p.S1295T Missense 9/15 -
2-25505549-G-A DNMT3A c.209C>T p.A70V Missense 4/23 -
2-25463189-G-C DNMT3A c.2304C>G p.D768E Missense 19/23 -
2-25458582-A-C DNMT3A c.2591T>G p.M864R Missense 22/23 -
2-25463205-A-C DNMT3A c.2288T>G p.V763G Missense 19/23 -
2-25463195-C-A DNMT3A c.2298G>T p.K766N Missense 19/23 -
11-119149247-T-A CBL c.1255T>A p.C419S Missense 9/16 -
2-25458576-C-A DNMT3A c.2597G>T p.R866M Missense 22/23 -
17-7573927-C-T TP53 c.1100G>A p.S367N Missense 10/11 -
X-39933593-AG-A BCOR c.1005delC p.S336Rfs*42 Frameshift 4/15 -
4-106157384-A-AC TET2 c.2290_2290dupC p.Q764Pfs*5 Frameshift 3/11 -
19-33792937-CG-C CEBPA c.383delC p.P128Rfs*32 Frameshift 1/1 -
19-33793162-GC-G CEBPA c.158delG p.G53Afs*107 Frameshift 1/1 -
19-33793002-CA-C CEBPA c.318delT p.F106Lfs*54 Frameshift 1/1 -
17-7579419-AG-A TP53 c.267delC p.S90Pfs*33 Frameshift 4/11 -
17-7577057-T-TC TP53 c.880_880dup p.E294Gfs*12 Frameshift 8/11 -
17-7577114-C-CA TP53 c.823dupT p.C275Lfs*31 Frameshift 8/11 -
19-13054564-AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG-A CALR c.1099_1150del52 p.L367Tfs*46 Frameshift 9/9 -
20-31023045-A-AC ASXL1 c.2535dupC p.S846Qfs*5 Frameshift 13/13 -
17-7579840-GT-G TP53 c.72delA p.K24Nfs*20 Frameshift 2/11 -
17-7577603-GC-G TP53 c.677delG p.G226Afs*21 Frameshift 7/11 -
3-128205138-GC-G GATA2 c.302delG p.G101Afs*18 Frameshift 3/6 -
3-128204841-AC-A GATA2 c.599delG p.G200Vfs*18 Frameshift 3/6 -
4-106156446-GA-G TET2 c.1351delA p.I451* Frameshift 3/11 -
4-106156643-AC-A TET2 c.1547delC p.P516Hfs*17 Frameshift 3/11 -
19-13054574-TAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGGACA-T CALR c.1103_1154del52 p.K368Rfs*45 Frameshift 9/9 -
5-79970914-CA-C MSH3 c.1148delA p.K383Rfs*32 Frameshift 7/24 -
17-7577530-TG-T TP53 c.750delC p.I251Sfs*94 Frameshift 7/11 -
12-12006417-C-CT ETV6 c.391_391dupT p.S131Ffs*23 Frameshift 4/8 -
4-106157173-GA-G TET2 c.2079delA p.K693Nfs*7 Frameshift 3/11 -
19-13054582-AGGAAGAAGACAAGAAACGCAAAGAGGAGGAG-A CALR c.1111_1141del31 p.E371Rfs*49 Frameshift 9/9 -
17-7579416-AG-A TP53 c.270delC p.W91Gfs*32 Frameshift 4/11 -
17-7579706-GT-G TP53 c.89delA p.N30Tfs*14 Frameshift 3/11 -
4-106197226-CT-C TET2 c.5562delT p.L1855Wfs*32 Frameshift 11/11 -
20-31022801-GC-G ASXL1 c.2290delC p.L764Yfs*8 Frameshift 13/13 -
4-106156072-CA-C TET2 c.978delA p.K326Nfs*21 Frameshift 3/11 -
19-33793174-CG-C CEBPA c.146delC p.P49Rfs*111 Frameshift 1/1 -
5-112173560-CA-C APC c.2274delA p.A759Pfs*2 Frameshift 16/16 -
4-106158047-TG-T TET2 c.2950delG p.E984Nfs*23 Frameshift 3/11 -
19-33792710-GGGGCGGCCAGGTGCGC-G CEBPA c.595_610del16 p.A199Rfs*114 Frameshift 1/1 -
2-25471001-C-CG DNMT3A c.759_759dupC p.A254Rfs*10 Frameshift 7/23 -
2-25464456-TC-T DNMT3A c.2056delG p.D686Tfs*19 Frameshift 17/23 -
21-36206858-AG-A RUNX1 c.654delC p.L219Cfs*18 Frameshift 7/9 -
21-36164838-C-CG RUNX1 c.1036_1036dupC p.R346Pfs*254 Frameshift 9/9 -
20-31022547-A-AG ASXL1 c.2036dupG p.G680Rfs*38 Frameshift 13/13 -
7-140453160-AT-A BRAF c.1774delA p.I592* Frameshift 15/18 -
X-39913252-TG-T BCOR c.4862delC p.P1621Qfs*53 Frameshift 14/15 -
2-25458596-TA-T DNMT3A c.2576delT p.L859Yfs*22 Frameshift 22/23 -
2-25463307-CG-C DNMT3A c.2185delC p.R729Gfs*50 Frameshift 19/23 -
13-32913558-CA-C BRCA2 c.5073delA p.K1691Nfs*15 Frameshift 11/27 -
11-532668-C-T HRAS c.538G>A p.G180S Missense 5/6 -
12-25380212-A-C KRAS c.246T>G p.F82L Missense 3/5 -
17-7577515-T-G TP53 c.766A>C p.T256P Missense 7/11 -
9-21971197-A-C CDKN2A c.161T>G p.M54R Missense 2/3 -
7-151927023-G-C KMT2C c.2961C>G p.Y987* Nonsense 18/59 -
17-7579445-G-T TP53 c.242C>A p.T81K Missense 4/11 -
17-7578552-AG-A TP53 c.378delC p.S127Pfs*43 Frameshift 5/11 -
4-55593639-GT-G KIT c.1708delT p.Y570Tfs*2 Frameshift 11/21 -
X-76920172-CT-C ATRX c.3904delA p.R1302Efs*44 Frameshift 11/35 -
15-90627553-G-A IDH2 c.1304C>T p.T435M Missense 11/11 -
2-198283669-T-A SF3B1 c.416-357A>T - IntronicSNV - 4/24
2-198283669-T-C SF3B1 c.416-357A>G - IntronicSNV - 4/24
13-32972854-G-A BRCA2 c.10204G>A p.E3402K Missense 27/27 -
12-133202843-G-A POLE c.6391C>T p.R2131C Missense 46/49 -
12-112940044-A-T PTPN11 c.1696A>T p.T566S Missense 14/16 -
13-49030384-C-T RB1 c.1859C>T p.T620M Missense 19/27 -
17-7572932-C-T TP53 c.1177G>A p.D393N Missense 11/11 -
17-7572959-T-C TP53 c.1150A>G p.M384V Missense 11/11 -
17-7572982-G-A TP53 c.1127C>T p.S376F Missense 11/11 -
17-7572989-C-T TP53 c.1120G>A p.G374S Missense 11/11 -
17-7576875-T-C TP53 c.971A>G p.D324G Missense 9/11 -
17-7576915-T-C TP53 c.931A>G p.N311D Missense 9/11 -
17-7577024-T-G TP53 c.914A>C p.K305T Missense 8/11 -
17-7577025-T-C TP53 c.913A>G p.K305E Missense 8/11 -
19-13054637-T-G CALR c.1164T>G p.D388E Missense 9/9 -
19-13054625-C-G CALR c.1152C>G p.D384E Missense 9/9 -
19-13054626-A-G CALR c.1153A>G p.K385E Missense 9/9 -
2-192700717-C-T CAVIN2 c.1210G>A p.E404K Missense 2/2 -
2-192700735-T-C CAVIN2 c.1192A>G p.S398G Missense 2/2 -
20-31024268-G-T ASXL1 c.3753G>T p.Q1251H Missense 13/13 -
20-31024308-G-T ASXL1 c.3793G>T p.D1265Y Missense 13/13 -
20-31024317-A-G ASXL1 c.3802A>G p.T1268A Missense 13/13 -
20-31024339-C-T ASXL1 c.3824C>T p.S1275L Missense 13/13 -
20-31024450-C-T ASXL1 c.3935C>T p.A1312V Missense 13/13 -
20-31024450-C-A ASXL1 c.3935C>A p.A1312E Missense 13/13 -
22-29885473-C-T NEFH c.1844C>T p.P615L Missense 4/4 -
20-31024504-C-T ASXL1 c.3989C>T p.P1330L Missense 13/13 -
20-31024647-C-A ASXL1 c.4132C>A p.L1378I Missense 13/13 -
20-31024754-A-T ASXL1 c.4239A>T p.L1413F Missense 13/13 -
20-31024758-C-T ASXL1 c.4243C>T p.R1415* Nonsense 13/13 -
20-31024858-A-T ASXL1 c.4343A>T p.Q1448L Missense 13/13 -
20-31024896-C-G ASXL1 c.4381C>G p.P1461A Missense 13/13 -
20-31024897-C-T ASXL1 c.4382C>T p.P1461L Missense 13/13 -
20-31024980-T-C ASXL1 c.4465T>C p.S1489P Missense 13/13 -
20-31025014-A-G ASXL1 c.4499A>G p.E1500G Missense 13/13 -
20-31025035-C-T ASXL1 c.4520C>T p.A1507V Missense 13/13 -
20-31025007-A-G ASXL1 c.4492A>G p.T1498A Missense 13/13 -
21-36164448-A-G RUNX1 c.1427T>C p.V476A Missense 9/9 -
21-36164475-G-T RUNX1 c.1400C>A p.A467E Missense 9/9 -
21-36164480-G-T RUNX1 c.1395C>A p.N465K Missense 9/9 -
21-36164484-G-A RUNX1 c.1391C>T p.T464I Missense 9/9 -
21-36164493-T-A RUNX1 c.1382A>T p.N461I Missense 9/9 -
21-36164520-A-C RUNX1 c.1355T>G p.V452G Missense 9/9 -
3-100948415-C-T IMPG2 c.3442G>A p.D1148N Missense 17/19 -
3-128199918-A-G GATA2 c.1387T>C p.S463P Missense 6/6 -
7-101892287-G-A CUX1 c.4483G>A p.A1495T Missense 24/24 -
7-101892294-G-A CUX1 c.4490G>A p.R1497Q Missense 24/24 -
9-21970913-C-T CDKN2A c.445G>A p.E149K Missense 2/3 -
X-39911598-G-A BCOR c.5032C>T p.R1678C Missense 15/15 -
6-41903783-G-A CCND3 c.774C>T p.A258= Synonymous 5/5 -
6-45515007-G-A RUNX2 c.1531G>A p.G511S Missense 9/9 -
X-123227962-G-T STAG2 c.3673G>T p.G1225* Nonsense 33/35 -
X-15841234-C-T ZRSR2 c.1318C>T p.R440W Missense 11/11 -
X-15841237-A-G ZRSR2 c.1321A>G p.S441G Missense 11/11 -
X-15841315-A-G ZRSR2 c.1399A>G p.R467G Missense 11/11 -
X-133527627-G-T PHF6 c.337G>T p.A113S Missense 4/11 -
X-15841321-T-G ZRSR2 c.1405T>G p.S469A Missense 11/11 -
X-15841345-C-T ZRSR2 c.1429C>T p.Q477* Nonsense 11/11 -
20-31024804-TC-T ASXL1 c.4293delC p.S1432Pfs*18 Frameshift 13/13 -
20-31024636-T-TG ASXL1 c.4127_4127dup p.P1377Sfs*3 Frameshift 13/13 -
19-45297502-GC-G CBLC c.1332delC p.R445Gfs*10 Frameshift 9/11 -
4-106197574-AG-A TET2 c.5907delG p.K1969Nfs*10 Frameshift 11/11 -
4-106197564-GT-G TET2 c.5900delT p.F1967Sfs*12 Frameshift 11/11 -
9-21970950-G-GC CDKN2A c.407_407dup p.T137Hfs*5 Frameshift 2/3 -
11-532700-C-T HRAS c.506G>A p.R169Q Missense 5/6 -
1-115256532-C-A NRAS c.179G>T p.G60V Missense 3/7 -
4-106156384-G-A TET2 c.1285G>A p.G429R Missense 3/11 -
22-23634790-G-A BCR c.2845G>A p.V949I Missense 15/23 -
17-7579910-C-T TP53 c.3G>A p.M1? Missense 2/11 -
11-108115672-T-G ATM c.820T>G p.S274A Missense 7/63 -
2-25467083-G-A DNMT3A c.1792C>T p.R598* Nonsense 15/23 -
4-106158441-TC-T TET2 c.3344delC p.P1115Lfs*2 Frameshift 3/11 -
8-133899218-C-T TG c.1601C>T p.T534I Missense 9/48 -
4-72635086-C-A GC c.90G>T p.K30N Missense 2/13 -
17-7577524-T-G TP53 c.757A>C p.T253P Missense 7/11 -
17-7579419-A-AG TP53 c.267_267dup p.S90Lfs*59 Frameshift 4/11 -
17-7578277-G-T TP53 c.572C>A p.P191H Missense 6/11 -
2-25457191-C-T DNMT3A c.2696G>A p.R899H Missense 23/23 -
4-106164769-G-A TET2 c.3637G>A p.V1213M Missense 6/11 -
12-12022496-T-C ETV6 c.602T>C p.L201P Missense 5/8 -
1-65311209-G-A JAK1 c.2102C>T p.A701V Missense 15/25 -
1-115256521-A-T NRAS c.190T>A p.Y64N Missense 3/7 -
5-137801500-C-T EGR1 c.50C>T p.S17F Missense 1/2 -
4-106190830-G-A TET2 c.4108G>A p.G1370R Missense 9/11 -
20-31022839-T-A ASXL1 c.2324T>A p.L775* Nonsense 13/13 -
2-25505413-TG-T DNMT3A c.344delC p.P115Qfs*47 Frameshift 4/23 -
19-33792975-CG-C CEBPA c.345delC p.G116Afs*44 Frameshift 1/1 -
21-36206776-T-TG RUNX1 c.735dupC p.T246Hfs*15 Frameshift 7/9 -
17-41246161-T-C BRCA1 c.1387A>G p.K463E Missense 10/23 -
13-32914091-A-G BRCA2 c.5599A>G p.T1867A Missense 11/27 -
17-41246359-C-T BRCA1 c.1189G>A p.D397N Missense 10/23 -
17-41246413-T-C BRCA1 c.1135A>G p.I379V Missense 10/23 -
10-27328937-C-G ANKRD26 c.2332G>C p.E778Q Missense 21/34 -
17-41246559-T-C BRCA1 c.989A>G p.D330G Missense 10/23 -
13-32912282-A-G BRCA2 c.3790A>G p.K1264E Missense 11/27 -
4-55561851-G-T KIT c.241G>T p.E81* Nonsense 2/21 -
7-151874751-C-T KMT2C c.7787G>A p.R2596Q Missense 38/59 -
19-13054644-A-G CALR c.1171A>G p.K391E Missense 9/9 -
4-106196483-G-T TET2 c.4816G>T p.G1606C Missense 11/11 -
21-36206812-T-G RUNX1 c.700A>C p.T234P Missense 7/9 -
17-7577133-T-C TP53 c.805A>G p.S269G Missense 8/11 -
17-7577136-T-G TP53 c.802A>C p.N268H Missense 8/11 -
17-7579407-A-T TP53 c.280T>A p.S94T Missense 4/11 -
17-7578452-TGGCGCG-T TP53 c.472_477delCGCGCC p.R158_A159del InFrameDeletion 5/11 -
17-7578423-C-A TP53 c.507G>T p.M169I Missense 5/11 -
17-7577030-C-G TP53 c.908G>C p.S303T Missense 8/11 -
17-7578451-A-T TP53 c.479T>A p.M160K Missense 5/11 -
4-55593635-T-A KIT c.1701T>A p.N567K Missense 11/21 -
17-7578259-A-T TP53 c.590T>A p.V197E Missense 6/11 -
17-7579884-A-T TP53 c.29T>A p.V10D Missense 2/11 -
17-7578217-G-T TP53 c.632C>A p.T211N Missense 6/11 -
17-7578439-T-A TP53 c.491A>T p.K164M Missense 5/11 -
17-7578436-T-A TP53 c.494A>T p.Q165L Missense 5/11 -
17-7579470-C-G TP53 c.217G>C p.V73L Missense 4/11 -
17-7578430-T-A TP53 c.500A>T p.Q167L Missense 5/11 -
17-7577141-C-G TP53 c.797G>C p.G266A Missense 8/11 -
17-7578246-C-G TP53 c.603G>C p.L201F Missense 6/11 -
17-7577132-C-G TP53 c.806G>C p.S269T Missense 8/11 -
17-7577577-T-G TP53 c.704A>C p.N235T Missense 7/11 -
17-7578473-G-T TP53 c.457C>A p.P153T Missense 5/11 -
17-7578409-C-A TP53 c.521G>T p.R174M Missense 5/11 -
17-7578396-G-T TP53 c.534C>A p.H178Q Missense 5/11 -
17-7577133-T-G TP53 c.805A>C p.S269R Missense 8/11 -
4-106193889-C-T TET2 c.4351C>T p.R1451W Missense 10/11 -
17-7578278-G-A TP53 c.571C>T p.P191S Missense 6/11 -
17-7578464-G-T TP53 c.466C>A p.R156S Missense 5/11 -
4-106190829-AG-A TET2 c.4111delG p.V1371Sfs*77 Frameshift 9/11 -
9-21970950-GC-G CDKN2A c.407delG p.G136Afs*10 Frameshift 2/3 -
17-7578279-A-AG TP53 c.569_569dup p.P191Sfs*18 Frameshift 6/11 -
11-118307347-TC-T KMT2A c.126delC p.P45Rfs*105 Frameshift 1/36 -
17-7578468-GC-G TP53 c.461delG p.G154Afs*16 Frameshift 5/11 -
17-7578249-AT-A TP53 c.599delA p.N200Ifs*47 Frameshift 6/11 -
17-7577549-GC-G TP53 c.731delG p.G244Afs*3 Frameshift 7/11 -
4-106158446-T-TA TET2 c.3348_3348dupA p.N1118Kfs*12 Frameshift 3/11 -
9-5073749-GT-G JAK2 c.1832delT p.L611* Frameshift 14/25 -
17-7579372-GC-G TP53 c.314delG p.G105Afs*18 Frameshift 4/11 -
17-7578374-TC-T TP53 c.556delG p.D186Mfs*61 Frameshift 5/11 -
17-7577035-T-TG TP53 c.902dupC p.G302Rfs*4 Frameshift 8/11 -
22-41574678-GC-G EP300 c.6970delC p.H2324Tfs*29 Frameshift 31/31 -
19-10291529-G-A DNMT1 c.150C>T p.H50= Synonymous 3/41 -
13-28592671-A-G FLT3 c.2474T>C p.V825A Missense 20/24 -
19-33793007-TCGC-T CEBPA c.311_313delGCG p.G104del InFrameDeletion 1/1 -
13-28592612-T-C FLT3 c.2533A>G p.R845G Missense 20/24 -
2-25523021-C-T DNMT3A c.164G>A p.R55H Missense 3/23 -
7-148543617-C-A EZH2 c.191G>T p.R64M Missense 3/20 -
2-25467036-G-T DNMT3A c.1839C>A p.H613Q Missense 15/23 -
2-25523040-C-T DNMT3A c.145G>A p.G49R Missense 3/23 -
2-25523040-C-G DNMT3A c.145G>C p.G49R Missense 3/23 -
2-25471018-T-C DNMT3A c.743A>G p.Q248R Missense 7/23 -
7-148507502-A-G EZH2 c.1952T>C p.I651T Missense 17/20 -
7-148526873-G-A EZH2 c.431C>T p.T144I Missense 5/20 -
2-25468196-A-T DNMT3A c.1480T>A p.C494S Missense 13/23 -
20-31376758-G-T DNMT3B c.753G>T p.K251N Missense 7/23 -
2-25505494-T-G DNMT3A c.264A>C p.L88F Missense 4/23 -
7-140500183-G-A BRAF c.959C>T p.A320V Missense 7/18 -
4-106155259-T-A TET2 c.160T>A p.W54R Missense 3/11 -
4-106155259-T-C TET2 c.160T>C p.W54R Missense 3/11 -
20-31022853-C-T ASXL1 c.2338C>T p.Q780* Nonsense 13/13 -
2-25467409-C-A DNMT3A c.1667G>T p.R556M Missense 14/23 -
17-7579322-A-C TP53 c.365T>G p.V122G Missense 4/11 -
17-7579569-T-A TP53 c.118A>T p.M40L Missense 4/11 -
12-25362835-T-C KRAS c.461A>G p.D154G Missense 5/5 -
4-106196347-T-A TET2 c.4680T>A p.Y1560* Nonsense 11/11 -
4-106155682-A-G TET2 c.583A>G p.K195E Missense 3/11 -
4-106155928-G-A TET2 c.829G>A p.A277T Missense 3/11 -
4-106156585-A-G TET2 c.1486A>G p.M496V Missense 3/11 -
4-106156693-T-G TET2 c.1594T>G p.L532V Missense 3/11 -
4-106156756-G-A TET2 c.1657G>A p.V553M Missense 3/11 -
4-106156925-C-G TET2 c.1826C>G p.S609C Missense 3/11 -
4-106157071-C-T TET2 c.1972C>T p.H658Y Missense 3/11 -
4-106157389-C-A TET2 c.2290C>A p.Q764K Missense 3/11 -
4-106157831-C-A TET2 c.2732C>A p.A911D Missense 3/11 -
4-106157876-A-C TET2 c.2777A>C p.N926T Missense 3/11 -
4-106158139-G-T TET2 c.3040G>T p.A1014S Missense 3/11 -
4-106158284-T-C TET2 c.3185T>C p.V1062A Missense 3/11 -
4-106182926-T-A TET2 c.3965T>A p.L1322Q Missense 8/11 -
4-106194051-G-T TET2 c.4513G>T p.A1505S Missense 10/11 -
4-106196265-A-G TET2 c.4598A>G p.K1533R Missense 11/11 -
4-106196382-G-A TET2 c.4715G>A p.R1572Q Missense 11/11 -
4-106196499-C-A TET2 c.4832C>A p.S1611Y Missense 11/11 -
4-106196967-G-A TET2 c.5300G>A p.S1767N Missense 11/11 -
4-106196972-G-C TET2 c.5305G>C p.A1769P Missense 11/11 -
4-106197386-A-T TET2 c.5719A>T p.M1907L Missense 11/11 -
4-106197557-T-C TET2 c.5890T>C p.Y1964H Missense 11/11 -
4-106190861-A-C TET2 c.4139A>C p.H1380P Missense 9/11 -
4-106156349-A-T TET2 c.1250A>T p.Q417L Missense 3/11 -
4-106162520-G-T TET2 c.3434G>T p.G1145V Missense 4/11 -
4-106162528-T-C TET2 c.3442T>C p.Y1148H Missense 4/11 -
4-106162541-G-T TET2 c.3455G>T p.G1152V Missense 4/11 -
4-106162544-C-A TET2 c.3458C>A p.A1153E Missense 4/11 -
4-106162553-A-T TET2 c.3467A>T p.N1156I Missense 4/11 -
4-106162559-C-A TET2 c.3473C>A p.A1158E Missense 4/11 -
4-106162585-A-G TET2 c.3499A>G p.R1167G Missense 4/11 -
4-106162586-G-T TET2 c.3500G>T p.R1167M Missense 4/11 -
4-106164071-C-G TET2 c.3581C>G p.P1194R Missense 5/11 -
4-106164079-A-G TET2 c.3589A>G p.K1197E Missense 5/11 -
4-106164764-G-A TET2 c.3632G>A p.C1211Y Missense 6/11 -
4-106164787-C-T TET2 c.3655C>T p.H1219Y Missense 6/11 -
4-106164791-C-T TET2 c.3659C>T p.T1220I Missense 6/11 -
4-106164817-C-A TET2 c.3685C>A p.L1229I Missense 6/11 -
4-106164829-T-G TET2 c.3697T>G p.W1233G Missense 6/11 -
4-106164875-T-A TET2 c.3743T>A p.L1248H Missense 6/11 -
4-106164878-C-A TET2 c.3746C>A p.T1249N Missense 6/11 -
4-106164902-C-T TET2 c.3770C>T p.T1257M Missense 6/11 -
4-106164923-C-T TET2 c.3791C>T p.A1264V Missense 6/11 -
4-106180784-G-A TET2 c.3812G>A p.C1271Y Missense 7/11 -
4-106180796-G-A TET2 c.3824G>A p.G1275E Missense 7/11 -
4-106180834-G-A TET2 c.3862G>A p.G1288S Missense 7/11 -
4-106180835-G-T TET2 c.3863G>T p.G1288V Missense 7/11 -
4-106180871-T-C TET2 c.3899T>C p.F1300S Missense 7/11 -
4-106180901-A-C TET2 c.3929A>C p.K1310T Missense 7/11 -
4-106180926-G-C TET2 c.3954G>C p.E1318D Missense 7/11 -
4-106182926-T-C TET2 c.3965T>C p.L1322P Missense 8/11 -
4-106190776-G-A TET2 c.4054G>A p.E1352K Missense 9/11 -
4-106190815-G-A TET2 c.4093G>A p.G1365S Missense 9/11 -
4-106190816-G-T TET2 c.4094G>T p.G1365V Missense 9/11 -
4-106190831-G-T TET2 c.4109G>T p.G1370V Missense 9/11 -
4-106190854-T-C TET2 c.4132T>C p.C1378R Missense 9/11 -
4-106190882-A-T TET2 c.4160A>T p.N1387I Missense 9/11 -
4-106193751-G-C TET2 c.4213G>C p.E1405Q Missense 10/11 -
4-106193780-G-C TET2 c.4242G>C p.Q1414H Missense 10/11 -
4-106193788-T-G TET2 c.4250T>G p.V1417G Missense 10/11 -
4-106193899-T-G TET2 c.4361T>G p.V1454G Missense 10/11 -
4-106197224-A-G TET2 c.5557A>G p.S1853G Missense 11/11 -
4-106197272-G-T TET2 c.5605G>T p.G1869W Missense 11/11 -
4-106197275-T-C TET2 c.5608T>C p.S1870P Missense 11/11 -
4-106197282-T-G TET2 c.5615T>G p.L1872R Missense 11/11 -
4-106197290-T-G TET2 c.5623T>G p.C1875G Missense 11/11 -
4-106197302-G-A TET2 c.5635G>A p.E1879K Missense 11/11 -
4-106197303-A-C TET2 c.5636A>C p.E1879A Missense 11/11 -
4-106197318-C-T TET2 c.5651C>T p.T1884I Missense 11/11 -
4-106197359-T-C TET2 c.5692T>C p.S1898P Missense 11/11 -
4-106197357-T-G TET2 c.5690T>G p.I1897S Missense 11/11 -
4-106197360-C-A TET2 c.5693C>A p.S1898Y Missense 11/11 -
4-106197360-C-T TET2 c.5693C>T p.S1898F Missense 11/11 -
4-106197365-G-T TET2 c.5698G>T p.V1900F Missense 11/11 -
4-106197366-T-G TET2 c.5699T>G p.V1900G Missense 11/11 -
4-106197387-T-C TET2 c.5720T>C p.M1907T Missense 11/11 -
4-106197402-A-G TET2 c.5735A>G p.H1912R Missense 11/11 -
4-106164869-C-T TET2 c.3737C>T p.S1246L Missense 6/11 -
4-106164003-G-T TET2 c.3513G>T p.K1171N Missense 5/11 -
4-106190822-C-T TET2 c.4100C>T p.P1367L Missense 9/11 -
4-106190819-G-T TET2 c.4097G>T p.R1366L Missense 9/11 -
12-133226340-C-T POLE c.3718G>A p.E1240K Missense 30/49 -
7-55221788-G-A EGFR c.832G>A p.D278N Missense 7/28 -
10-70405539-A-G TET1 c.3053A>G p.N1018S Missense 4/12 -
17-7574024-G-A TP53 c.1003C>T p.R335C Missense 10/11 -
2-25470546-T-A DNMT3A c.928A>T p.I310F Missense 8/23 -
17-7578442-T-A TP53 c.488A>T p.Y163F Missense 5/11 -
17-7576896-T-TG TP53 c.949_949dupC p.Q317Pfs*20 Frameshift 9/11 -
4-106157745-CT-C TET2 c.2649delT p.Q884Kfs*37 Frameshift 3/11 -
17-7579574-T-TG TP53 c.112dupC p.Q38Pfs*5 Frameshift 4/11 -
2-25467157-TG-T DNMT3A c.1717delC p.Q573Rfs*78 Frameshift 15/23 -
4-72635091-CA-C GC c.85delT p.C29Afs*17 Frameshift 2/13 -
4-106156935-T-TG TET2 c.1842dupG p.L615Afs*23 Frameshift 3/11 -
2-198267373-G-A SF3B1 c.1984C>T p.H662Y Missense 14/25 -
2-25457179-G-T DNMT3A c.2708C>A p.A903D Missense 23/23 -
4-106156222-G-T TET2 c.1123G>T p.E375* Nonsense 3/11 -
4-106155427-A-C TET2 c.328A>C p.K110Q Missense 3/11 -
7-148544318-G-A EZH2 c.73C>T p.R25* Nonsense 2/20 -
2-198267306-C-T SF3B1 c.2051G>A p.R684K Missense 14/25 -
19-33792453-C-A CEBPA c.868G>T p.E290* Nonsense 1/1 -
13-28592629-T-G FLT3 c.2516A>C p.D839A Missense 20/24 -
5-137801605-C-T EGR1 c.155C>T p.A52V Missense 1/2 -
3-128202748-C-G GATA2 c.972G>C p.K324N Missense 4/6 -
21-36206815-G-A RUNX1 c.697C>T p.R233C Missense 7/9 -
12-112888201-A-T PTPN11 c.217A>T p.T73S Missense 3/16 -
19-17953978-G-A JAK3 c.424C>T p.R142C Missense 5/24 -
7-148508754-A-T EZH2 c.1910T>A p.V637E Missense 16/20 -
5-137802853-G-A EGR1 c.715G>A p.A239T Missense 2/2 -
4-106196770-G-T TET2 c.5103G>T p.M1701I Missense 11/11 -
9-21971170-A-C CDKN2A c.188T>G p.L63R Missense 2/3 -
17-74732981-G-A SRSF2 c.262C>T p.Q88* Nonsense 1/3 -
X-123195662-C-T STAG2 c.1576C>T p.L526F Missense 17/35 -
21-36206776-T-C RUNX1 c.736A>G p.T246A Missense 7/9 -
17-7577051-T-G TP53 c.887A>C p.H296P Missense 8/11 -
4-106163998-C-T TET2 c.3508C>T p.Q1170* Nonsense 5/11 -
17-74733208-C-A SRSF2 c.35G>T p.G12V Missense 1/3 -
17-74732995-C-T SRSF2 c.248G>A p.R83H Missense 1/3 -
2-25497933-A-AC DNMT3A c.515_515dupG p.G173Wfs*43 Frameshift 6/23 -
4-106164861-ACT-A TET2 c.3732_3733delCT p.Y1245Lfs*22 Frameshift 6/11 -
17-7579709-G-GT TP53 c.85_85dupA p.N29Kfs*14 Frameshift 3/11 -
4-106197396-CA-C TET2 c.5733delA p.K1911Nfs*39 Frameshift 11/11 -
19-33793024-GC-G CEBPA c.296delG p.G99Afs*61 Frameshift 1/1 -
21-36259198-AG-A RUNX1 c.292delC p.L98Sfs*24 Frameshift 4/9 -
4-106157296-T-TC TET2 c.2200_2200dupC p.Q734Pfs*20 Frameshift 3/11 -
4-106196683-AC-A TET2 c.5018delC p.P1673Hfs*22 Frameshift 11/11 -
1-43815035-C-T MPL c.1565+5C>T - IntronicSNV - 10/11
2-25462018-T-C DNMT3A c.2389A>G p.N797D Missense 20/23 -
2-25466799-C-T DNMT3A c.1904G>A p.R635Q Missense 16/23 -
20-31022598-C-T ASXL1 c.2083C>T p.Q695* Nonsense 13/13 -
2-25457281-C-A DNMT3A c.2606G>T p.G869V Missense 23/23 -
2-25470494-C-T DNMT3A c.980G>A p.W327* Nonsense 8/23 -
4-106157404-C-T TET2 c.2305C>T p.Q769* Nonsense 3/11 -
7-148508719-C-T EZH2 c.1945G>A p.E649K Missense 16/20 -
2-25463297-AAAG-A DNMT3A c.2193_2195delCTT p.F732del InFrameDeletion 19/23 -
4-106193849-G-GA TET2 c.4317_4317dup p.R1440Tfs*38 Frameshift 10/11 -
20-31022936-TC-T ASXL1 c.2423delC p.P808Lfs*10 Frameshift 13/13 -
7-101821919-CA-C CUX1 c.1004delA p.N335Tfs*20 Frameshift 11/24 -
2-25469529-G-GC DNMT3A c.1238_1238dup p.F414Lfs*7 Frameshift 10/23 -
4-106155579-T-TA TET2 c.483_483dup p.D162Rfs*9 Frameshift 3/11 -
4-106155748-TC-T TET2 c.651delC p.V218Wfs*32 Frameshift 3/11 -
4-106155778-G-GA TET2 c.685_685dup p.T229Nfs*25 Frameshift 3/11 -
4-106156758-G-GC TET2 c.1664_1664dup p.T556Nfs*11 Frameshift 3/11 -
3-105452880-C-T CBLB c.1176G>A p.M392I Missense 9/19 -
17-7579371-T-G TP53 c.316A>C p.S106R Missense 4/11 -
9-21971173-A-C CDKN2A c.185T>G p.L62R Missense 2/3 -
17-7579455-C-G TP53 c.232G>C p.A78P Missense 4/11 -
17-7578423-C-G TP53 c.507G>C p.M169I Missense 5/11 -
17-7578493-C-G TP53 c.437G>C p.W146S Missense 5/11 -
16-68835713-G-A CDH1 c.304G>A p.A102T Missense 3/16 -
11-534226-C-T HRAS c.97G>A p.D33N Missense 2/6 -
9-21974757-G-C CDKN2A c.70C>G p.R24G Missense 1/3 -
2-209113233-A-T IDH1 c.274T>A p.W92R Missense 4/10 -
17-7578450-C-G TP53 c.480G>C p.M160I Missense 5/11 -
9-139391424-G-A NOTCH1 c.6767C>T p.A2256V Missense 34/34 -
1-115256491-T-A NRAS c.220A>T p.T74S Missense 3/7 -
7-151878610-G-A KMT2C c.6335C>T p.P2112L Missense 36/59 -
17-7572986-G-T TP53 c.1123C>A p.Q375K Missense 11/11 -
17-7577136-T-A TP53 c.802A>T p.N268Y Missense 8/11 -
2-198267707-A-T SF3B1 c.1772T>A p.V591E Missense 13/25 -
9-139390567-T-G NOTCH1 c.7624A>C p.S2542R Missense 34/34 -
2-198267752-A-G SF3B1 c.1727T>C p.V576A Missense 13/25 -
2-198266854-C-T SF3B1 c.2078G>A p.G693D Missense 15/25 -
7-148511103-T-C EZH2 c.1799A>G p.D600G Missense 15/20 -
12-12038903-G-A ETV6 c.1196G>A p.R399H Missense 7/8 -
7-148543657-C-A EZH2 c.151G>T p.E51* Nonsense 3/20 -
4-106196546-C-T TET2 c.4879C>T p.Q1627* Nonsense 11/11 -
4-106196566-C-A TET2 c.4899C>A p.C1633* Nonsense 11/11 -
4-106196705-C-T TET2 c.5038C>T p.Q1680* Nonsense 11/11 -
4-106197248-G-T TET2 c.5581G>T p.G1861* Nonsense 11/11 -
19-33792350-A-T CEBPA c.971T>A p.L324Q Missense 1/1 -
19-33792731-GGCGGGT-G CEBPA c.584_589delACCCGC p.H195_P196del InFrameDeletion 1/1 -
4-106156675-C-T TET2 c.1576C>T p.Q526* Nonsense 3/11 -
4-106157573-C-G TET2 c.2474C>G p.S825* Nonsense 3/11 -
X-39914699-C-A BCOR c.4663G>T p.D1555Y Missense 12/15 -
11-119148917-A-T CBL c.1137A>T p.Q379H Missense 8/16 -
11-119149352-A-G CBL c.1360A>G p.N454D Missense 9/16 -
20-31022415-A-T ASXL1 c.1900A>T p.R634* Nonsense 13/13 -
21-36206890-G-A RUNX1 c.622C>T p.Q208* Nonsense 7/9 -
2-198267484-G-T SF3B1 c.1873C>A p.R625S Missense 14/25 -
X-15838398-G-T ZRSR2 c.896G>T p.C299F Missense 10/11 -
X-15838406-T-C ZRSR2 c.904T>C p.C302R Missense 10/11 -
X-15838407-G-A ZRSR2 c.905G>A p.C302Y Missense 10/11 -
X-15838436-T-C ZRSR2 c.934T>C p.C312R Missense 10/11 -
17-7578184-G-T TP53 c.665C>A p.P222Q Missense 6/11 -
17-74733016-T-G SRSF2 c.227A>C p.D76A Missense 1/3 -
17-74733173-G-T SRSF2 c.70C>A p.R24S Missense 1/3 -
X-15841313-G-A ZRSR2 c.1397G>A p.R466K Missense 11/11 -
X-15841038-C-A ZRSR2 c.1122C>A p.Y374* Nonsense 11/11 -
X-15841222-G-A ZRSR2 c.1306G>A p.G436S Missense 11/11 -
X-15808643-T-C ZRSR2 c.25T>C p.F9L Missense 1/11 -
X-15833978-G-T ZRSR2 c.736G>T p.E246* Nonsense 8/11 -
X-15841258-CGCA-C ZRSR2 c.1344_1346delCAG p.R449del InFrameDeletion 11/11 -
21-36164848-A-G RUNX1 c.1027T>C p.S343P Missense 9/9 -
21-36164790-G-T RUNX1 c.1085C>A p.S362* Nonsense 9/9 -
21-36164635-A-C RUNX1 c.1240T>G p.Y414D Missense 9/9 -
21-36164611-C-A RUNX1 c.1264G>T p.E422* Nonsense 9/9 -
21-36164575-T-G RUNX1 c.1300A>C p.N434H Missense 9/9 -
21-36164569-A-G RUNX1 c.1306T>C p.S436P Missense 9/9 -
21-36164566-T-G RUNX1 c.1309A>C p.T437P Missense 9/9 -
4-106190818-C-T TET2 c.4096C>T p.R1366C Missense 9/11 -
4-106190903-T-A TET2 c.4181T>A p.L1394* Nonsense 9/11 -
4-106190848-G-T TET2 c.4126G>T p.D1376Y Missense 9/11 -
4-106196300-C-T TET2 c.4633C>T p.Q1545* Nonsense 11/11 -
4-106196303-C-T TET2 c.4636C>T p.Q1546* Nonsense 11/11 -
4-106156069-C-T TET2 c.970C>T p.Q324* Nonsense 3/11 -
4-106156087-G-T TET2 c.988G>T p.E330* Nonsense 3/11 -
17-7579482-C-T TP53 c.205G>A p.A69T Missense 4/11 -
4-106157768-C-A TET2 c.2669C>A p.S890* Nonsense 3/11 -
4-106157791-G-T TET2 c.2692G>T p.G898* Nonsense 3/11 -
4-106157986-C-T TET2 c.2887C>T p.Q963* Nonsense 3/11 -
4-106158018-C-A TET2 c.2919C>A p.C973* Nonsense 3/11 -
21-36259186-A-G RUNX1 c.305T>C p.L102P Missense 4/9 -
21-36259175-A-T RUNX1 c.316T>A p.W106R Missense 4/9 -
21-36259160-T-G RUNX1 c.331A>C p.T111P Missense 4/9 -
21-36259156-A-T RUNX1 c.335T>A p.L112Q Missense 4/9 -
21-36252973-A-C RUNX1 c.389T>G p.V130G Missense 5/9 -
21-36252941-A-G RUNX1 c.421T>C p.S141P Missense 5/9 -
21-36252866-G-C RUNX1 c.496C>G p.R166G Missense 5/9 -
7-148506435-T-A EZH2 c.2077A>T p.N693Y Missense 18/20 -
7-148525838-G-A EZH2 c.619C>T p.R207* Nonsense 6/20 -
7-148544317-C-A EZH2 c.74G>T p.R25L Missense 2/20 -
7-148516737-T-C EZH2 c.950A>G p.E317G Missense 9/20 -
4-106164831-G-T TET2 c.3699G>T p.W1233C Missense 6/11 -
4-106164928-A-G TET2 c.3796A>G p.N1266D Missense 6/11 -
4-106180845-G-A TET2 c.3873G>A p.W1291* Nonsense 7/11 -
X-123220559-TA-T STAG2 c.3222delA p.K1074Nfs*31 Frameshift 30/35 -
4-106156211-T-TA TET2 c.1116_1116dup p.Q373Tfs*3 Frameshift 3/11 -
4-106156333-CT-C TET2 c.1236delT p.P413Hfs*14 Frameshift 3/11 -
4-106156364-GA-G TET2 c.1270delA p.S424Afs*3 Frameshift 3/11 -
12-12022501-T-TC ETV6 c.613_613dupC p.L205Pfs*12 Frameshift 5/8 -
4-106196520-AC-A TET2 c.4856delC p.P1619Lfs*4 Frameshift 11/11 -
4-106197002-GC-G TET2 c.5338delC p.L1780Cfs*40 Frameshift 11/11 -
4-106197244-TG-T TET2 c.5582delG p.G1861Efs*26 Frameshift 11/11 -
4-106155656-AG-A TET2 c.561delG p.S189Vfs*18 Frameshift 3/11 -
4-106197271-TG-T TET2 c.5607delG p.S1870Qfs*17 Frameshift 11/11 -
2-25469539-GC-G DNMT3A c.1228delG p.A410Pfs*241 Frameshift 10/23 -
4-106156613-CA-C TET2 c.1516delA p.R506Dfs*27 Frameshift 3/11 -
4-106156651-A-AT TET2 c.1557_1557dup p.G520Wfs*2 Frameshift 3/11 -
4-106157144-AT-A TET2 c.2049delT p.Q684Nfs*16 Frameshift 3/11 -
4-106157296-TC-T TET2 c.2200delC p.Q734Rfs*17 Frameshift 3/11 -
4-106157497-C-CA TET2 c.2399_2399dup p.H800Qfs*2 Frameshift 3/11 -
4-106157317-CA-C TET2 c.2222delA p.N741Tfs*10 Frameshift 3/11 -
X-39934126-CT-C BCOR c.472delA p.S158Vfs*3 Frameshift 4/15 -
20-31022638-AG-A ASXL1 c.2125delG p.A709Pfs*16 Frameshift 13/13 -
20-31022678-GC-G ASXL1 c.2165delC p.P722Lfs*3 Frameshift 13/13 -
20-31022751-GC-G ASXL1 c.2238delC p.S747Pfs*25 Frameshift 13/13 -
20-31022837-AT-A ASXL1 c.2324delT p.L775* Frameshift 13/13 -
20-31022927-AC-A ASXL1 c.2415delC p.T806Pfs*12 Frameshift 13/13 -
20-31022438-CGGAGG-C ASXL1 c.1926_1930delAGGGG p.G644Wfs*12 Frameshift 13/13 -
21-36171599-TGA-T RUNX1 c.964_965delTC p.S322Nfs*277 Frameshift 8/9 -
X-15809095-GA-G ZRSR2 c.83delA p.K28Rfs*10 Frameshift 2/11 -
X-123191804-GT-G STAG2 c.1400delT p.F467Sfs*3 Frameshift 15/35 -
20-31024026-AG-A ASXL1 c.3514delG p.A1172Lfs*2 Frameshift 13/13 -
X-15841123-AG-A ZRSR2 c.1212delG p.K405Rfs*? Frameshift 11/11 -
21-36164845-CG-C RUNX1 c.1029delC p.D344Tfs*250 Frameshift 9/9 -
4-106193801-CA-C TET2 c.4266delA p.V1423Sfs*25 Frameshift 10/11 -
4-106194006-GA-G TET2 c.4472delA p.K1491Rfs*80 Frameshift 10/11 -
4-106196207-CT-C TET2 c.4544delT p.L1515Cfs*56 Frameshift 11/11 -
4-106196445-GC-G TET2 c.4781delC p.P1594Lfs*2 Frameshift 11/11 -
4-106196482-AG-A TET2 c.4817delG p.G1606Vfs*4 Frameshift 11/11 -
4-106196328-CAG-C TET2 c.4664_4665delAG p.E1555Vfs*22 Frameshift 11/11 -
4-106197367-CT-C TET2 c.5704delT p.Y1902Tfs*6 Frameshift 11/11 -
4-106156081-GT-G TET2 c.987delT p.F329Lfs*18 Frameshift 3/11 -
17-7578490-AC-A TP53 c.439delG p.V147Lfs*23 Frameshift 5/11 -
4-106157878-GT-G TET2 c.2784delT p.P929Lfs*24 Frameshift 3/11 -
4-106158201-GT-G TET2 c.3105delT p.H1036Tfs*19 Frameshift 3/11 -
4-106158289-GT-G TET2 c.3194delT p.L1065* Frameshift 3/11 -
4-106158338-CT-C TET2 c.3242delT p.L1081* Frameshift 3/11 -
4-106158364-GA-G TET2 c.3269delA p.K1090Rfs*16 Frameshift 3/11 -
4-106158407-AT-A TET2 c.3312delT p.F1104Lfs*2 Frameshift 3/11 -
3-128204991-TC-T GATA2 c.449delG p.G150Efs*68 Frameshift 3/6 -
7-148525943-CA-C EZH2 c.513delT p.F171Lfs*5 Frameshift 6/20 -
4-106180810-AC-A TET2 c.3840delC p.C1281Vfs*82 Frameshift 7/11 -
17-7579572-C-T TP53 c.115G>A p.A39T Missense 4/11 -
8-93029605-C-T RUNX1T1 c.1-37G>A - IntronicSNV - 1/10
11-534332-G-A HRAS c.1-10C>T - 5-UTRSNV 2/6 -
4-106157342-T-A TET2 c.2243T>A p.L748* Nonsense 3/11 -
4-106157342-T-G TET2 c.2243T>G p.L748* Nonsense 3/11 -
X-32466625-G-A DMD c.3734C>T p.T1245I Missense 27/79 -
X-76778837-T-A ATRX c.6742A>T p.I2248F Missense 31/35 -
17-45266535-T-C CDC27 c.4A>G p.T2A Missense 1/19 -
12-11992152-C-T ETV6 c.242C>T p.P81L Missense 3/8 -
12-12043963-C-G ETV6 c.1342C>G p.Q448E Missense 8/8 -
13-39453010-G-A FREM2 c.8902G>A p.V2968I Missense 23/24 -
13-39433574-G-A FREM2 c.7366G>A p.D2456N Missense 14/24 -
13-39263646-G-A FREM2 c.2165G>A p.R722K Missense 1/24 -
13-39422624-C-T FREM2 c.6196C>T p.R2066C Missense 8/24 -
1-45797472-C-G MUTYH c.963G>C p.W321C Missense 12/16 -
1-45797460-C-G MUTYH c.975G>C p.L325= Synonymous 12/16 -
14-75516160-C-A MLH3 c.199G>T p.E67* Nonsense 2/13 -
20-31023108-G-A ASXL1 c.2593G>A p.E865K Missense 13/13 -
13-39264083-C-G FREM2 c.2602C>G p.L868V Missense 1/24 -
13-39263789-G-A FREM2 c.2308G>A p.V770M Missense 1/24 -
13-39424253-C-G FREM2 c.6458C>G p.T2153S Missense 9/24 -
7-55223600-G-A EGFR c.967G>A p.V323I Missense 8/28 -
5-67522581-G-A PIK3R1 c.78G>A p.L26= Synonymous 2/16 -
2-48026740-C-G MSH6 c.1618C>G p.L540V Missense 4/10 -
18-48604815-C-T SMAD4 c.1637C>T p.A546V Missense 12/12 -
17-7578245-G-C TP53 c.604C>G p.R202G Missense 6/11 -
3-37053539-A-G MLH1 c.626A>G p.N209S Missense 8/19 -
17-37876059-A-G ERBB2 c.1918A>G p.K640E Missense 16/27 -
5-137803603-G-A EGR1 c.1465G>A p.G489S Missense 2/2 -
17-7572929-A-C TP53 c.1180T>G p.*394Gext*9 Missense 11/11 -
17-7573939-C-T TP53 c.1088G>A p.R363K Missense 10/11 -
17-7577031-T-C TP53 c.907A>G p.S303G Missense 8/11 -
17-7577571-ATGTAGT-A TP53 c.704_709delACTACA p.N235_Y236del InFrameDeletion 7/11 -
17-7579437-C-A TP53 c.250G>T p.A84S Missense 4/11 -
21-36206817-C-T RUNX1 c.695G>A p.R232Q Missense 7/9 -
17-7578422-T-C TP53 c.508A>G p.T170A Missense 5/11 -
17-7578430-T-G TP53 c.500A>C p.Q167P Missense 5/11 -
17-7578491-C-T TP53 c.439G>A p.V147I Missense 5/11 -
17-7578494-A-C TP53 c.436T>G p.W146G Missense 5/11 -
17-7579332-C-G TP53 c.355G>C p.A119P Missense 4/11 -
17-7579338-C-T TP53 c.349G>A p.G117R Missense 4/11 -
17-7579398-C-A TP53 c.289G>T p.V97F Missense 4/11 -
21-36206722-G-A RUNX1 c.790C>T p.Q264* Nonsense 7/9 -
4-106164907-A-G TET2 c.3775A>G p.T1259A Missense 6/11 -
7-148523591-G-A EZH2 c.862C>T p.R288* Nonsense 8/20 -
17-74733242-T-C SRSF2 c.1A>G p.M1? Missense 1/3 -
4-106164788-A-C TET2 c.3656A>C p.H1219P Missense 6/11 -
2-198267283-G-T SF3B1 c.2074C>A p.H692N Missense 14/25 -
2-25469922-G-A DNMT3A c.1120C>T p.Q374* Nonsense 9/23 -
21-36231798-T-C RUNX1 c.586A>G p.T196A Missense 6/9 -
5-137803610-C-G EGR1 c.1472C>G p.P491R Missense 2/2 -
9-21971206-A-C CDKN2A c.152T>G p.V51G Missense 2/3 -
19-17954643-G-C JAK3 c.251C>G p.P84R Missense 3/24 -
7-148504789-C-A EZH2 c.2205G>T p.Q735H Missense 20/20 -
12-53207628-G-A KRT4 c.215C>T p.A72V Missense 1/9 -
7-151927016-T-C KMT2C c.2968A>G p.S990G Missense 18/59 -
11-119149229-G-T CBL c.1237G>T p.G413C Missense 9/16 -
22-23656211-C-T BCR c.3514C>T p.P1172S Missense 21/23 -
1-45798306-C-G MUTYH c.546G>C p.Q182H Missense 8/16 -
10-27306492-A-G ANKRD26 c.4445T>C p.I1482T Missense 30/34 -
5-176636931-G-T NSD1 c.1531G>T p.V511L Missense 5/23 -
9-133759793-G-A ABL1 c.2116G>A p.G706S Missense 11/11 -
12-133225558-T-C POLE c.4106A>G p.N1369S Missense 32/49 -
11-17118687-T-C PIK3C2A c.4243A>G p.T1415A Missense 27/33 -
20-31023531-G-T ASXL1 c.3016G>T p.E1006* Nonsense 13/13 -
9-21974785-G-C CDKN2A c.42C>G p.D14E Missense 1/3 -
5-140480355-A-G PCDHB3 c.122A>G p.K41R Missense 1/1 -
2-198266584-C-A SF3B1 c.2252G>T p.G751V Missense 16/25 -
2-25469982-A-G DNMT3A c.1060T>C p.F354L Missense 9/23 -
2-25469980-G-C DNMT3A c.1062C>G p.F354L Missense 9/23 -
11-5068431-G-A OR52J3 c.676G>A p.V226I Missense 1/1 -
11-5068297-G-A OR52J3 c.542G>A p.C181Y Missense 1/1 -
17-41256270-T-C BRCA1 c.310A>G p.S104G Missense 6/23 -
1-22405030-TG-AT CDC42 c.59_60delTGinsAT p.L20H Missense 2/6 -
2-192701407-G-C CAVIN2 c.520C>G p.Q174E Missense 2/2 -
3-100972610-C-T IMPG2 c.1169G>A p.R390H Missense 11/19 -
13-95034749-G-A GPC6 c.1234G>A p.V412M Missense 7/9 -
X-123184980-G-T STAG2 c.1027G>T p.V343L Missense 12/35 -
7-101891978-G-A CUX1 c.4174G>A p.E1392K Missense 24/24 -
4-106180844-G-A TET2 c.3872G>A p.W1291* Nonsense 7/11 -
7-101891987-C-A CUX1 c.4183C>A p.P1395T Missense 24/24 -
19-33793125-C-G CEBPA c.196G>C p.A66P Missense 1/1 -
10-27353007-T-C ANKRD26 c.1273A>G p.I425V Missense 12/34 -
7-151932990-C-T KMT2C c.2681G>A p.R894Q Missense 16/59 -
5-137803580-C-T EGR1 c.1442C>T p.T481I Missense 2/2 -
17-7576881-G-T TP53 c.965C>A p.P322Q Missense 9/11 -
11-5068662-C-T OR52J3 c.907C>T p.R303* Nonsense 1/1 -
5-137801598-G-A EGR1 c.148G>A p.G50S Missense 1/2 -
22-23523581-G-T BCR c.434G>T p.R145L Missense 1/23 -
6-45390486-AGGCGGCGGCGGCGGCTGC-A RUNX2 c.243_260del18 p.A84_A89del InFrameDeletion 3/9 -
17-7578455-C-CG TP53 c.474_474dup p.A159Rfs*22 Frameshift 5/11 -
X-76890149-GT-G ATRX c.4744delA p.T1582Qfs*24 Frameshift 17/35 -
20-31024509-G-GT ASXL1 c.3999_3999dupT p.P1334Sfs*37 Frameshift 13/13 -
17-7579874-A-AG TP53 c.38_38dup p.L14Sfs*15 Frameshift 2/11 -
17-7579472-G-GC TP53 c.214_215insG p.P72Rfs*77 Frameshift 4/11 -
4-106197345-AC-A TET2 c.5682delC p.T1895Pfs*13 Frameshift 11/11 -
4-106196245-G-GCCCA TET2 c.4579_4580insCCAC p.Q1527Pfs*52 Frameshift 11/11 -
X-123164816-TA-T STAG2 c.135delA p.G46Afs*25 Frameshift 5/35 -
2-25469613-CG-C DNMT3A c.1154delC p.P385Rfs*22 Frameshift 10/23 -
4-106156060-AC-A TET2 c.961delC p.Q321Nfs*26 Frameshift 3/11 -
4-106157796-TA-T TET2 c.2702delA p.N901Ifs*20 Frameshift 3/11 -
X-39911575-TG-T BCOR c.5054delC p.P1685Qfs*40 Frameshift 15/15 -
X-39937163-AG-A BCOR c.19delC p.L7Cfs*9 Frameshift 2/15 -
X-15809125-T-C ZRSR2 c.110T>C p.L37P Missense 2/11 -
12-112926854-A-C PTPN11 c.1474A>C p.K492Q Missense 13/16 -
19-33793093-C-A CEBPA c.228G>T p.E76D Missense 1/1 -
19-33792755-G-T CEBPA c.566C>A p.P189H Missense 1/1 -
9-5073740-A-T JAK2 c.1819A>T p.K607* Nonsense 14/25 -
19-33792915-C-T CEBPA c.406G>A p.A136T Missense 1/1 -
1-154245863-GGAA-G HAX1 c.119_121delAAG p.E40del InFrameDeletion 2/7 -
11-119077232-GCAC-G CBL c.125_127delACC p.H42del InFrameDeletion 1/16 -
X-76874394-G-T ATRX c.5328C>A p.F1776L Missense 21/35 -
X-76931740-C-T ATRX c.3790G>A p.D1264N Missense 10/35 -
21-36164623-T-G RUNX1 c.1252A>C p.M418L Missense 9/9 -
21-36164623-T-A RUNX1 c.1252A>T p.M418L Missense 9/9 -
X-15841139-A-C ZRSR2 c.1223A>C p.H408P Missense 11/11 -
19-33792920-G-A CEBPA c.401C>T p.A134V Missense 1/1 -
21-36164479-T-G RUNX1 c.1396A>C p.M466L Missense 9/9 -
12-12022817-A-C ETV6 c.923A>C p.H308P Missense 5/8 -
2-25469595-A-T DNMT3A c.1173T>A p.D391E Missense 10/23 -
X-15841231-A-G ZRSR2 c.1315A>G p.S439G Missense 11/11 -
4-72629129-G-C GC c.697C>G p.L233V Missense 6/13 -
X-48652501-C-T GATA1 c.1172C>T p.T391M Missense 6/6 -
X-76872130-C-A ATRX c.5517G>T p.M1839I Missense 22/35 -
2-25470579-T-G DNMT3A c.895A>C p.K299Q Missense 8/23 -
2-25467073-C-T DNMT3A c.1802G>A p.W601* Nonsense 15/23 -
17-7578469-C-G TP53 c.461G>C p.G154A Missense 5/11 -
7-148526871-A-G EZH2 c.433T>C p.F145L Missense 5/20 -
2-25470476-T-G DNMT3A c.998A>C p.D333A Missense 8/23 -
11-118342965-C-A KMT2A c.1091C>A p.S364* Nonsense 3/36 -
11-32414218-G-C WT1 c.1333C>G p.H450D Missense 8/10 -
19-17950471-T-G JAK3 c.1256A>C p.N419T Missense 10/24 -
4-106164808-A-T TET2 c.3676A>T p.I1226F Missense 6/11 -
6-45514899-A-C RUNX2 c.1423A>C p.T475P Missense 9/9 -
19-33792446-T-G CEBPA c.875A>C p.N292T Missense 1/1 -
19-33792338-A-C CEBPA c.983T>G p.V328G Missense 1/1 -
19-33793134-C-T CEBPA c.187G>A p.D63N Missense 1/1 -
19-33792257-C-A CEBPA c.1064G>T p.G355V Missense 1/1 -
2-25462068-A-G DNMT3A c.2339T>C p.I780T Missense 20/23 -
2-25505579-A-T DNMT3A c.179T>A p.V60E Missense 4/23 -
2-25468159-T-C DNMT3A c.1517A>G p.H506R Missense 13/23 -
2-25505541-A-G DNMT3A c.217T>C p.S73P Missense 4/23 -
2-25464549-A-G DNMT3A c.1964T>C p.I655T Missense 17/23 -
2-25505574-T-C DNMT3A c.184A>G p.S62G Missense 4/23 -
2-25464561-T-C DNMT3A c.1952A>G p.K651R Missense 17/23 -
2-25505538-T-C DNMT3A c.220A>G p.K74E Missense 4/23 -
2-198266173-T-A SF3B1 c.2447A>T p.K816I Missense 17/25 -
19-33793280-G-C CEBPA c.41C>G p.P14R Missense 1/1 -
2-25458644-G-GC DNMT3A c.2528_2528dupG p.K844Qfs*11 Frameshift 22/23 -
17-7578452-TG-T TP53 c.477delC p.M160Wfs*10 Frameshift 5/11 -
15-91304138-GA-G BLM c.1544delA p.N515Mfs*16 Frameshift 7/22 -
17-7579860-G-GT TP53 c.52dupA p.T18Nfs*11 Frameshift 2/11 -
2-25469633-G-A DNMT3A c.1135C>T p.R379C Missense 10/23 -
16-3820837-T-C CREBBP c.2614A>G p.T872A Missense 14/31 -
7-148524304-A-T EZH2 c.680T>A p.I227N Missense 7/20 -
X-76778851-A-T ATRX c.6728T>A p.I2243K Missense 31/35 -
7-101747704-A-T CUX1 c.495A>T p.E165D Missense 6/24 -
4-106156795-G-T TET2 c.1696G>T p.E566* Nonsense 3/11 -
7-151860331-C-G KMT2C c.10331G>C p.S3444T Missense 43/59 -
11-118376817-C-A KMT2A c.10210C>A p.P3404T Missense 27/36 -
4-106157506-C-A TET2 c.2407C>A p.Q803K Missense 3/11 -
2-198267305-T-A SF3B1 c.2052A>T p.R684S Missense 14/25 -
2-209113309-C-A IDH1 c.198G>T p.K66N Missense 4/10 -
7-148506170-CA-C EZH2 c.2187delT p.F729Lfs*11 Frameshift 19/20 -
4-106155982-GC-G TET2 c.885delC p.C296Vfs*12 Frameshift 3/11 -
5-137801595-C-G EGR1 c.145C>G p.L49V Missense 1/2 -
5-137802727-A-T EGR1 c.589A>T p.N197Y Missense 2/2 -
17-7579858-A-G TP53 c.55T>C p.F19L Missense 2/11 -
5-137802584-T-C EGR1 c.446T>C p.L149S Missense 2/2 -
4-72629597-C-T GC c.530G>A p.S177N Missense 5/13 -
5-137803087-A-T EGR1 c.949A>T p.K317* Nonsense 2/2 -
4-72620801-C-T GC c.1058G>A p.R353K Missense 9/13 -
2-25523101-C-A DNMT3A c.84G>T p.E28D Missense 3/23 -
7-151970858-C-T KMT2C c.944G>A p.G315D Missense 7/59 -
21-36164609-C-G RUNX1 c.1266G>C p.E422D Missense 9/9 -
7-6045556-C-T PMS2 c.130G>A p.E44K Missense 2/15 -
2-25469624-TC-T DNMT3A c.1143delG p.K382Sfs*25 Frameshift 10/23 -
12-25380227-G-GC KRAS c.230_230dup p.F78Lfs*9 Frameshift 3/5 -
17-7578183-CG-C TP53 c.665delC p.P222Rfs*25 Frameshift 6/11 -
12-25398303-G-GT KRAS c.15dupA p.L6Tfs*28 Frameshift 2/5 -
2-25464485-CCG-ACA DNMT3A c.2026_2028delCGGinsTGT p.R676C Missense 17/23 -
2-198266726-G-T SF3B1 c.2206C>A p.R736S Missense 15/25 -
2-198272799-A-C SF3B1 c.1162T>G p.W388G Missense 9/25 -
12-11992167-C-A ETV6 c.257C>A p.T86K Missense 3/8 -
20-31023063-G-T ASXL1 c.2548G>T p.E850* Nonsense 13/13 -
3-128200760-A-C GATA2 c.1045T>G p.C349G Missense 5/6 -
4-106155252-C-A TET2 c.153C>A p.D51E Missense 3/11 -
7-148516688-CA-C EZH2 c.998delT p.L333Wfs*16 Frameshift 9/20 -
2-25462035-GC-G DNMT3A c.2371delG p.A791Pfs*11 Frameshift 20/23 -
X-39922927-T-C BCOR c.3781A>G p.R1261G Missense 8/15 -
2-25497865-G-A DNMT3A c.584C>T p.P195L Missense 6/23 -
12-12022865-C-T ETV6 c.971C>T p.P324L Missense 5/8 -
7-6026969-C-T PMS2 c.1427G>A p.S476N Missense 11/15 -
7-151860142-C-T KMT2C c.10520G>A p.R3507Q Missense 43/59 -
7-151874147-C-CT KMT2C c.8390_8390dup p.E2798Gfs*11 Frameshift 38/59 -
4-106156730-G-A TET2 c.1631G>A p.R544Q Missense 3/11 -
15-91290633-T-C BLM c.11T>C p.V4A Missense 2/22 -
12-112893790-G-A PTPN11 c.679G>A p.E227K Missense 6/16 -
17-7579326-A-C TP53 c.361T>G p.S121A Missense 4/11 -
12-25380192-G-A KRAS c.266C>T p.S89L Missense 3/5 -
X-133511735-C-T PHF6 c.88C>T p.Q30* Nonsense 2/11 -
21-36164872-G-A RUNX1 c.1003C>T p.Q335* Nonsense 9/9 -
19-33792840-T-C CEBPA c.481A>G p.K161E Missense 1/1 -
19-33792361-G-T CEBPA c.960C>A p.D320E Missense 1/1 -
9-139397774-A-T NOTCH1 c.5027T>A p.V1676D Missense 27/34 -
7-148511191-A-T EZH2 c.1711T>A p.C571S Missense 15/20 -
20-31023189-T-G ASXL1 c.2674T>G p.S892A Missense 13/13 -
4-106164029-T-G TET2 c.3539T>G p.V1180G Missense 5/11 -
21-36252878-T-G RUNX1 c.484A>C p.R162= Synonymous 5/9 -
8-133900673-G-A TG c.2621G>A p.G874D Missense 10/48 -
11-64533492-A-C SF1 c.1718T>G p.V573G Missense 13/13 -
X-76813058-C-G ATRX c.6563G>C p.R2188P Missense 30/35 -
5-137802474-C-A EGR1 c.336C>A p.N112K Missense 2/2 -
5-137803289-C-T EGR1 c.1151C>T p.T384I Missense 2/2 -
20-31022350-G-T ASXL1 c.1835G>T p.R612M Missense 13/13 -
2-25457215-C-T DNMT3A c.2672G>A p.R891Q Missense 23/23 -
2-25497874-G-C DNMT3A c.575C>G p.A192G Missense 6/23 -
4-72629561-C-T GC c.566G>A p.C189Y Missense 5/13 -
8-133910003-G-A TG c.3111G>A p.W1037* Nonsense 12/48 -
4-72620149-G-A GC c.1241C>T p.T414I Missense 10/13 -
17-7579844-C-T TP53 c.69G>A p.W23* Nonsense 2/11 -
17-7578547-G-C TP53 c.383C>G p.P128R Missense 5/11 -
19-855753-G-A ELANE c.556G>A p.V186I Missense 4/5 -
8-133881996-G-A TG c.199G>A p.G67S Missense 3/48 -
5-140480966-C-T PCDHB3 c.733C>T p.P245S Missense 1/1 -
8-133885393-T-C TG c.565T>C p.F189L Missense 5/48 -
5-137801479-T-G EGR1 c.29T>G p.L10R Missense 1/2 -
2-25469073-G-A DNMT3A c.1385C>T p.A462V Missense 11/23 -
4-106196366-A-G TET2 c.4699A>G p.N1567D Missense 11/11 -
8-133883748-G-GA TG c.431_431dup p.M146Dfs*20 Frameshift 4/48 -
8-133885456-A-AG TG c.629_629dup p.S210Rfs*21 Frameshift 5/48 -
8-133894192-AG-A TG c.726delG p.R243Gfs*159 Frameshift 6/48 -
8-133894192-A-AG TG c.724_724dup p.R243Afs*5 Frameshift 6/48 -
4-72635075-TG-T GC c.100delC p.H34Ifs*12 Frameshift 2/13 -
X-39913178-A-AG BCOR c.4936_4936dup p.L1646Pfs*6 Frameshift 14/15 -
3-128200023-AG-A GATA2 c.1281delC p.F428Sfs*49 Frameshift 6/6 -
17-7574024-G-GC TP53 c.1000_1000dupG p.R335Afs*2 Frameshift 10/11 -
2-25505430-GC-G DNMT3A c.327delG p.Q110Rfs*52 Frameshift 4/23 -
7-148506209-C-CA EZH2 c.2145_2145dupT p.A717Cfs*14 Frameshift 19/20 -
4-106197505-C-CA TET2 c.5839_5839dupA p.V1949Sfs*7 Frameshift 11/11 -
17-7576882-G-GT TP53 c.962_962dupA p.P322Tfs*15 Frameshift 9/11 -
8-133895187-G-GA TG c.1019_1019dup p.D340Efs*21 Frameshift 8/48 -
8-133899541-TG-T TG c.1928delG p.G643Afs*78 Frameshift 9/48 -
17-74732891-G-C SRSF2 c.352C>G p.R118G Missense 1/3 -
2-25523072-C-T DNMT3A c.113G>A p.R38H Missense 3/23 -
11-108198478-T-C ATM c.7082T>C p.L2361P Missense 48/63 -
17-7579912-T-G TP53 c.1A>C p.M1? Missense 2/11 -
13-48937016-C-T RB1 c.784C>T p.R262W Missense 8/27 -
4-106162585-A-T TET2 c.3499A>T p.R1167W Missense 4/11 -
7-148511064-C-T EZH2 c.1838G>A p.R613Q Missense 15/20 -
21-36206790-T-G RUNX1 c.722A>C p.H241P Missense 7/9 -
X-123195624-T-A STAG2 c.1538T>A p.L513Q Missense 17/35 -
X-123195627-C-A STAG2 c.1541C>A p.T514K Missense 17/35 -
19-33792719-A-T CEBPA c.602T>A p.L201Q Missense 1/1 -
7-148507449-T-G EZH2 c.2005A>C p.S669R Missense 17/20 -
17-7579856-A-T TP53 c.57T>A p.F19L Missense 2/11 -
19-33793320-T-A CEBPA c.1A>T p.M1? Missense 1/1 -
1-115258681-G-T NRAS c.101C>A p.P34H Missense 2/7 -
10-70332154-A-G TET1 c.59A>G p.K20R Missense 2/12 -
7-148525847-C-A EZH2 c.610G>T p.E204* Nonsense 6/20 -
2-25470002-A-C DNMT3A c.1040T>G p.L347R Missense 9/23 -
4-106162570-G-T TET2 c.3484G>T p.E1162* Nonsense 4/11 -
2-25464543-A-G DNMT3A c.1970T>C p.V657A Missense 17/23 -
2-25467099-G-C DNMT3A c.1776C>G p.Y592* Nonsense 15/23 -
7-148516765-G-A EZH2 c.922C>T p.P308S Missense 9/20 -
20-31022438-C-CG ASXL1 c.1925_1925dupG p.G643Rfs*15 Frameshift 13/13 -
4-106157591-AG-A TET2 c.2494delG p.V832Ffs*9 Frameshift 3/11 -
4-106194034-CA-C TET2 c.4500delA p.K1500Nfs*71 Frameshift 10/11 -
12-25398263-A-G KRAS c.56T>C p.L19S Missense 2/5 -
7-152008885-G-A KMT2C c.737C>T p.T246I Missense 5/59 -
7-151873293-G-A KMT2C c.9245C>T p.P3082L Missense 38/59 -
7-148543635-T-A EZH2 c.173A>T p.Q58L Missense 3/20 -
4-106155763-C-T TET2 c.664C>T p.H222Y Missense 3/11 -
5-79950724-G-GCCGCAGCGGCCGCAGCGC MSH3 c.186_187insGCCGCAGCGCCCGCAGCG p.A62_P63insAAAPAA InFrameInsertion 1/24 -
20-31023474-G-T ASXL1 c.2959G>T p.G987* Nonsense 13/13 -
12-25398230-T-G KRAS c.89A>C p.D30A Missense 2/5 -
15-90628533-T-G IDH2 c.1054A>C p.T352P Missense 8/11 -
17-74732494-G-C SRSF2 c.415C>G p.R139G Missense 2/3 -
4-106197114-T-G TET2 c.5447T>G p.L1816* Nonsense 11/11 -
22-41573050-T-G EP300 c.5335T>G p.C1779G Missense 31/31 -
12-133263877-G-C POLE c.25C>G p.R9G Missense 1/49 -
12-133263867-T-C POLE c.35A>G p.D12G Missense 1/49 -
20-31023999-G-T ASXL1 c.3484G>T p.V1162F Missense 13/13 -
17-7576884-T-G TP53 c.962A>C p.K321T Missense 9/11 -
17-7579461-C-G TP53 c.226G>C p.A76P Missense 4/11 -
4-106164784-G-A TET2 c.3652G>A p.G1218S Missense 6/11 -
12-25380298-C-T KRAS c.160G>A p.D54N Missense 3/5 -
20-31024754-A-C ASXL1 c.4239A>C p.L1413F Missense 13/13 -
21-36259222-A-C RUNX1 c.269T>G p.V90G Missense 4/9 -
17-7579431-C-A TP53 c.256G>T p.A86S Missense 4/11 -
2-47643547-A-G MSH2 c.1055A>G p.D352G Missense 6/16 -
11-108175537-T-C ATM c.5632T>C p.S1878P Missense 37/63 -
3-100951687-C-G IMPG2 c.3171G>C p.Q1057H Missense 15/19 -
20-31023321-A-C ASXL1 c.2806A>C p.T936P Missense 13/13 -
20-31022478-A-C ASXL1 c.1963A>C p.T655P Missense 13/13 -
2-198267500-G-T SF3B1 c.1857C>A p.N619K Missense 14/25 -
19-1619350-C-T TCF3 c.1291G>A p.G431S Missense 15/19 -
11-108175544-C-G ATM c.5639C>G p.T1880R Missense 37/63 -
1-24981439-A-G SRRM1 c.1134A>G p.T378= Synonymous 9/17 -
12-133237683-C-G POLE c.2932G>C p.E978Q Missense 25/49 -
15-90631829-T-A IDH2 c.524A>T p.H175L Missense 4/11 -
2-25459834-C-A DNMT3A c.2449G>T p.E817* Nonsense 21/23 -
X-76855004-A-T ATRX c.5832T>A p.S1944R Missense 25/35 -
8-117868522-C-A RAD21 c.820G>T p.G274W Missense 8/14 -
4-106157053-C-T TET2 c.1954C>T p.Q652* Nonsense 3/11 -
19-1627365-A-G TCF3 c.359T>C p.L120P Missense 6/19 -
12-12037408-C-T ETV6 c.1039C>T p.Q347* Nonsense 6/8 -
21-36231792-C-A RUNX1 c.592G>T p.D198Y Missense 6/9 -
20-31023010-A-G ASXL1 c.2495A>G p.D832G Missense 13/13 -
7-148543643-G-C EZH2 c.165C>G p.I55M Missense 3/20 -
7-148511086-A-T EZH2 c.1816T>A p.C606S Missense 15/20 -
2-25470585-A-C DNMT3A c.889T>G p.W297G Missense 8/23 -
X-15833805-C-A ZRSR2 c.563C>A p.S188* Nonsense 8/11 -
X-15833805-C-G ZRSR2 c.563C>G p.S188* Nonsense 8/11 -
3-100951820-G-A IMPG2 c.3038C>T p.P1013L Missense 15/19 -
13-94197611-C-T GPC6 c.256C>T p.L86F Missense 2/9 -
3-142985717-T-C SLC9A9 c.1765A>G p.I589V Missense 16/16 -
4-106157870-A-C TET2 c.2771A>C p.H924P Missense 3/11 -
13-39265512-G-A FREM2 c.4031G>A p.R1344H Missense 1/24 -
8-133899218-CC-TG TG c.1601_1602delCCinsTG p.T534M Missense 9/48 -
11-108188244-G-A ATM c.6343G>A p.V2115I Missense 43/63 -
X-76937124-T-C ATRX c.3624A>G p.I1208M Missense 9/35 -
7-151874581-G-C KMT2C c.7957C>G p.L2653V Missense 38/59 -
20-31023217-TC-T ASXL1 c.2705delC p.P902Hfs*6 Frameshift 13/13 -
4-106196248-GC-G TET2 c.4585delC p.Q1529Sfs*42 Frameshift 11/11 -
4-106157088-CA-C TET2 c.1993delA p.T665Qfs*35 Frameshift 3/11 -
4-106156014-TA-T TET2 c.918delA p.K306Nfs*2 Frameshift 3/11 -
4-106193893-GA-G TET2 c.4359delA p.V1454Sfs*4 Frameshift 10/11 -
17-7579351-GC-G TP53 c.335delG p.G112Afs*11 Frameshift 4/11 -
4-106196699-CT-C TET2 c.5035delT p.Y1679Tfs*16 Frameshift 11/11 -
2-25470497-C-CG DNMT3A c.976dupC p.R326Pfs*17 Frameshift 8/23 -
4-106194070-TG-T TET2 c.4534delG p.A1512Qfs*59 Frameshift 10/11 -
7-148508744-AT-A EZH2 c.1919delA p.N640Mfs*35 Frameshift 16/20 -
2-25459839-A-G DNMT3A c.2444T>C p.L815P Missense 21/23 -
17-74733205-A-C SRSF2 c.38T>G p.M13R Missense 1/3 -
2-48018171-G-C MSH6 c.366G>C p.E122D Missense 2/10 -
2-48018171-G-T MSH6 c.366G>T p.E122D Missense 2/10 -
4-106196756-G-C TET2 c.5089G>C p.G1697R Missense 11/11 -
20-31025055-A-C ASXL1 c.4540A>C p.I1514L Missense 13/13 -
2-25462084-A-G DNMT3A c.2323T>C p.S775P Missense 20/23 -
20-31024902-T-C ASXL1 c.4387T>C p.F1463L Missense 13/13 -
4-106156537-C-A TET2 c.1438C>A p.P480T Missense 3/11 -
20-31024013-C-G ASXL1 c.3498C>G p.S1166R Missense 13/13 -
4-106156277-C-G TET2 c.1178C>G p.S393C Missense 3/11 -
4-106196306-C-T TET2 c.4639C>T p.Q1547* Nonsense 11/11 -
11-108276214-T-C C11orf65 c.502A>G p.R168G Missense 6/9 -
19-33793225-G-GC CEBPA c.95_95dupG p.F33Lfs*75 Frameshift 1/1 -
4-106157384-AC-A TET2 c.2290delC p.Q764Kfs*49 Frameshift 3/11 -
21-36164870-C-G RUNX1 c.1005G>C p.Q335H Missense 9/9 -
19-1621907-TGAG-T TCF3 c.882_884delCTC p.S295del InFrameDeletion 11/19 -
15-74290478-G-A PML c.263G>A p.C88Y Missense 2/9 -
2-25467468-G-C DNMT3A c.1608C>G p.Y536* Nonsense 14/23 -
2-25470503-C-T DNMT3A c.971G>A p.G324D Missense 8/23 -
11-119148914-C-A CBL c.1134C>A p.F378L Missense 8/16 -
12-12022514-A-G ETV6 c.620A>G p.N207S Missense 5/8 -
8-133885349-G-A TG c.521G>A p.G174E Missense 5/48 -
2-209101885-C-T IDH1 c.1163G>A p.R388H Missense 10/10 -
20-31023321-AC-A ASXL1 c.2810delC p.P937Lfs*8 Frameshift 13/13 -
5-137802583-TT-CC EGR1 c.445_446delTTinsCC p.L149P Missense 2/2 -
19-17954649-A-G JAK3 c.245T>C p.F82S Missense 3/24 -
19-33793191-C-G CEBPA c.130G>C p.A44P Missense 1/1 -
2-25470011-A-C DNMT3A c.1031T>G p.L344R Missense 9/23 -
4-106157167-C-T TET2 c.2068C>T p.Q690* Nonsense 3/11 -
17-74732935-C-G SRSF2 c.308G>C p.R103P Missense 1/3 -
20-31022403-C-T ASXL1 c.1888C>T p.H630Y Missense 13/13 -
4-106197218-G-T TET2 c.5551G>T p.E1851* Nonsense 11/11 -
2-25469946-G-T DNMT3A c.1096C>A p.R366S Missense 9/23 -
3-128204997-G-C GATA2 c.444C>G p.S148R Missense 3/6 -
12-12022436-G-T ETV6 c.542G>T p.R181L Missense 5/8 -
20-31379465-C-T DNMT3B c.872C>T p.T291I Missense 8/23 -
X-123205135-A-G STAG2 c.2495A>G p.H832R Missense 25/35 -
5-137802583-T-C EGR1 c.445T>C p.L149= Synonymous 2/2 -
7-6048643-C-T PMS2 c.8G>A p.R3Q Missense 1/15 -
8-117868521-C-A RAD21 c.821G>T p.G274V Missense 8/14 -
17-7579424-G-C TP53 c.263C>G p.A88G Missense 4/11 -
12-12022528-C-T ETV6 c.634C>T p.L212F Missense 5/8 -
2-198267442-G-T SF3B1 c.1915C>A p.L639M Missense 14/25 -
8-133898887-C-T TG c.1270C>T p.P424S Missense 9/48 -
2-198267682-A-T SF3B1 c.1797T>A p.N599K Missense 13/25 -
X-123205067-G-T STAG2 c.2427G>T p.M809I Missense 25/35 -
13-48941715-C-A RB1 c.1025C>A p.T342N Missense 10/27 -
8-133885334-G-T TG c.506G>T p.R169L Missense 5/48 -
7-55224461-C-A EGFR c.1143C>A p.F381L Missense 10/28 -
7-151960176-C-A KMT2C c.1224G>T p.T408= Synonymous 9/59 -
11-32421504-C-T WT1 c.1088G>A p.R368K Missense 6/10 -
7-140501296-A-G BRAF c.776T>C p.F259S Missense 6/18 -
11-118342670-C-A KMT2A c.796C>A p.Q266K Missense 3/36 -
10-89692895-G-T PTEN c.379G>T p.G127* Nonsense 5/9 -
21-36259387-C-G RUNX1 c.104G>C p.S35T Missense 4/9 -
22-24133989-A-G SMARCB1 c.140A>G p.Y47C Missense 2/9 -
10-89692844-C-A PTEN c.328C>A p.Q110K Missense 5/9 -
2-25463220-A-C DNMT3A c.2273T>G p.V758G Missense 19/23 -
2-25462071-A-C DNMT3A c.2336T>G p.M779R Missense 20/23 -
7-148543669-G-T EZH2 c.139C>A p.Q47K Missense 3/20 -
1-115256505-T-C NRAS c.206A>G p.D69G Missense 3/7 -
17-7574020-T-C TP53 c.1007A>G p.E336G Missense 10/11 -
15-90631917-T-C IDH2 c.436A>G p.T146A Missense 4/11 -
19-33793199-T-G CEBPA c.122A>C p.Q41P Missense 1/1 -
19-17946853-C-G JAK3 c.1794G>C p.M598I Missense 14/24 -
21-36252902-G-T RUNX1 c.460C>A p.Q154K Missense 5/9 -
X-76849175-C-A ATRX c.6101G>T p.G2034V Missense 26/35 -
X-123205056-G-T STAG2 c.2416G>T p.G806W Missense 25/35 -
X-123205173-G-T STAG2 c.2533G>T p.D845Y Missense 25/35 -
X-123205089-C-A STAG2 c.2449C>A p.P817T Missense 25/35 -
17-37856558-A-G ERBB2 c.67A>G p.T23A Missense 1/27 -
4-106155308-A-G TET2 c.209A>G p.Q70R Missense 3/11 -
4-106156908-A-C TET2 c.1809A>C p.K603N Missense 3/11 -
2-25468186-C-G DNMT3A c.1490G>C p.C497S Missense 13/23 -
2-25536826-C-T DNMT3A c.28G>A p.G10R Missense 2/23 -
2-25536826-C-G DNMT3A c.28G>C p.G10R Missense 2/23 -
4-106156266-G-T TET2 c.1167G>T p.K389N Missense 3/11 -
8-117864860-G-T RAD21 c.1249C>A p.L417I Missense 10/14 -
8-117868509-G-T RAD21 c.833C>A p.P278H Missense 8/14 -
8-117868485-G-T RAD21 c.857C>A p.P286Q Missense 8/14 -
16-68772221-G-A CDH1 c.70G>A p.E24K Missense 2/16 -
7-2969649-T-G CARD11 c.1630A>C p.I544L Missense 12/25 -
20-31023312-G-T ASXL1 c.2797G>T p.A933S Missense 13/13 -
8-117874112-A-T RAD21 c.342T>A p.F114L Missense 4/14 -
4-106156651-AT-A TET2 c.1557delT p.F519Lfs*14 Frameshift 3/11 -
20-31024746-TG-T ASXL1 c.4233delG p.W1411* Frameshift 13/13 -
4-55593581-GA-G KIT c.1650delA p.K550Nfs*14 Frameshift 11/21 -
17-7573943-T-TC TP53 c.1083_1083dup p.S362Efs*20 Frameshift 10/11 -
5-112174213-T-TA APC c.2926_2926dup p.R976Kfs*9 Frameshift 16/16 -
9-139391798-GC-G NOTCH1 c.6392delG p.G2131Afs*117 Frameshift 34/34 -
4-106157814-T-TA TET2 c.2716_2716dupA p.M906Nfs*18 Frameshift 3/11 -
4-106158160-C-CA TET2 c.3062_3062dupA p.S1023Efs*4 Frameshift 3/11 -
17-7577074-A-AT TP53 c.863_863dupA p.N288Kfs*18 Frameshift 8/11 -
17-7578219-G-GT TP53 c.629_629dupA p.N210Kfs*6 Frameshift 6/11 -
17-7579345-C-CA TP53 c.341_341dupT p.L114Ffs*35 Frameshift 4/11 -
X-123217373-A-T STAG2 c.3027A>T p.K1009N Missense 29/35 -
4-72634031-C-T GC c.248G>A p.C83Y Missense 3/13 -
4-106180901-A-T TET2 c.3929A>T p.K1310M Missense 7/11 -
17-7573941-G-T TP53 c.1086C>A p.S362R Missense 10/11 -
17-7579716-G-T TP53 c.80C>A p.P27H Missense 3/11 -
20-31024387-T-C ASXL1 c.3872T>C p.L1291P Missense 13/13 -
2-25469945-C-T DNMT3A c.1097G>A p.R366H Missense 9/23 -
4-106156940-G-A TET2 c.1841G>A p.G614E Missense 3/11 -
2-25469170-T-G DNMT3A c.1288A>C p.N430H Missense 11/23 -
2-25464475-T-C DNMT3A c.2038A>G p.K680E Missense 17/23 -
X-15836760-C-A ZRSR2 c.822C>A p.Y274* Nonsense 9/11 -
4-106164754-A-T TET2 c.3622A>T p.K1208* Nonsense 6/11 -
X-123200043-G-T STAG2 c.2115G>T p.K705N Missense 22/35 -
17-7579493-C-T TP53 c.194G>A p.R65K Missense 4/11 -
4-106156358-C-A TET2 c.1259C>A p.S420* Nonsense 3/11 -
7-148516713-C-T EZH2 c.974G>A p.C325Y Missense 9/20 -
2-25457217-GC-G DNMT3A c.2669delG p.G890Afs*16 Frameshift 23/23 -
19-33792498-TG-T CEBPA c.822delC p.K275Rfs*43 Frameshift 1/1 -
4-106155540-G-GA TET2 c.444_444dupA p.E149Rfs*13 Frameshift 3/11 -
4-106156208-A-AT TET2 c.1110_1110dupT p.L371Ffs*5 Frameshift 3/11 -
12-25380256-T-A KRAS c.202A>T p.R68W Missense 3/5 -
7-140434555-C-A BRAF c.2143G>T p.E715* Nonsense 18/18 -
7-140434567-G-A BRAF c.2131C>T p.L711F Missense 18/18 -
21-36164619-A-C RUNX1 c.1256T>G p.V419G Missense 9/9 -
2-25462038-C-T DNMT3A c.2369G>A p.R790K Missense 20/23 -
2-25467206-A-G DNMT3A c.1669T>C p.C557R Missense 15/23 -
X-15821854-C-T ZRSR2 c.247C>T p.Q83* Nonsense 4/11 -
17-7577139-G-C TP53 c.799C>G p.R267G Missense 8/11 -
17-7579416-A-T TP53 c.271T>A p.W91R Missense 4/11 -
16-3820630-T-G CREBBP c.2821A>C p.T941P Missense 14/31 -
17-7577590-T-G TP53 c.691A>C p.T231P Missense 7/11 -
7-148543667-C-A EZH2 c.141G>T p.Q47H Missense 3/20 -
21-36259384-G-C RUNX1 c.107C>G p.T36R Missense 4/9 -
7-140453122-T-A BRAF c.1813A>T p.S605C Missense 15/18 -
17-7579425-C-G TP53 c.262G>C p.A88P Missense 4/11 -
7-148515022-T-G EZH2 c.1187A>C p.E396A Missense 10/20 -
2-198267715-A-T SF3B1 c.1764T>A p.Y588* Nonsense 13/25 -
1-115258681-G-C NRAS c.101C>G p.P34R Missense 2/7 -
1-115258741-A-C NRAS c.41T>G p.V14G Missense 2/7 -
17-7579846-A-T TP53 c.67T>A p.W23R Missense 2/11 -
7-148515031-G-A EZH2 c.1178C>T p.T393M Missense 10/20 -
2-25469529-GC-G DNMT3A c.1238delG p.G413Afs*238 Frameshift 10/23 -
4-106180900-A-C TET2 c.3928A>C p.K1310Q Missense 7/11 -
X-123195724-G-T STAG2 c.1638G>T p.R546S Missense 17/35 -
X-123184993-G-T STAG2 c.1040G>T p.C347F Missense 12/35 -
9-21971146-T-A CDKN2A c.212A>T p.N71I Missense 2/3 -
2-25467099-G-T DNMT3A c.1776C>A p.Y592* Nonsense 15/23 -
4-106158147-T-G TET2 c.3048T>G p.C1016W Missense 3/11 -
20-31023718-G-A ASXL1 c.3203G>A p.R1068Q Missense 13/13 -
12-12022435-C-T ETV6 c.541C>T p.R181C Missense 5/8 -
11-108115684-G-A ATM c.832G>A p.V278I Missense 7/63 -
22-24133989-A-C SMARCB1 c.140A>C p.Y47S Missense 2/9 -
9-139391992-G-T NOTCH1 c.6199C>A p.L2067M Missense 34/34 -
9-21974744-A-C CDKN2A c.83T>G p.V28G Missense 1/3 -
20-31023144-G-T ASXL1 c.2629G>T p.E877* Nonsense 13/13 -
2-25459806-T-C DNMT3A c.2477A>G p.K826R Missense 21/23 -
20-31022395-C-T ASXL1 c.1880C>T p.A627V Missense 13/13 -
4-106157031-A-AG TET2 c.1934_1934dupG p.T646Yfs*35 Frameshift 3/11 -
21-36206776-TG-T RUNX1 c.735delC p.T246Rfs*8 Frameshift 7/9 -
4-106193822-G-GT TET2 c.4285_4285dupT p.G1430Wfs*48 Frameshift 10/11 -
4-106196907-C-A TET2 c.5240C>A p.P1747Q Missense 11/11 -
2-25457261-C-T DNMT3A c.2626G>A p.D876N Missense 23/23 -
2-25464556-A-T DNMT3A c.1957T>A p.L653M Missense 17/23 -
17-7579460-G-T TP53 c.227C>A p.A76E Missense 4/11 -
9-139390585-C-G NOTCH1 c.7606G>C p.V2536L Missense 34/34 -
2-25467191-A-C DNMT3A c.1684T>G p.C562G Missense 15/23 -
20-31024305-G-T ASXL1 c.3790G>T p.G1264* Nonsense 13/13 -
17-7572980-T-A TP53 c.1129A>T p.T377S Missense 11/11 -
X-123205060-G-T STAG2 c.2420G>T p.R807L Missense 25/35 -
20-31023282-G-T ASXL1 c.2767G>T p.E923* Nonsense 13/13 -
2-25470551-C-T DNMT3A c.923G>A p.G308D Missense 8/23 -
14-75513148-T-C MLH3 c.3211A>G p.T1071A Missense 2/13 -
2-25463235-C-T DNMT3A c.2258G>A p.W753* Nonsense 19/23 -
2-25467502-G-C DNMT3A c.1574C>G p.A525G Missense 14/23 -
7-151970928-C-A KMT2C c.874G>T p.G292* Nonsense 7/59 -
2-209113293-T-G IDH1 c.214A>C p.K72Q Missense 4/10 -
15-90631833-C-T IDH2 c.520G>A p.A174T Missense 4/11 -
1-115256541-T-A NRAS c.170A>T p.D57V Missense 3/7 -
2-25470583-C-T DNMT3A c.891G>A p.W297* Nonsense 8/23 -
17-7576908-C-G TP53 c.938G>C p.S313T Missense 9/11 -
20-31022478-A-G ASXL1 c.1963A>G p.T655A Missense 13/13 -
2-25463598-A-T DNMT3A c.2084T>A p.I695N Missense 18/23 -
17-7572934-G-T TP53 c.1175C>A p.S392* Nonsense 11/11 -
13-28611336-G-A FLT3 c.1295C>T p.T432M Missense 10/24 -
2-25469990-C-T DNMT3A c.1052G>A p.C351Y Missense 9/23 -
21-44524474-C-T U2AF1 c.83G>A p.R28H Missense 2/8 -
5-176638435-G-A NSD1 c.3035G>A p.R1012H Missense 5/23 -
4-106197291-G-A TET2 c.5624G>A p.C1875Y Missense 11/11 -
X-15833983-C-G ZRSR2 c.741C>G p.F247L Missense 8/11 -
2-25467500-A-C DNMT3A c.1576T>G p.Y526D Missense 14/23 -
7-148544344-C-A EZH2 c.47G>T p.R16L Missense 2/20 -
10-27350084-A-G ANKRD26 c.1451T>C p.V484A Missense 13/34 -
20-31022761-T-C ASXL1 c.2246T>C p.L749P Missense 13/13 -
2-25462060-T-C DNMT3A c.2347A>G p.K783E Missense 20/23 -
2-25470593-T-C DNMT3A c.881A>G p.E294G Missense 8/23 -
9-21971125-A-G CDKN2A c.233T>C p.L78P Missense 2/3 -
4-106197200-G-T TET2 c.5533G>T p.E1845* Nonsense 11/11 -
4-106197324-T-G TET2 c.5657T>G p.L1886* Nonsense 11/11 -
9-139396835-C-T NOTCH1 c.5273G>A p.R1758H Missense 28/34 -
9-139390591-C-T NOTCH1 c.7600G>A p.E2534K Missense 34/34 -
2-25466793-A-T DNMT3A c.1910T>A p.L637Q Missense 16/23 -
2-25467436-A-T DNMT3A c.1640T>A p.L547H Missense 14/23 -
2-25463299-A-G DNMT3A c.2194T>C p.F732L Missense 19/23 -
2-25463297-A-T DNMT3A c.2196T>A p.F732L Missense 19/23 -
2-209113375-T-A IDH1 c.132A>T p.L44F Missense 4/10 -
2-25466796-A-C DNMT3A c.1907T>G p.V636G Missense 16/23 -
2-25466790-G-A DNMT3A c.1913C>T p.S638F Missense 16/23 -
2-25469528-A-C DNMT3A c.1240T>G p.F414V Missense 10/23 -
2-25467086-G-A DNMT3A c.1789C>T p.R597W Missense 15/23 -
2-25464565-G-C DNMT3A c.1948C>G p.L650V Missense 17/23 -
2-25467449-C-T DNMT3A c.1627G>A p.G543S Missense 14/23 -
2-25464519-A-G DNMT3A c.1994T>C p.V665A Missense 17/23 -
2-25470491-A-C DNMT3A c.983T>G p.V328G Missense 8/23 -
X-76931761-T-A ATRX c.3769A>T p.T1257S Missense 10/35 -
4-106156509-C-A TET2 c.1410C>A p.C470* Nonsense 3/11 -
4-106197071-C-T TET2 c.5404C>T p.P1802S Missense 11/11 -
2-25505480-A-C DNMT3A c.278T>G p.L93W Missense 4/23 -
4-106162507-G-T TET2 c.3421G>T p.E1141* Nonsense 4/11 -
11-118373179-G-A KMT2A c.6572G>A p.R2191Q Missense 27/36 -
11-108141998-G-A ATM c.2942G>A p.R981H Missense 20/63 -
X-123217389-A-T STAG2 c.3043A>T p.K1015* Nonsense 29/35 -
2-25469542-C-T DNMT3A c.1226G>A p.W409* Nonsense 10/23 -
2-25498378-C-T DNMT3A c.483G>A p.M161I Missense 5/23 -
2-25468892-C-A DNMT3A c.1471G>T p.E491* Nonsense 12/23 -
2-25458603-T-C DNMT3A c.2570A>G p.D857G Missense 22/23 -
8-133883597-G-T TG c.279G>T p.L93= Synonymous 4/48 -
20-31022446-G-T ASXL1 c.1931G>T p.G644V Missense 13/13 -
X-39937121-C-T BCOR c.62G>A p.R21H Missense 2/15 -
4-106157450-G-A TET2 c.2351G>A p.C784Y Missense 3/11 -
2-198267501-T-A SF3B1 c.1856A>T p.N619I Missense 14/25 -
11-118307432-A-G KMT2A c.205A>G p.S69G Missense 1/36 -
2-25469176-C-T DNMT3A c.1282G>A p.E428K Missense 11/23 -
2-25464444-A-C DNMT3A c.2069T>G p.V690G Missense 17/23 -
4-72635093-A-T GC c.83T>A p.V28D Missense 2/13 -
X-39922996-T-C BCOR c.3712A>G p.T1238A Missense 8/15 -
2-25470590-A-G DNMT3A c.884T>C p.L295P Missense 8/23 -
4-106193823-T-C TET2 c.4285T>C p.F1429L Missense 10/11 -
19-33793050-C-T CEBPA c.271G>A p.A91T Missense 1/1 -
9-5090560-A-G JAK2 c.2876A>G p.Q959R Missense 21/25 -
2-25459869-A-T DNMT3A c.2414T>A p.L805* Nonsense 21/23 -
20-31023444-C-T ASXL1 c.2929C>T p.Q977* Nonsense 13/13 -
8-117864932-G-C RAD21 c.1177C>G p.L393V Missense 10/14 -
2-25467117-G-C DNMT3A c.1758C>G p.C586W Missense 15/23 -
2-25470557-C-T DNMT3A c.917G>A p.W306* Nonsense 8/23 -
2-25497892-G-A DNMT3A c.557C>T p.P186L Missense 6/23 -
4-106158478-C-T TET2 c.3379C>T p.Q1127* Nonsense 3/11 -
8-117878959-C-T RAD21 c.10G>A p.A4T Missense 2/14 -
21-36231785-G-A RUNX1 c.599C>T p.P200L Missense 6/9 -
11-108098567-A-C ATM c.137A>C p.H46P Missense 3/63 -
17-41246622-T-C BRCA1 c.926A>G p.K309R Missense 10/23 -
19-33792961-C-T CEBPA c.360G>A p.M120I Missense 1/1 -
19-33792736-G-C CEBPA c.585C>G p.H195Q Missense 1/1 -
20-31022784-C-T ASXL1 c.2269C>T p.Q757* Nonsense 13/13 -
9-139390600-C-G NOTCH1 c.7591G>C p.D2531H Missense 34/34 -
7-2984039-T-G CARD11 c.491A>C p.K164T Missense 5/25 -
X-76875907-C-A ATRX c.5228G>T p.R1743M Missense 20/35 -
21-36164744-G-C RUNX1 c.1131C>G p.Y377* Nonsense 9/9 -
2-25497905-G-A DNMT3A c.544C>T p.Q182* Nonsense 6/23 -
8-117864926-G-T RAD21 c.1183C>A p.P395T Missense 10/14 -
16-3900743-A-G CREBBP c.353T>C p.M118T Missense 2/31 -
X-123179156-C-G STAG2 c.605C>G p.S202* Nonsense 8/35 -
17-7579409-A-T TP53 c.278T>A p.L93Q Missense 4/11 -
17-29490210-A-C NF1 c.295A>C p.K99Q Missense 4/58 -
X-123195701-G-T STAG2 c.1615G>T p.V539L Missense 17/35 -
9-5055727-A-G JAK2 c.995A>G p.N332S Missense 8/25 -
17-40858194-C-T EZH1 c.1670G>A p.R557H Missense 16/21 -
2-25471042-T-G DNMT3A c.719A>C p.E240A Missense 7/23 -
10-70404588-G-A TET1 c.2102G>A p.S701N Missense 4/12 -
4-106196290-G-C TET2 c.4623G>C p.Q1541H Missense 11/11 -
4-106158244-A-T TET2 c.3145A>T p.K1049* Nonsense 3/11 -
4-106155776-T-C TET2 c.677T>C p.L226P Missense 3/11 -
2-25470464-G-T DNMT3A c.1010C>A p.S337* Nonsense 8/23 -
13-28592684-G-T FLT3 c.2461C>A p.H821N Missense 20/24 -
20-31024948-C-T ASXL1 c.4433C>T p.A1478V Missense 13/13 -
21-36206776-T-G RUNX1 c.736A>C p.T246P Missense 7/9 -
2-25470594-C-A DNMT3A c.880G>T p.E294* Nonsense 8/23 -
20-31023776-C-A ASXL1 c.3261C>A p.Y1087* Nonsense 13/13 -
2-198266725-C-T SF3B1 c.2207G>A p.R736H Missense 15/25 -
17-74732999-C-T SRSF2 c.244G>A p.G82S Missense 1/3 -
2-25467437-G-A DNMT3A c.1639C>T p.L547F Missense 14/23 -
2-25464453-A-C DNMT3A c.2060T>G p.V687G Missense 17/23 -
17-7579851-T-C TP53 c.62A>G p.D21G Missense 2/11 -
2-25467175-A-C DNMT3A c.1700T>G p.V567G Missense 15/23 -
20-31022589-C-G ASXL1 c.2074C>G p.Q692E Missense 13/13 -
4-106196839-T-A TET2 c.5172T>A p.Y1724* Nonsense 11/11 -
7-140500187-A-G BRAF c.955T>C p.S319P Missense 7/18 -
2-25536798-C-T DNMT3A c.56G>A p.R19Q Missense 2/23 -
X-76812962-G-T ATRX c.6659C>A p.S2220* Nonsense 30/35 -
20-31022386-T-C ASXL1 c.1871T>C p.V624A Missense 13/13 -
12-11905507-C-A ETV6 c.157C>A p.H53N Missense 2/8 -
2-25505450-T-C DNMT3A c.308A>G p.E103G Missense 4/23 -
20-31022587-T-C ASXL1 c.2072T>C p.L691P Missense 13/13 -
2-25467134-A-AG DNMT3A c.1740_1740dupC p.W581Lfs*31 Frameshift 15/23 -
2-25470523-G-GC DNMT3A c.950dupG p.R318Pfs*6 Frameshift 8/23 -
17-7578235-T-TA TP53 c.613_613dupT p.Y205Lfs*4 Frameshift 6/11 -
4-72631294-TC-T GC c.328delG p.E110Sfs*17 Frameshift 4/13 -
8-133881979-T-TC TG c.184dupC p.Q62Pfs*18 Frameshift 3/48 -
8-133885448-TG-T TG c.622delG p.V208Sfs*12 Frameshift 5/48 -
4-106155362-GT-G TET2 c.266delT p.L89Cfs*6 Frameshift 3/11 -
4-72635075-T-TG GC c.99_99dupC p.H34Pfs*17 Frameshift 2/13 -
2-25505417-GC-G DNMT3A c.340delG p.A114Pfs*48 Frameshift 4/23 -
13-28602368-TG-T FLT3 c.1999delC p.Q667Sfs*9 Frameshift 16/24 -
19-33793213-GC-G CEBPA c.107delG p.G36Afs*124 Frameshift 1/1 -
4-106155380-T-TA TET2 c.282_282dupA p.R96Tfs*4 Frameshift 3/11 -
9-139396886-GC-G NOTCH1 c.5221delG p.A1741Rfs*57 Frameshift 28/34 -
2-25497863-AG-A DNMT3A c.585delC p.Y196Tfs*29 Frameshift 6/23 -
19-33792952-TC-T CEBPA c.368delG p.G123Efs*37 Frameshift 1/1 -
3-128205009-A-AC GATA2 c.431_432insG p.G145Wfs*40 Frameshift 3/6 -
20-31022349-AG-A ASXL1 c.1836delG p.T613Pfs*90 Frameshift 13/13 -
4-106155962-C-G TET2 c.863C>G p.P288R Missense 3/11 -
4-106158215-C-A TET2 c.3116C>A p.S1039* Nonsense 3/11 -
7-148515098-T-G EZH2 c.1111A>C p.S371R Missense 10/20 -
17-7579469-A-C TP53 c.218T>G p.V73G Missense 4/11 -
7-148543622-C-A EZH2 c.186G>T p.Q62H Missense 3/20 -
2-25463585-GC-G DNMT3A c.2096delG p.G699Afs*6 Frameshift 18/23 -
2-25505400-C-G DNMT3A c.358G>C p.G120R Missense 4/23 -
17-7577126-T-G TP53 c.812A>C p.E271A Missense 8/11 -
7-55241622-G-C EGFR c.2070G>C p.E690D Missense 18/28 -
7-55241622-G-T EGFR c.2070G>T p.E690D Missense 18/28 -
4-72631207-G-C GC c.415C>G p.P139A Missense 4/13 -
X-123205096-C-G STAG2 c.2456C>G p.S819C Missense 25/35 -
17-7579409-A-C TP53 c.278T>G p.L93R Missense 4/11 -
11-118343203-A-T KMT2A c.1329A>T p.L443F Missense 3/36 -
20-31025059-T-C ASXL1 c.4544T>C p.M1515T Missense 13/13 -
10-70333197-G-A TET1 c.1102G>A p.A368T Missense 2/12 -
11-118307364-T-G KMT2A c.137T>G p.V46G Missense 1/36 -
2-25463203-T-G DNMT3A c.2290A>C p.S764R Missense 19/23 -
21-36206875-G-A RUNX1 c.637C>T p.Q213* Nonsense 7/9 -
20-31023687-G-T ASXL1 c.3172G>T p.G1058W Missense 13/13 -
21-44524471-T-C U2AF1 c.86A>G p.H29R Missense 2/8 -
11-64534393-T-G SF1 c.1561A>C p.T521P Missense 12/13 -
17-7578546-A-AG TP53 c.383_383dupC p.A129Cfs*20 Frameshift 5/11 -
18-46476680-C-G SMAD7 c.115G>C p.G39R Missense 1/4 -
12-25398270-T-C KRAS c.49A>G p.S17G Missense 2/5 -
19-17945783-G-A JAK3 c.2077C>T p.P693S Missense 16/24 -
7-148512632-C-T EZH2 c.1512G>A p.W504* Nonsense 13/20 -
2-25464544-C-A DNMT3A c.1969G>T p.V657L Missense 17/23 -
12-12037507-T-G ETV6 c.1138T>G p.W380G Missense 6/8 -
2-209113223-G-T IDH1 c.284C>A p.P95Q Missense 4/10 -
2-25470558-A-C DNMT3A c.916T>G p.W306G Missense 8/23 -
2-25470583-C-A DNMT3A c.891G>T p.W297C Missense 8/23 -
2-25470583-C-G DNMT3A c.891G>C p.W297C Missense 8/23 -
2-25470587-A-C DNMT3A c.887T>G p.V296G Missense 8/23 -
2-25463586-C-A DNMT3A c.2096G>T p.G699V Missense 18/23 -
2-25467191-A-T DNMT3A c.1684T>A p.C562S Missense 15/23 -
2-25467134-A-T DNMT3A c.1741T>A p.W581R Missense 15/23 -
2-25471016-G-A DNMT3A c.745C>T p.Q249* Nonsense 7/23 -
4-106190898-C-A TET2 c.4176C>A p.S1392R Missense 9/11 -
2-25458592-A-G DNMT3A c.2581T>C p.C861R Missense 22/23 -
2-25464535-A-C DNMT3A c.1978T>G p.Y660D Missense 17/23 -
2-25462074-A-C DNMT3A c.2333T>G p.V778G Missense 20/23 -
2-25463510-G-T DNMT3A c.2172C>A p.Y724* Nonsense 18/23 -
2-25462000-T-C DNMT3A c.2407A>G p.R803G Missense 20/23 -
4-106180891-A-G TET2 c.3919A>G p.R1307G Missense 7/11 -
2-25457283-A-T DNMT3A c.2604T>A p.F868L Missense 23/23 -
2-25457283-A-C DNMT3A c.2604T>G p.F868L Missense 23/23 -
2-25462023-C-A DNMT3A c.2384G>T p.W795L Missense 20/23 -
2-25470483-A-C DNMT3A c.991T>G p.F331V Missense 8/23 -
2-25463248-G-C DNMT3A c.2245C>G p.R749G Missense 19/23 -
2-25462040-G-T DNMT3A c.2367C>A p.H789Q Missense 20/23 -
2-25464507-G-A DNMT3A c.2006C>T p.S669F Missense 17/23 -
4-106156776-T-A TET2 c.1677T>A p.Y559* Nonsense 3/11 -
2-25462068-A-C DNMT3A c.2339T>G p.I780S Missense 20/23 -
2-25469939-G-T DNMT3A c.1103C>A p.A368D Missense 9/23 -
2-25464534-T-G DNMT3A c.1979A>C p.Y660S Missense 17/23 -
2-25466785-A-G DNMT3A c.1918T>C p.F640L Missense 16/23 -
2-25470588-C-A DNMT3A c.886G>T p.V296L Missense 8/23 -
12-11905465-C-T ETV6 c.115C>T p.R39* Nonsense 2/8 -
2-25457165-A-C DNMT3A c.2722T>G p.Y908D Missense 23/23 -
2-25466805-G-T DNMT3A c.1898C>A p.P633H Missense 16/23 -
2-25467029-C-A DNMT3A c.1846G>T p.E616* Nonsense 15/23 -
X-15841175-C-A ZRSR2 c.1259C>A p.S420* Nonsense 11/11 -
X-15841175-C-G ZRSR2 c.1259C>G p.S420* Nonsense 11/11 -
21-36231798-T-G RUNX1 c.586A>C p.T196P Missense 6/9 -
21-36252862-C-A RUNX1 c.500G>T p.S167I Missense 5/9 -
17-7573943-T-C TP53 c.1084A>G p.S362G Missense 10/11 -
17-7578457-C-CG TP53 c.472_472dupC p.R158Pfs*23 Frameshift 5/11 -
4-106156935-TG-T TET2 c.1842delG p.L615Sfs*24 Frameshift 3/11 -
4-106197206-T-TG TET2 c.5541dupG p.S1848Vfs*11 Frameshift 11/11 -
4-106194005-T-A TET2 c.4467T>A p.N1489K Missense 10/11 -
4-72618257-G-A GC c.1373C>T p.P458L Missense 11/13 -
4-106158104-C-A TET2 c.3005C>A p.T1002K Missense 3/11 -
8-133894154-C-T TG c.685C>T p.P229S Missense 6/48 -
15-90631917-TC-T IDH2 c.435delG p.T146Lfs*15 Frameshift 4/11 -
4-72629186-T-TG GC c.639dupC p.T214Hfs*5 Frameshift 6/13 -
21-36164610-T-C RUNX1 c.1265A>G p.E422G Missense 9/9 -
21-36164845-C-T RUNX1 c.1030G>A p.D344N Missense 9/9 -
7-140500193-A-G BRAF c.949T>C p.S317P Missense 7/18 -
2-25469630-C-T DNMT3A c.1138G>A p.A380T Missense 10/23 -
X-123195684-C-A STAG2 c.1598C>A p.A533D Missense 17/35 -
7-148514997-CTCT-C EZH2 c.1209_1211delAGA p.E404del InFrameDeletion 10/20 -
9-139397768-A-T NOTCH1 c.5033T>A p.L1678Q Missense 27/34 -
4-106155430-A-G TET2 c.331A>G p.K111E Missense 3/11 -
21-36259241-C-A RUNX1 c.250G>T p.D84Y Missense 4/9 -
21-36259234-G-A RUNX1 c.257C>T p.P86L Missense 4/9 -
21-36253003-G-T RUNX1 c.359C>A p.A120D Missense 5/9 -
11-119149241-C-G CBL c.1249C>G p.P417A Missense 9/16 -
19-33793258-G-C CEBPA c.63C>G p.S21R Missense 1/1 -
19-33793260-T-G CEBPA c.61A>C p.S21R Missense 1/1 -
4-55592160-A-T KIT c.1484A>T p.N495I Missense 9/21 -
11-534282-A-C HRAS c.41T>G p.V14G Missense 2/6 -
7-148508773-T-A EZH2 c.1891A>T p.I631F Missense 16/20 -
17-7577045-T-G TP53 c.893A>C p.E298A Missense 8/11 -
17-7579490-A-C TP53 c.197T>G p.M66R Missense 4/11 -
17-7578218-T-A TP53 c.631A>T p.T211S Missense 6/11 -
17-7577037-G-T TP53 c.901C>A p.P301T Missense 8/11 -
17-7578278-G-T TP53 c.571C>A p.P191T Missense 6/11 -
17-7578250-T-G TP53 c.599A>C p.N200T Missense 6/11 -
17-7577048-T-G TP53 c.890A>C p.H297P Missense 8/11 -
17-7578238-T-A TP53 c.611A>T p.E204V Missense 6/11 -
17-7578422-T-A TP53 c.508A>T p.T170S Missense 5/11 -
17-7578372-A-C TP53 c.558T>G p.D186E Missense 5/11 -
17-7578397-T-A TP53 c.533A>T p.H178L Missense 5/11 -
17-7578500-G-T TP53 c.430C>A p.Q144K Missense 5/11 -
17-7578373-T-A TP53 c.557A>T p.D186V Missense 5/11 -
17-7578428-G-C TP53 c.502C>G p.H168D Missense 5/11 -
17-7579469-A-T TP53 c.218T>A p.V73E Missense 4/11 -
20-31393148-G-A DNMT3B c.2236G>A p.V746M Missense 21/23 -
20-31390221-GTT-ATG DNMT3B c.2176_2178delGTTinsATG p.V726M Missense 20/23 -
9-21971098-CG-C CDKN2A c.259delC p.R87Gfs*59 Frameshift 2/3 -
7-148514471-C-T EZH2 c.1253G>A p.R418Q Missense 11/20 -
2-25467037-T-A DNMT3A c.1838A>T p.H613L Missense 15/23 -
2-25470612-G-A DNMT3A c.862C>T p.R288W Missense 8/23 -
2-25469526-G-C DNMT3A c.1242C>G p.F414L Missense 10/23 -
2-25469588-C-T DNMT3A c.1180G>A p.D394N Missense 10/23 -
2-25470922-T-C DNMT3A c.839A>G p.D280G Missense 7/23 -
2-25469982-A-C DNMT3A c.1060T>G p.F354V Missense 9/23 -
2-25470491-A-T DNMT3A c.983T>A p.V328D Missense 8/23 -
2-25470534-A-C DNMT3A c.940T>G p.W314G Missense 8/23 -
2-25470916-G-T DNMT3A c.845C>A p.P282Q Missense 7/23 -
2-25497898-G-A DNMT3A c.551C>T p.P184L Missense 6/23 -
2-25464519-A-C DNMT3A c.1994T>G p.V665G Missense 17/23 -
2-25505567-T-G DNMT3A c.191A>C p.D64A Missense 4/23 -
2-25461999-C-A DNMT3A c.2408G>T p.R803M Missense 20/23 -
12-12043895-A-C ETV6 c.1274A>C p.E425A Missense 8/8 -
2-25467487-T-G DNMT3A c.1589A>C p.D530A Missense 14/23 -
2-25467484-T-G DNMT3A c.1592A>C p.D531A Missense 14/23 -
17-7579842-T-G TP53 c.71A>C p.K24T Missense 2/11 -
4-106156804-GC-G TET2 c.1709delC p.P570Lfs*10 Frameshift 3/11 -
7-148511170-A-G EZH2 c.1732T>C p.C578R Missense 15/20 -
9-139390866-T-G NOTCH1 c.7325A>C p.D2442A Missense 34/34 -
X-39933622-G-A BCOR c.977C>T p.P326L Missense 4/15 -
16-11348716-A-G SOCS1 c.620T>C p.F207S Missense 2/2 -
21-36164608-G-A RUNX1 c.1267C>T p.R423C Missense 9/9 -
X-39923191-T-A BCOR c.3517A>T p.R1173W Missense 8/15 -
21-36206763-C-T RUNX1 c.749G>A p.R250H Missense 7/9 -
17-7579449-G-T TP53 c.238C>A p.P80T Missense 4/11 -
16-3900713-G-C CREBBP c.383C>G p.S128C Missense 2/31 -
17-7577607-A-C TP53 c.674T>G p.V225G Missense 7/11 -
X-15808608-G-C ZRSR2 c.1-11G>C - 5-UTRSNV 1/11 -
1-24972370-A-G SRRM1 c.22-105A>G - IntronicSNV - 1/16
1-22405202-T-A CDC42 c.105+126T>A - IntronicSNV - 2/5
8-93074911-C-T RUNX1T1 c.-24+32345G>A - intron_variant - 1/10
21-36206897-TC-T RUNX1 c.614delG - Frameshift - 6/8
21-36260622-C-T RUNX1 c.98-1229G>A - IntronicSNV - 3/8
1-65310525-G-GAGGAGGTTTTTAGTACACACATTTCCATGGACCAGGTCTTTATCCTCCTGCAGAAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCGTGAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAA JAK1 c.2162_2163insTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCACGGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTTCTGCAGGAGGATAAAGACCTGGTCCATGGAAATGTGTGTACTAAAAACCTCCT - InFrameInsertion - 15/24
2-198262783-C-CTCTAAAAGCTCAAAGCAAATCCTCATCCACTCTCTTGCAGATACATATTCAGCTCCCCTAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCGTGGGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAA SF3B1 c.3191_3192insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCCCACGGGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAGGGGAGCTGAATATGTATCTGCAAGAGAGTGGATGAGGATTTGCTTTGAGCTTTTAGA - Frameshift - 21/24
2-198262827-C-CATATTCAGCTCCCCTAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACACAGAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAA SF3B1 c.3147_3148insTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTTCTGTGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAGGGGAGCTGAATAT - Frameshift - 21/24
7-151836868-G-GCCCAGCCCCTAAAAAAAAGTGTGTACATACTTCCAATTTATGTGACAACAATTTTTTCAAGCAGAAGACGGCATACGAGATAGGTTGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT KMT2C c.14351_14352insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACAACAACCTATCTCGTATGCCGTCTTCTGCTTGAAAAAATTGTTGTCACATAAATTGGAAGTATGTACACACTTTTTTTTAGGGGCTGGG - Frameshift - 55/58
19-10283830-G-GCAGGAAGCGGTCTAGCAACTCTGTCAAGCAAAATATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTTGGAGGTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT DNMT1 c.703_704insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCTCCAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAATATTTTGCTTGACAGAGTTGCTAGACCGCTTCCTG - Frameshift - 8/40
2-25497884-T-G DNMT3A c.565A>C p.T189P Missense 6/23 -
2-25497886-A-C DNMT3A c.563T>G p.L188R Missense 6/23 -
2-25497886-A-G DNMT3A c.563T>C p.L188P Missense 6/23 -
2-25497893-G-T DNMT3A c.556C>A p.P186T Missense 6/23 -
2-25497895-A-C DNMT3A c.554T>G p.M185R Missense 6/23 -
2-25497896-T-G DNMT3A c.553A>C p.M185L Missense 6/23 -
2-25497896-T-A DNMT3A c.553A>T p.M185L Missense 6/23 -
2-25497899-G-T DNMT3A c.550C>A p.P184T Missense 6/23 -
2-25497904-T-C DNMT3A c.545A>G p.Q182R Missense 6/23 -
2-25497904-T-G DNMT3A c.545A>C p.Q182P Missense 6/23 -
4-106164811-G-T TET2 c.3679G>T p.V1227L Missense 6/11 -
4-106164812-T-G TET2 c.3680T>G p.V1227G Missense 6/11 -
4-106164820-A-C TET2 c.3688A>C p.I1230L Missense 6/11 -
4-106164827-T-G TET2 c.3695T>G p.V1232G Missense 6/11 -
1-115258772-A-C NRAS c.10T>G p.Y4D Missense 2/7 -
1-115258774-T-C NRAS c.8A>G p.E3G Missense 2/7 -
1-115258777-G-T NRAS c.5C>A p.T2N Missense 2/7 -
1-115258778-T-C NRAS c.4A>G p.T2A Missense 2/7 -
1-115258780-A-T NRAS c.2T>A p.M1? Missense 2/7 -
2-25497947-C-T DNMT3A c.502G>A p.G168S Missense 6/23 -
2-25497905-G-T DNMT3A c.544C>A p.Q182K Missense 6/23 -
2-25497908-G-C DNMT3A c.541C>G p.R181G Missense 6/23 -
2-25497917-A-C DNMT3A c.532T>G p.S178A Missense 6/23 -
2-25497919-T-C DNMT3A c.530A>G p.E177G Missense 6/23 -
2-25497925-C-T DNMT3A c.524G>A p.G175D Missense 6/23 -
2-25497943-C-G DNMT3A c.506G>C p.R169P Missense 6/23 -
2-25497946-C-G DNMT3A c.503G>C p.G168A Missense 6/23 -
4-106164834-A-C TET2 c.3702A>C p.E1234D Missense 6/11 -
4-106164842-C-A TET2 c.3710C>A p.P1237Q Missense 6/11 -
4-106164844-C-A TET2 c.3712C>A p.L1238M Missense 6/11 -
4-106164847-T-G TET2 c.3715T>G p.S1239A Missense 6/11 -
4-106164861-A-C TET2 c.3729A>C p.K1243N Missense 6/11 -
4-106164861-A-T TET2 c.3729A>T p.K1243N Missense 6/11 -
4-106164872-A-G TET2 c.3740A>G p.E1247G Missense 6/11 -
4-106164902-C-G TET2 c.3770C>G p.T1257R Missense 6/11 -
2-25457156-A-C DNMT3A c.2731T>G p.C911G Missense 23/23 -
4-106180779-A-C TET2 c.3807A>C p.R1269S Missense 7/11 -
4-106180901-A-G TET2 c.3929A>G p.K1310R Missense 7/11 -
4-106180906-C-A TET2 c.3934C>A p.L1312I Missense 7/11 -
4-106180915-G-T TET2 c.3943G>T p.D1315Y Missense 7/11 -
4-106180923-A-C TET2 c.3951A>C p.K1317N Missense 7/11 -
4-106182953-C-A TET2 c.3992C>A p.T1331N Missense 8/11 -
4-106182955-C-A TET2 c.3994C>A p.L1332I Missense 8/11 -
2-25457150-A-C DNMT3A c.2737T>G p.*913Eext*13 Missense 23/23 -
2-25457154-A-C DNMT3A c.2733T>G p.C911W Missense 23/23 -
2-25457186-G-T DNMT3A c.2701C>A p.L901I Missense 23/23 -
2-25457188-T-G DNMT3A c.2699A>C p.H900P Missense 23/23 -
2-25457195-T-G DNMT3A c.2692A>C p.I898L Missense 23/23 -
2-25457197-A-C DNMT3A c.2690T>G p.V897G Missense 23/23 -
2-25457203-A-C DNMT3A c.2684T>G p.V895G Missense 23/23 -
2-25457210-A-C DNMT3A c.2677T>G p.W893G Missense 23/23 -
2-25457213-A-C DNMT3A c.2674T>G p.S892A Missense 23/23 -
2-25505312-G-T DNMT3A c.446C>A p.A149E Missense 4/23 -
2-25505390-T-G DNMT3A c.368A>C p.E123A Missense 4/23 -
2-25505391-C-T DNMT3A c.367G>A p.E123K Missense 4/23 -
4-106182955-C-G TET2 c.3994C>G p.L1332V Missense 8/11 -
4-106190814-A-C TET2 c.4092A>C p.E1364D Missense 9/11 -
2-25457219-C-T DNMT3A c.2668G>A p.G890S Missense 23/23 -
2-25457228-T-C DNMT3A c.2659A>G p.R887G Missense 23/23 -
2-25457229-C-G DNMT3A c.2658G>C p.Q886H Missense 23/23 -
2-25457236-G-T DNMT3A c.2651C>A p.A884E Missense 23/23 -
2-25457287-A-C DNMT3A c.2600T>G p.V867G Missense 23/23 -
2-25505396-G-T DNMT3A c.362C>A p.A121E Missense 4/23 -
2-25505402-T-C DNMT3A c.356A>G p.E119G Missense 4/23 -
4-106190887-C-A TET2 c.4165C>A p.Q1389K Missense 9/11 -
4-106190863-G-T TET2 c.4141G>T p.A1381S Missense 9/11 -
4-106190864-C-A TET2 c.4142C>A p.A1381D Missense 9/11 -
4-106190870-G-T TET2 c.4148G>T p.R1383I Missense 9/11 -
4-106190874-C-A TET2 c.4152C>A p.D1384E Missense 9/11 -
4-106190876-T-G TET2 c.4154T>G p.L1385W Missense 9/11 -
4-106190878-C-A TET2 c.4156C>A p.H1386N Missense 9/11 -
4-106190879-A-C TET2 c.4157A>C p.H1386P Missense 9/11 -
4-106190880-C-A TET2 c.4158C>A p.H1386Q Missense 9/11 -
4-106193722-T-G TET2 c.4184T>G p.V1395G Missense 10/11 -
4-106193727-A-C TET2 c.4189A>C p.T1397P Missense 10/11 -
4-106193742-G-A TET2 c.4204G>A p.D1402N Missense 10/11 -
4-106193754-T-A TET2 c.4216T>A p.F1406I Missense 10/11 -
4-106193769-G-A TET2 c.4231G>A p.E1411K Missense 10/11 -
21-44514772-C-CATATTG U2AF1 c.474_475insCAATAT p.Q157_Y158dup InFrameInsertion 6/8 -
2-25457287-A-G DNMT3A c.2600T>C p.V867A Missense 23/23 -
2-25457287-A-T DNMT3A c.2600T>A p.V867E Missense 23/23 -
2-25458583-T-G DNMT3A c.2590A>C p.M864L Missense 22/23 -
2-25458592-A-C DNMT3A c.2581T>G p.C861G Missense 22/23 -
2-25458592-A-T DNMT3A c.2581T>A p.C861S Missense 22/23 -
2-25458594-C-A DNMT3A c.2579G>T p.W860L Missense 22/23 -
2-25458600-A-C DNMT3A c.2573T>G p.I858S Missense 22/23 -
2-25458607-C-A DNMT3A c.2566G>T p.E856* Nonsense 22/23 -
2-25458608-T-G DNMT3A c.2565A>C p.K855N Missense 22/23 -
2-25458609-T-G DNMT3A c.2564A>C p.K855T Missense 22/23 -
4-106193823-T-G TET2 c.4285T>G p.F1429V Missense 10/11 -
2-25458611-C-A DNMT3A c.2562G>T p.E854D Missense 22/23 -
4-106193770-A-C TET2 c.4232A>C p.E1411A Missense 10/11 -
4-106193770-A-G TET2 c.4232A>G p.E1411G Missense 10/11 -
4-106193779-A-C TET2 c.4241A>C p.Q1414P Missense 10/11 -
4-106193787-G-A TET2 c.4249G>A p.V1417I Missense 10/11 -
4-106193806-T-G TET2 c.4268T>G p.V1423G Missense 10/11 -
4-106193815-T-G TET2 c.4277T>G p.V1426G Missense 10/11 -
4-106193818-A-G TET2 c.4280A>G p.D1427G Missense 10/11 -
4-106193819-T-G TET2 c.4281T>G p.D1427E Missense 10/11 -
2-25458628-G-C DNMT3A c.2545C>G p.P849A Missense 22/23 -
2-25459812-A-C DNMT3A c.2471T>G p.I824R Missense 21/23 -
2-25459812-A-T DNMT3A c.2471T>A p.I824K Missense 21/23 -
2-25459813-T-G DNMT3A c.2470A>C p.I824L Missense 21/23 -
2-25459829-A-C DNMT3A c.2454T>G p.C818W Missense 21/23 -
2-25459831-A-C DNMT3A c.2452T>G p.C818G Missense 21/23 -
4-106193829-A-G TET2 c.4291A>G p.S1431G Missense 10/11 -
4-106193831-T-A TET2 c.4293T>A p.S1431R Missense 10/11 -
4-106193831-T-G TET2 c.4293T>G p.S1431R Missense 10/11 -
4-106193833-T-G TET2 c.4295T>G p.V1432G Missense 10/11 -
2-25459831-A-G DNMT3A c.2452T>C p.C818R Missense 21/23 -
2-25459831-A-T DNMT3A c.2452T>A p.C818S Missense 21/23 -
2-25459841-C-A DNMT3A c.2442G>T p.E814D Missense 21/23 -
2-25505467-A-C DNMT3A c.291T>G p.S97R Missense 4/23 -
2-25459842-T-G DNMT3A c.2441A>C p.E814A Missense 21/23 -
2-25505467-A-T DNMT3A c.291T>A p.S97R Missense 4/23 -
2-25505418-C-G DNMT3A c.340G>C p.A114P Missense 4/23 -
2-25505438-G-C DNMT3A c.320C>G p.A107G Missense 4/23 -
2-25505442-G-T DNMT3A c.316C>A p.P106T Missense 4/23 -
2-25505443-G-C DNMT3A c.315C>G p.S105R Missense 4/23 -
2-25505445-T-G DNMT3A c.313A>C p.S105R Missense 4/23 -
2-25505445-T-C DNMT3A c.313A>G p.S105G Missense 4/23 -
2-25505453-T-C DNMT3A c.305A>G p.E102G Missense 4/23 -
2-25505465-T-G DNMT3A c.293A>C p.E98A Missense 4/23 -
4-106193842-A-C TET2 c.4304A>C p.Q1435P Missense 10/11 -
4-106193845-A-C TET2 c.4307A>C p.E1436A Missense 10/11 -
4-106193845-A-G TET2 c.4307A>G p.E1436G Missense 10/11 -
4-106193856-C-G TET2 c.4318C>G p.R1440G Missense 10/11 -
4-106193859-A-G TET2 c.4321A>G p.S1441G Missense 10/11 -
4-106193861-T-A TET2 c.4323T>A p.S1441R Missense 10/11 -
4-106193861-T-G TET2 c.4323T>G p.S1441R Missense 10/11 -
2-25459857-A-C DNMT3A c.2426T>G p.V809G Missense 21/23 -
2-25459866-G-C DNMT3A c.2417C>G p.A806G Missense 21/23 -
2-25459867-C-G DNMT3A c.2416G>C p.A806P Missense 21/23 -
2-25505469-T-C DNMT3A c.289A>G p.S97G Missense 4/23 -
2-25459867-C-T DNMT3A c.2416G>A p.A806T Missense 21/23 -
2-25459848-T-C DNMT3A c.2435A>G p.K812R Missense 21/23 -
2-25459851-T-G DNMT3A c.2432A>C p.D811A Missense 21/23 -
2-25459853-A-C DNMT3A c.2430T>G p.N810K Missense 21/23 -
2-25459854-T-C DNMT3A c.2429A>G p.N810S Missense 21/23 -
2-25459855-T-G DNMT3A c.2428A>C p.N810H Missense 21/23 -
2-25459869-A-C DNMT3A c.2414T>G p.L805W Missense 21/23 -
2-25459870-A-C DNMT3A c.2413T>G p.L805V Missense 21/23 -
2-25462001-G-T DNMT3A c.2406C>A p.N802K Missense 20/23 -
2-25462006-T-G DNMT3A c.2401A>C p.M801L Missense 20/23 -
2-25462036-C-G DNMT3A c.2371G>C p.A791P Missense 20/23 -
2-25462041-T-G DNMT3A c.2366A>C p.H789P Missense 20/23 -
2-25462044-G-T DNMT3A c.2363C>A p.A788E Missense 20/23 -
2-25462053-A-C DNMT3A c.2354T>G p.V785G Missense 20/23 -
2-25505483-T-C DNMT3A c.275A>G p.D92G Missense 4/23 -
2-25505488-A-C DNMT3A c.270T>G p.N90K Missense 4/23 -
4-106193899-T-A TET2 c.4361T>A p.V1454D Missense 10/11 -
4-106193868-A-C TET2 c.4330A>C p.I1444L Missense 10/11 -
4-106193875-T-G TET2 c.4337T>G p.V1446G Missense 10/11 -
4-106193882-T-G TET2 c.4344T>G p.S1448R Missense 10/11 -
4-106193907-T-G TET2 c.4369T>G p.L1457V Missense 10/11 -
4-106193920-T-G TET2 c.4382T>G p.V1461G Missense 10/11 -
4-106193941-A-C TET2 c.4403A>C p.K1468T Missense 10/11 -
4-106193956-A-C TET2 c.4418A>C p.K1473T Missense 10/11 -
4-106193957-A-C TET2 c.4419A>C p.K1473N Missense 10/11 -
4-106193957-A-T TET2 c.4419A>T p.K1473N Missense 10/11 -
2-25462070-C-T DNMT3A c.2337G>A p.M779I Missense 20/23 -
2-25462078-G-T DNMT3A c.2329C>A p.P777T Missense 20/23 -
2-25462079-G-T DNMT3A c.2328C>A p.N776K Missense 20/23 -
4-106193985-G-A TET2 c.4447G>A p.E1483K Missense 10/11 -
4-106193958-G-C TET2 c.4420G>C p.A1474P Missense 10/11 -
4-106193958-G-T TET2 c.4420G>T p.A1474S Missense 10/11 -
4-106193959-C-A TET2 c.4421C>A p.A1474D Missense 10/11 -
4-106193961-G-C TET2 c.4423G>C p.A1475P Missense 10/11 -
4-106193969-A-C TET2 c.4431A>C p.E1477D Missense 10/11 -
4-106193970-A-C TET2 c.4432A>C p.K1478Q Missense 10/11 -
4-106193980-C-G TET2 c.4442C>G p.S1481C Missense 10/11 -
4-106193986-A-C TET2 c.4448A>C p.E1483A Missense 10/11 -
4-106193995-C-A TET2 c.4457C>A p.S1486* Nonsense 10/11 -
2-25463172-T-G DNMT3A c.2321A>C p.E774A Missense 19/23 -
2-25463176-G-T DNMT3A c.2317C>A p.L773I Missense 19/23 -
2-25463177-A-C DNMT3A c.2316T>G p.F772L Missense 19/23 -
2-25463190-T-C DNMT3A c.2303A>G p.D768G Missense 19/23 -
2-25463201-A-T DNMT3A c.2292T>A p.S764R Missense 19/23 -
2-25463208-C-A DNMT3A c.2285G>T p.G762V Missense 19/23 -
2-25463210-C-A DNMT3A c.2283G>T p.M761I Missense 19/23 -
2-25463210-C-G DNMT3A c.2283G>C p.M761I Missense 19/23 -
2-25463211-A-T DNMT3A c.2282T>A p.M761K Missense 19/23 -
2-25463212-T-G DNMT3A c.2281A>C p.M761L Missense 19/23 -
2-25463217-A-C DNMT3A c.2276T>G p.V759G Missense 19/23 -
2-25505495-A-C DNMT3A c.263T>G p.L88* Nonsense 4/23 -
2-25505502-C-A DNMT3A c.256G>T p.E86* Nonsense 4/23 -
2-25505508-C-A DNMT3A c.250G>T p.A84S Missense 4/23 -
2-25505516-T-G DNMT3A c.242A>C p.D81A Missense 4/23 -
2-25505519-T-C DNMT3A c.239A>G p.Q80R Missense 4/23 -
2-25505525-A-T DNMT3A c.233T>A p.M78K Missense 4/23 -
2-25505528-G-C DNMT3A c.230C>G p.S77C Missense 4/23 -
2-25505555-T-G DNMT3A c.203A>C p.D68A Missense 4/23 -
2-25505579-A-C DNMT3A c.179T>G p.V60G Missense 4/23 -
2-25523014-G-C DNMT3A c.171C>G p.H57Q Missense 3/23 -
2-25523014-G-T DNMT3A c.171C>A p.H57Q Missense 3/23 -
4-106194065-A-C TET2 c.4527A>C p.K1509N Missense 10/11 -
4-106194065-A-T TET2 c.4527A>T p.K1509N Missense 10/11 -
4-106194066-C-A TET2 c.4528C>A p.Q1510K Missense 10/11 -
2-25463263-T-G DNMT3A c.2230A>C p.K744Q Missense 19/23 -
2-25463281-G-T DNMT3A c.2212C>A p.L738M Missense 19/23 -
2-25463293-A-C DNMT3A c.2200T>G p.F734V Missense 19/23 -
2-25463311-C-T DNMT3A c.2182G>A p.G728S Missense 19/23 -
2-25463314-T-G DNMT3A c.2179A>C p.T727P Missense 19/23 -
2-25463317-C-A DNMT3A c.2176G>T p.G726C Missense 19/23 -
2-25463511-T-G DNMT3A c.2171A>C p.Y724S Missense 18/23 -
2-25463521-T-G DNMT3A c.2161A>C p.K721Q Missense 18/23 -
2-25463529-G-T DNMT3A c.2153C>A p.P718H Missense 18/23 -
2-25463530-G-T DNMT3A c.2152C>A p.P718T Missense 18/23 -
2-25463532-T-G DNMT3A c.2150A>C p.N717T Missense 18/23 -
2-25523015-T-G DNMT3A c.170A>C p.H57P Missense 3/23 -
4-106194066-C-G TET2 c.4528C>G p.Q1510E Missense 10/11 -
2-25523016-G-C DNMT3A c.169C>G p.H57D Missense 3/23 -
2-25523016-G-T DNMT3A c.169C>A p.H57N Missense 3/23 -
2-25523021-C-G DNMT3A c.164G>C p.R55P Missense 3/23 -
2-25523025-T-C DNMT3A c.160A>G p.K54E Missense 3/23 -
2-25463542-A-G DNMT3A c.2140T>C p.S714P Missense 18/23 -
2-25463544-A-G DNMT3A c.2138T>C p.L713P Missense 18/23 -
2-25463546-G-T DNMT3A c.2136C>A p.D712E Missense 18/23 -
2-25463547-T-G DNMT3A c.2135A>C p.D712A Missense 18/23 -
4-106196226-C-G TET2 c.4559C>G p.P1520R Missense 11/11 -
4-106196228-G-T TET2 c.4561G>T p.V1521F Missense 11/11 -
4-106196229-T-C TET2 c.4562T>C p.V1521A Missense 11/11 -
4-106196232-T-A TET2 c.4565T>A p.M1522K Missense 11/11 -
4-106196232-T-G TET2 c.4565T>G p.M1522R Missense 11/11 -
2-25523028-T-C DNMT3A c.157A>G p.R53G Missense 3/23 -
2-25523036-C-T DNMT3A c.149G>A p.R50Q Missense 3/23 -
2-25523042-A-C DNMT3A c.143T>G p.V48G Missense 3/23 -
2-25463548-C-A DNMT3A c.2134G>T p.D712Y Missense 18/23 -
2-25463549-A-C DNMT3A c.2133T>G p.N711K Missense 18/23 -
2-25463556-G-T DNMT3A c.2126C>A p.P709H Missense 18/23 -
2-25463567-A-C DNMT3A c.2115T>G p.I705M Missense 18/23 -
2-25463571-A-C DNMT3A c.2111T>G p.V704G Missense 18/23 -
4-106196233-G-C TET2 c.4566G>C p.M1522I Missense 11/11 -
4-106196235-A-G TET2 c.4568A>G p.Q1523R Missense 11/11 -
4-106196238-A-G TET2 c.4571A>G p.Q1524R Missense 11/11 -
4-106196239-G-C TET2 c.4572G>C p.Q1524H Missense 11/11 -
4-106196239-G-T TET2 c.4572G>T p.Q1524H Missense 11/11 -
4-106196240-T-C TET2 c.4573T>C p.S1525P Missense 11/11 -
2-25464477-C-G DNMT3A c.2036G>C p.G679A Missense 17/23 -
2-25464486-C-G DNMT3A c.2027G>C p.R676P Missense 17/23 -
2-25464489-A-C DNMT3A c.2024T>G p.V675G Missense 17/23 -
2-25464491-C-G DNMT3A c.2022G>C p.M674I Missense 17/23 -
2-25464498-A-C DNMT3A c.2015T>G p.V672G Missense 17/23 -
2-25464501-G-T DNMT3A c.2012C>A p.T671K Missense 17/23 -
4-106196241-C-G TET2 c.4574C>G p.S1525C Missense 11/11 -
4-106196244-A-G TET2 c.4577A>G p.Q1526R Missense 11/11 -
2-25523042-A-G DNMT3A c.143T>C p.V48A Missense 3/23 -
2-25523042-A-T DNMT3A c.143T>A p.V48E Missense 3/23 -
2-25523046-T-C DNMT3A c.139A>G p.K47E Missense 3/23 -
2-25523075-T-C DNMT3A c.110A>G p.E37G Missense 3/23 -
2-25523078-T-C DNMT3A c.107A>G p.E36G Missense 3/23 -
2-25523082-T-G DNMT3A c.103A>C p.K35Q Missense 3/23 -
2-25523091-G-T DNMT3A c.94C>A p.P32T Missense 3/23 -
2-25523093-T-G DNMT3A c.92A>C p.E31A Missense 3/23 -
2-25523102-T-C DNMT3A c.83A>G p.E28G Missense 3/23 -
4-106196245-G-C TET2 c.4578G>C p.Q1526H Missense 11/11 -
4-106196247-A-C TET2 c.4580A>C p.Q1527P Missense 11/11 -
4-106196247-A-G TET2 c.4580A>G p.Q1527R Missense 11/11 -
4-106196248-G-C TET2 c.4581G>C p.Q1527H Missense 11/11 -
4-106196265-A-C TET2 c.4598A>C p.K1533T Missense 11/11 -
4-106196296-A-C TET2 c.4629A>C p.R1543S Missense 11/11 -
2-25536816-C-G DNMT3A c.38G>C p.S13T Missense 2/23 -
2-25536831-C-G DNMT3A c.23G>C p.G8A Missense 2/23 -
2-25536832-C-T DNMT3A c.22G>A p.G8S Missense 2/23 -
2-25536833-G-T DNMT3A c.21C>A p.S7R Missense 2/23 -
2-25536835-T-G DNMT3A c.19A>C p.S7R Missense 2/23 -
2-25464502-T-G DNMT3A c.2011A>C p.T671P Missense 17/23 -
2-25464508-A-C DNMT3A c.2005T>G p.S669A Missense 17/23 -
2-25464515-A-C DNMT3A c.1998T>G p.C666W Missense 17/23 -
2-25464517-A-C DNMT3A c.1996T>G p.C666G Missense 17/23 -
4-106196319-A-C TET2 c.4652A>C p.H1551P Missense 11/11 -
2-25464519-A-T DNMT3A c.1994T>A p.V665E Missense 17/23 -
2-25536844-T-G DNMT3A c.10A>C p.M4L Missense 2/23 -
2-25536851-C-G DNMT3A c.3G>C p.M1? Missense 2/23 -
2-25536852-A-C DNMT3A c.2T>G p.M1? Missense 2/23 -
2-25536852-A-G DNMT3A c.2T>C p.M1? Missense 2/23 -
2-25536852-A-T DNMT3A c.2T>A p.M1? Missense 2/23 -
2-25536853-T-G DNMT3A c.1A>C p.M1? Missense 2/23 -
4-106196325-A-C TET2 c.4658A>C p.Q1553P Missense 11/11 -
4-106196333-T-A TET2 c.4666T>A p.S1556T Missense 11/11 -
4-106196333-T-C TET2 c.4666T>C p.S1556P Missense 11/11 -
4-106196333-T-G TET2 c.4666T>G p.S1556A Missense 11/11 -
4-106196337-T-A TET2 c.4670T>A p.V1557D Missense 11/11 -
4-106196337-T-G TET2 c.4670T>G p.V1557G Missense 11/11 -
4-106196351-G-T TET2 c.4684G>T p.A1562S Missense 11/11 -
4-106196360-T-G TET2 c.4693T>G p.S1565A Missense 11/11 -
4-106196363-A-C TET2 c.4696A>C p.T1566P Missense 11/11 -
4-106196474-C-A TET2 c.4807C>A p.Q1603K Missense 11/11 -
4-106196475-A-C TET2 c.4808A>C p.Q1603P Missense 11/11 -
4-106196478-C-A TET2 c.4811C>A p.A1604D Missense 11/11 -
4-106196480-G-C TET2 c.4813G>C p.A1605P Missense 11/11 -
4-106196481-C-A TET2 c.4814C>A p.A1605E Missense 11/11 -
2-198266490-C-A SF3B1 c.2346G>T p.E782D Missense 16/25 -
2-198266491-T-G SF3B1 c.2345A>C p.E782A Missense 16/25 -
2-198266500-G-T SF3B1 c.2336C>A p.S779Y Missense 16/25 -
2-25464522-T-C DNMT3A c.1991A>G p.E664G Missense 17/23 -
2-25464528-G-C DNMT3A c.1985C>G p.A662G Missense 17/23 -
2-25464543-A-C DNMT3A c.1970T>G p.V657G Missense 17/23 -
2-25464543-A-T DNMT3A c.1970T>A p.V657E Missense 17/23 -
2-25464547-G-T DNMT3A c.1966C>A p.Q656K Missense 17/23 -
4-106196507-C-A TET2 c.4840C>A p.P1614T Missense 11/11 -
4-106196561-C-A TET2 c.4894C>A p.Q1632K Missense 11/11 -
4-106196564-T-G TET2 c.4897T>G p.C1633G Missense 11/11 -
4-106196567-A-C TET2 c.4900A>C p.N1634H Missense 11/11 -
4-106196574-A-C TET2 c.4907A>C p.N1636T Missense 11/11 -
4-106196583-T-G TET2 c.4916T>G p.V1639G Missense 11/11 -
4-106196588-A-C TET2 c.4921A>C p.N1641H Missense 11/11 -
4-106196589-A-C TET2 c.4922A>C p.N1641T Missense 11/11 -
4-106196594-T-C TET2 c.4927T>C p.S1643P Missense 11/11 -
2-25464558-T-C DNMT3A c.1955A>G p.D652G Missense 17/23 -
2-198266501-A-T SF3B1 c.2335T>A p.S779T Missense 16/25 -
2-198266516-T-G SF3B1 c.2320A>C p.I774L Missense 16/25 -
2-198266531-C-A SF3B1 c.2305G>T p.V769L Missense 16/25 -
2-198266532-T-G SF3B1 c.2304A>C p.E768D Missense 16/25 -
2-198266540-T-G SF3B1 c.2296A>C p.T766P Missense 16/25 -
2-198266557-T-G SF3B1 c.2279A>C p.E760A Missense 16/25 -
2-198266562-A-T SF3B1 c.2274T>A p.D758E Missense 16/25 -
2-198266563-T-G SF3B1 c.2273A>C p.D758A Missense 16/25 -
2-198266797-A-T SF3B1 c.2135T>A p.L712* Nonsense 15/25 -
2-198266815-G-T SF3B1 c.2117C>A p.A706D Missense 15/25 -
2-198266830-A-C SF3B1 c.2102T>G p.V701G Missense 15/25 -
4-106196597-C-A TET2 c.4930C>A p.P1644T Missense 11/11 -
4-106196604-T-G TET2 c.4937T>G p.L1646R Missense 11/11 -
4-106196607-G-T TET2 c.4940G>T p.G1647V Missense 11/11 -
4-106196613-A-T TET2 c.4946A>T p.Y1649F Missense 11/11 -
4-106196622-A-G TET2 c.4955A>G p.Q1652R Missense 11/11 -
4-106196624-T-C TET2 c.4957T>C p.S1653P Missense 11/11 -
4-106196624-T-G TET2 c.4957T>G p.S1653A Missense 11/11 -
4-106196647-G-T TET2 c.4980G>T p.R1660S Missense 11/11 -
4-106196648-T-G TET2 c.4981T>G p.Y1661D Missense 11/11 -
2-25464565-G-T DNMT3A c.1948C>A p.L650M Missense 17/23 -
2-25464567-A-C DNMT3A c.1946T>G p.V649G Missense 17/23 -
2-25464567-A-G DNMT3A c.1946T>C p.V649A Missense 17/23 -
2-25464567-A-T DNMT3A c.1946T>A p.V649E Missense 17/23 -
2-25466784-A-C DNMT3A c.1919T>G p.F640C Missense 16/23 -
2-25466791-A-C DNMT3A c.1912T>G p.S638A Missense 16/23 -
2-25466794-G-T DNMT3A c.1909C>A p.L637M Missense 16/23 -
2-25466796-A-G DNMT3A c.1907T>C p.V636A Missense 16/23 -
2-25466802-A-C DNMT3A c.1901T>G p.I634S Missense 16/23 -
2-25466809-T-C DNMT3A c.1894A>G p.K632E Missense 16/23 -
2-25466823-G-T DNMT3A c.1880C>A p.P627Q Missense 16/23 -
2-198266845-T-G SF3B1 c.2087A>C p.D696A Missense 15/25 -
2-198266848-A-C SF3B1 c.2084T>G p.V695G Missense 15/25 -
2-198267284-T-G SF3B1 c.2073A>C p.E691D Missense 14/25 -
4-106196661-A-C TET2 c.4994A>C p.D1665A Missense 11/11 -
2-198267286-C-A SF3B1 c.2071G>T p.E691* Nonsense 14/25 -
2-198267289-T-A SF3B1 c.2068A>T p.I690F Missense 14/25 -
2-198267291-A-T SF3B1 c.2066T>A p.I689N Missense 14/25 -
2-198267295-C-A SF3B1 c.2062G>T p.E688* Nonsense 14/25 -
2-198267302-A-C SF3B1 c.2055T>G p.S685R Missense 14/25 -
2-198267302-A-T SF3B1 c.2055T>A p.S685R Missense 14/25 -
2-198267354-A-T SF3B1 c.2003T>A p.V668E Missense 14/25 -
2-198267410-T-G SF3B1 c.1947A>C p.K649N Missense 14/25 -
2-198267410-T-A SF3B1 c.1947A>T p.K649N Missense 14/25 -
4-106196652-C-A TET2 c.4985C>A p.P1662Q Missense 11/11 -
4-106196670-C-A TET2 c.5003C>A p.S1668Y Missense 11/11 -
4-106196672-A-C TET2 c.5005A>C p.K1669Q Missense 11/11 -
4-106196673-A-C TET2 c.5006A>C p.K1669T Missense 11/11 -
4-106196673-A-G TET2 c.5006A>G p.K1669R Missense 11/11 -
2-25467061-A-G DNMT3A c.1814T>C p.L605P Missense 15/23 -
2-198267451-C-A SF3B1 c.1906G>T p.A636S Missense 14/25 -
2-25466826-A-C DNMT3A c.1877T>G p.V626G Missense 16/23 -
2-25466838-A-C DNMT3A c.1865T>G p.V622G Missense 16/23 -
2-25466848-G-T DNMT3A c.1855C>A