PMID: 34918496

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
Kim, Soon-Chan SC, Park, Ji Won JW, Seo, Ha-Young HY, Kim, Minjung M, Park, Jae-Hyeon JH, Kim, Ga-Hye GH, Lee, Ja Oh JO, Shin, Young-Kyoung YK, Bae, Jeong Mo JM, Koo, Bon-Kyoung BK, Jeong, Seung-Yong SY, Ku, Ja-Lok JL
2022-02

557 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-16068463-C-T NCOR1 c.448G>A p.G150R Missense 5/46 -
13-28626755-C-T FLT3 c.541G>A p.A181T Missense 5/24 -
13-21563311-G-A LATS2 c.608C>T p.A203V Missense 4/8 -
19-13419248-C-T CACNA1A c.1763G>A p.R588H Missense 13/47 -
X-39923607-G-A BCOR c.3484C>T p.R1162C Missense 7/15 -
7-151932991-G-A KMT2C c.2680C>T p.R894W Missense 16/59 -
4-187557893-T-C FAT1 c.3818A>G p.H1273R Missense 5/27 -
7-151935910-C-T KMT2C c.2534G>A p.G845E Missense 15/59 -
1-11319442-C-T MTOR c.25G>A p.A9T Missense 2/58 -
17-16068343-G-A NCOR1 c.568C>T p.R190* Nonsense 5/46 -
11-71948536-C-G INPPL1 c.3248C>G p.A1083G Missense 26/28 -
17-7579331-G-C TP53 c.356C>G p.A119G Missense 4/11 -
6-33756532-G-A LEMD2 c.362C>T p.A121V Missense 1/9 -
2-241696840-ATCCTCC-A KIF1A c.2748_2753delGGAGGA p.E916_E917del InFrameDeletion 27/49 -
7-151932990-C-T KMT2C c.2681G>A p.R894Q Missense 16/59 -
17-16068340-C-T NCOR1 c.571G>A p.E191K Missense 5/46 -
1-145440273-T-G TXNIP c.579T>G p.D193E Missense 5/8 -
17-16068396-G-A NCOR1 c.515C>T p.S172L Missense 5/46 -
2-241696840-ATCC-A KIF1A c.2751_2753delGGA p.E917del InFrameDeletion 27/49 -
19-13318672-CCTGCTG-C CACNA1A c.6970_6975delCAGCAG p.Q2324_Q2325del InFrameDeletion 47/47 -
18-42532072-A-C SETBP1 c.2767A>C p.I923L Missense 4/6 -
10-112356281-A-C SMC3 c.2089A>C p.N697H Missense 19/29 -
19-15281611-T-G NOTCH3 c.4762A>C p.N1588H Missense 26/33 -
X-53566722-T-G HUWE1 c.11528A>C p.E3843A Missense 75/84 -
2-43451739-CCTG-C ZFP36L2 c.1201_1203delCAG p.Q401del InFrameDeletion 2/2 -
6-29910581-C-A HLA-A c.121C>A p.R41S Missense 2/8 -
19-13318672-CCTG-C CACNA1A c.6973_6975delCAG p.Q2325del InFrameDeletion 47/47 -
7-151932985-G-A KMT2C c.2686C>T p.P896S Missense 16/59 -
1-27023769-C-T ARID1A c.875C>T p.T292I Missense 1/20 -
22-21347167-C-T LZTR1 c.1234C>T p.R412C Missense 11/21 -
1-120458550-A-C NOTCH2 c.6795T>G p.N2265K Missense 34/34 -
19-36215969-G-A KMT2B c.3509G>A p.R1170H Missense 10/37 -
X-47040781-AGGG-A RBM10 c.1418_1420delGGG p.G473del InFrameDeletion 13/24 -
4-55161404-G-A PDGFRA c.3235G>A p.D1079N Missense 23/23 -
3-121200622-G-A POLQ c.6008C>T p.P2003L Missense 19/30 -
16-3807363-T-TG CREBBP c.3623_3623dupC p.Q1209Tfs*25 Frameshift 19/31 -
3-168833624-AC-A MECOM c.2035delG p.V679Wfs*37 Frameshift 8/17 -
17-7800488-CG-C CHD3 c.1795delG p.E599Rfs*11 Frameshift 11/40 -
3-30713133-TA-T TGFBR2 c.458delA p.Y153Lfs*10 Frameshift 4/7 -
4-55151624-C-T PDGFRA c.2410C>T p.R804* Nonsense 17/23 -
6-152201867-C-T ESR1 c.721C>T p.R241W Missense 3/8 -
9-70912543-A-T CBWD3 c.864A>T p.E288D Missense 12/15 -
6-31324488-C-CGGAG HLA-B c.319_320insCTCC p.G107Afs*33 Frameshift 2/8 -
7-117144338-AGA-TGT CFTR c.85_87delAGAinsTGT p.R29C Missense 2/27 -
X-153595780-G-A FLNA c.853C>T p.R285C Missense 5/48 -
16-72821593-AGCC-A ZFHX3 c.10579_10581delGGC p.G3527del InFrameDeletion 10/10 -
1-120510817-G-A NOTCH2 c.1147C>T p.P383S Missense 7/34 -
16-72992310-C-T ZFHX3 c.1735G>A p.A579T Missense 2/10 -
9-139390839-A-G NOTCH1 c.7352T>C p.L2451P Missense 34/34 -
13-72256001-G-T DACH1 c.896C>A p.T297N Missense 2/11 -
13-21619978-T-A LATS2 c.188A>T p.Q63L Missense 2/8 -
1-158592945-T-C SPTA1 c.5948A>G p.E1983G Missense 43/52 -
19-1430254-C-G DAZAP1 c.764C>G p.A255G Missense 10/12 -
14-92537396-G-GCTGCTGC ATXN3 c.873_874insGCAGCAG p.Q292Afs*28 SpliceAcceptorInsertion 10/11 -
22-36700141-GGAA-G MYH9 c.2287_2289delTTC p.F763del InFrameDeletion 19/41 -
17-29559719-T-C NF1 c.3316T>C p.Y1106H Missense 26/58 -
1-201983060-C-A ELF3 c.909C>A p.F303L Missense 8/9 -
10-43596057-C-T RET c.224C>T p.T75M Missense 2/20 -
19-630075-C-T POLRMT c.287G>A p.S96N Missense 3/21 -
4-187524698-C-T FAT1 c.10982G>A p.R3661H Missense 19/27 -
11-118343133-G-A KMT2A c.1259G>A p.R420Q Missense 3/36 -
21-36164610-T-C RUNX1 c.1265A>G p.E422G Missense 9/9 -
15-90634852-G-A IDH2 c.140C>T p.A47V Missense 2/11 -
8-38285563-ATGC-A FGFR1 c.495_497delGCA p.L165_H166delinsF MultiAAMissense 5/18 -
22-41513333-ACAG-A EP300 c.239_241delAGC p.Q80del InFrameDeletion 2/31 -
11-118374726-C-T KMT2A c.8119C>T p.R2707W Missense 27/36 -
X-47032531-G-A RBM10 c.437G>A p.R146H Missense 5/24 -
14-92537354-C-CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA p.G306Qfs*38 Frameshift 10/11 -
6-31324495-AGGT-A HLA-B c.311_313delACC p.N104_L105delinsM MultiAAMissense 2/8 -
2-43453439-G-C ZFP36L2 c.16C>G p.L6V Missense 1/2 -
21-33074680-G-A SCAF4 c.334C>T p.R112C Missense 5/20 -
6-31324493-GC-G HLA-B c.315delG p.R106Afs*45 Frameshift 2/8 -
X-53440264-G-A SMC1A c.533C>T p.A178V Missense 4/25 -
17-80789385-G-A ZNF750 c.946C>T p.P316S Missense 2/3 -
22-41572510-G-A EP300 c.5039G>A p.R1680H Missense 30/31 -
X-96502837-C-T DIAPH2 c.2843C>T p.T948I Missense 23/27 -
2-198274610-G-A SF3B1 c.788C>T p.A263V Missense 7/25 -
16-2135264-G-A TSC2 c.4603G>A p.D1535N Missense 36/42 -
7-151945228-G-A KMT2C c.2291C>T p.S764F Missense 14/59 -
X-53619395-C-T HUWE1 c.3935G>A p.R1312H Missense 33/84 -
9-131339475-C-T SPTAN1 c.853C>T p.R285* Nonsense 7/57 -
6-33740476-G-A LEMD2 c.1441C>T p.R481C Missense 9/9 -
X-41055978-T-C USP9X c.4220T>C p.L1407P Missense 28/45 -
17-7793036-G-A CHD3 c.155G>A p.R52Q Missense 2/40 -
1-27057847-TC-T ARID1A c.1558delC p.Q520Sfs*99 Frameshift 3/20 -
5-79968644-G-A MSH3 c.994G>A p.A332T Missense 6/24 -
17-29496992-C-A NF1 c.563C>A p.A188E Missense 5/58 -
19-13395982-CT-C CACNA1A c.3591delA p.E1198Rfs*43 Frameshift 21/47 -
14-21867864-A-C CHD8 c.4818T>G p.S1606R Missense 26/38 -
3-142279185-A-C ATR c.1461T>G p.I487M Missense 6/47 -
14-21876693-A-C CHD8 c.2508T>G p.D836E Missense 13/38 -
9-139396287-C-T NOTCH1 c.5551G>A p.A1851T Missense 30/34 -
5-56111878-G-C MAP3K1 c.478G>C p.A160P Missense 1/20 -
19-47503784-G-A ARHGAP35 c.4339G>A p.A1447T Missense 7/7 -
2-212989514-G-T ERBB4 c.197C>A p.T66N Missense 2/28 -
3-41267246-G-A CTNNB1 c.830G>A p.G277D Missense 6/15 -
17-70119722-A-C SOX9 c.724A>C p.K242Q Missense 3/3 -
11-108192116-G-A ATM c.6541G>A p.E2181K Missense 45/63 -
17-70119713-A-C SOX9 c.715A>C p.T239P Missense 3/3 -
17-70119716-A-C SOX9 c.718A>C p.T240P Missense 3/3 -
9-137710547-G-C COL5A1 c.4276G>C p.G1426R Missense 55/66 -
13-20626437-C-T ZMYM2 c.2479C>T p.R827* Nonsense 14/25 -
19-10602698-C-T KEAP1 c.880G>A p.D294N Missense 3/6 -
20-31019177-A-G ASXL1 c.772A>G p.I258V Missense 9/13 -
19-11143974-A-T SMARCA4 c.3555A>T p.Q1185H Missense 26/35 -
19-11097584-T-C SMARCA4 c.764T>C p.M255T Missense 5/35 -
10-89711899-C-A PTEN c.517C>A p.R173S Missense 6/9 -
4-187628197-G-C FAT1 c.2785C>G p.P929A Missense 2/27 -
5-112155043-T-G APC c.1312+2T>G - IntronicSNV - 10/15
9-8500963-C-T PTPRD c.1919G>A p.G640D Missense 24/46 -
3-52440298-G-T BAP1 c.754C>A p.R252S Missense 9/17 -
1-27100903-TGG-T ARID1A c.4187_4188delGG p.G1396Afs*48 Frameshift 18/20 -
19-33409241-G-A CEP89 c.1273C>T p.Q425* Nonsense 13/19 -
8-69243423-C-T C8orf34 c.176C>T p.P59L Missense 1/14 -
15-51503059-GT-G CYP19A1 c.1457delA p.N486Tfs*5 Frameshift 10/10 -
16-3843494-C-T CREBBP c.1109G>A p.R370Q Missense 4/31 -
2-25966872-T-TG ASXL2 c.2333dupC p.V779Sfs*25 Frameshift 13/13 -
14-92547328-G-A ATXN3 c.853C>T p.R285* Nonsense 9/11 -
9-139410148-C-T NOTCH1 c.1690G>A p.E564K Missense 11/34 -
13-48878166-G-C RB1 c.118G>C p.E40Q Missense 1/27 -
13-32937510-G-A BRCA2 c.8171G>A p.G2724E Missense 18/27 -
10-43617395-G-C RET c.2732G>C p.G911A Missense 16/20 -
16-339531-C-T AXIN1 c.2371G>A p.G791R Missense 10/11 -
X-96185790-G-A DIAPH2 c.1037G>A p.R346Q Missense 10/27 -
9-137323779-C-T RXRA c.1072C>T p.R358W Missense 8/10 -
6-31324139-A-G HLA-B c.424T>C p.Y142H Missense 3/8 -
X-76940033-A-G ATRX c.715T>C p.F239L Missense 9/35 -
6-152129060-C-A ESR1 c.13C>A p.L5I Missense 1/8 -
1-158587844-G-T SPTA1 c.6533C>A p.A2178D Missense 46/52 -
14-95562618-C-T DICER1 c.4639G>A p.D1547N Missense 23/27 -
13-32929193-A-C BRCA2 c.7203A>C p.R2401S Missense 14/27 -
17-16062106-T-G NCOR1 c.700A>C p.S234R Missense 6/46 -
5-56168782-A-G MAP3K1 c.1636A>G p.T546A Missense 9/20 -
4-55138668-A-G PDGFRA c.1345A>G p.I449V Missense 9/23 -
22-36718479-G-A MYH9 c.700C>T p.R234C Missense 6/41 -
14-92537354-C-CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA p.G306Qfs*39 Frameshift 10/11 -
12-56491686-C-T ERBB3 c.2578C>T p.P860S Missense 21/28 -
19-3978160-G-T EEF2 c.1724C>A p.P575Q Missense 12/15 -
9-131344821-A-G SPTAN1 c.1636A>G p.T546A Missense 13/57 -
19-13318672-CCTGCTGCTG-C CACNA1A c.6967_6975delCAGCAGCAG p.Q2323_Q2325del InFrameDeletion 47/47 -
8-38282110-G-A FGFR1 c.853C>T p.P285S Missense 7/18 -
7-152012326-A-G KMT2C c.487T>C p.W163R Missense 4/59 -
9-139396362-C-T NOTCH1 c.5476G>A p.E1826K Missense 30/34 -
15-42034890-G-A MGA c.4732G>A p.V1578I Missense 15/24 -
16-68855966-GC-G CDH1 c.1779delC p.I594Yfs*19 Frameshift 12/16 -
7-1276048-G-A UNCX c.1031G>A p.R344H Missense 3/3 -
9-133730467-C-T ABL1 c.533C>T p.T178I Missense 3/11 -
6-150005540-T-C LATS1 c.685A>G p.S229G Missense 4/8 -
19-3983221-G-A EEF2 c.287C>T p.A96V Missense 3/15 -
15-59323374-T-C RNF111 c.353T>C p.L118P Missense 2/14 -
1-158626362-C-T SPTA1 c.2890G>A p.A964T Missense 20/52 -
X-70470502-G-A ZMYM3 c.853C>T p.R285W Missense 5/25 -
1-6246837-ATTC-A RPL22 c.279_281delGAA p.K93del InFrameDeletion 4/4 -
2-29450487-A-C ALK c.2867T>G p.V956G Missense 17/29 -
22-50717107-G-A PLXNB2 c.4565C>T p.T1522I Missense 29/37 -
6-152163812-C-T ESR1 c.533C>T p.S178F Missense 2/8 -
18-48573504-G-A SMAD4 c.88G>A p.G30R Missense 2/12 -
14-95592924-G-T DICER1 c.896C>A p.S299* Nonsense 7/27 -
X-53409252-T-C SMC1A c.3338A>G p.Y1113C Missense 22/25 -
9-8524957-C-T PTPRD c.647G>A p.R216H Missense 18/46 -
22-36722692-G-A MYH9 c.533C>T p.A178V Missense 5/41 -
15-57489983-CA-C TCF12 c.546delA p.V183Sfs*62 Frameshift 8/21 -
11-100998483-G-A PGR c.1319C>T p.T440M Missense 1/8 -
17-7800487-C-CG CHD3 c.1795_1795dup p.E599Gfs*3 Frameshift 11/40 -
19-36214675-A-C KMT2B c.3101A>C p.E1034A Missense 8/37 -
17-70119704-A-AC SOX9 c.710_710dupC p.P238Tfs*14 Frameshift 3/3 -
7-148514363-T-C EZH2 c.1361A>G p.D454G Missense 11/20 -
7-55087060-T-C EGFR c.88+2T>C - IntronicSNV - 1/27
X-123224815-G-A STAG2 c.3578+1G>A - IntronicSNV - 32/34
X-41198337-G-A DDX3X c.151+1G>A - IntronicSNV - 3/16
9-80646014-A-G GNAQ c.136+2T>C - IntronicSNV - 1/6
12-6702576-GAGATACCTTCAT-G CHD4 c.2509_2514+6del12 - SpliceDonorDeletion 16/40 16/39
7-151884446-G-A KMT2C c.4909C>T p.L1637F Missense 33/59 -
9-131371463-T-G SPTAN1 c.4658T>G p.L1553R Missense 36/57 -
9-137328444-C-T RXRA c.1373C>T p.P458L Missense 10/10 -
10-89717673-G-C PTEN c.698G>C p.R233P Missense 7/9 -
12-6701976-C-T CHD4 c.2660G>A p.R887Q Missense 18/40 -
12-49431832-C-T KMT2D c.9307G>A p.A3103T Missense 35/55 -
12-112893764-C-T PTPN11 c.653C>T p.T218M Missense 6/16 -
17-16089983-A-G NCOR1 c.127T>C p.Y43H Missense 3/46 -
17-80788691-G-A ZNF750 c.1499C>T p.A500V Missense 3/3 -
19-622742-G-A POLRMT c.1466C>T p.A489V Missense 8/21 -
19-33793313-G-A CEBPA c.8C>T p.S3L Missense 1/1 -
22-50726388-C-T PLXNB2 c.1459G>A p.G487S Missense 6/37 -
X-31200876-T-A DMD c.9953A>T p.E3318V Missense 68/79 -
X-70469472-A-T ZMYM3 c.1309T>A p.F437I Missense 7/25 -
X-153588540-T-C FLNA c.3623A>G p.Y1208C Missense 22/48 -
2-241676493-C-A KIF1A c.3994G>T p.A1332S Missense 38/49 -
3-47098492-G-A SETD2 c.6782C>T p.A2261V Missense 15/21 -
3-138474797-A-G PIK3CB c.196T>C p.Y66H Missense 4/24 -
4-55131130-T-C PDGFRA c.673T>C p.Y225H Missense 5/23 -
15-59323836-AAGG-A RNF111 c.818_820delGAG p.G273del InFrameDeletion 2/14 -
3-138431118-A-G PIK3CB c.1331T>C p.M444T Missense 10/24 -
8-38271515-T-C FGFR1 c.2213A>G p.H738R Missense 17/18 -
12-46243386-T-C ARID2 c.1739T>C p.V580A Missense 14/21 -
14-21897136-A-G CHD8 c.1202T>C p.V401A Missense 3/38 -
16-2138238-A-G TSC2 c.5171A>G p.Q1724R Missense 41/42 -
16-72821086-C-A ZFHX3 c.11089G>T p.G3697* Nonsense 10/10 -
1-27023137-GGGTGGC-G ARID1A c.246_251delTGGCGG p.G86_G87del InFrameDeletion 1/20 -
4-106196925-AT-TG TET2 c.5258_5259delATinsTG p.N1753M Missense 11/11 -
X-53430809-T-C SMC1A c.2213A>G p.E738G Missense 14/25 -
X-32361384-C-G DMD c.5606G>C p.R1869T Missense 40/79 -
17-29670046-T-C NF1 c.7082T>C p.M2361T Missense 48/58 -
22-36690263-G-A MYH9 c.3712C>T p.Q1238* Nonsense 28/41 -
10-63852189-G-T ARID5B c.2967G>T p.M989I Missense 10/10 -
10-63829479-G-T ARID5B c.1122G>T p.W374C Missense 8/10 -
4-106156508-G-A TET2 c.1409G>A p.C470Y Missense 3/11 -
6-161505595-G-A MAP3K4 c.2318G>A p.S773N Missense 7/27 -
9-36966631-T-C PAX5 c.695A>G p.Q232R Missense 6/10 -
5-80024712-T-A MSH3 c.1496T>A p.V499E Missense 10/24 -
5-79950628-T-G MSH3 c.82T>G p.F28V Missense 1/24 -
17-63554450-T-A AXIN2 c.289A>T p.T97S Missense 2/11 -
17-63533657-GA-TT AXIN2 c.1496_1497delTCinsAA p.L499Q Missense 6/11 -
1-27100114-G-A ARID1A c.3910G>A p.A1304T Missense 16/20 -
1-27057758-C-T ARID1A c.1466C>T p.P489L Missense 3/20 -
5-112179037-A-AT APC c.7746_7747insT p.K2583* Nonsense 16/16 -
5-79974774-T-A MSH3 c.1202T>A p.V401E Missense 8/24 -
18-45375011-C-T SMAD2 c.832G>A p.A278T Missense 8/11 -
1-27106282-A-C ARID1A c.5893A>C p.T1965P Missense 20/20 -
17-63554316-G-T AXIN2 c.423C>A p.N141K Missense 2/11 -
17-56448381-T-C RNF43 c.266A>G p.Y89C Missense 3/10 -
18-42643128-A-C SETBP1 c.4256A>C p.K1419T Missense 6/6 -
X-20173527-T-C RPS6KA3 c.2212A>G p.T738A Missense 22/22 -
X-41206250-G-A DDX3X c.1754G>A p.R585H Missense 15/17 -
1-201982155-T-G ELF3 c.679T>G p.F227V Missense 6/9 -
3-138409867-C-A PIK3CB c.2011G>T p.G671W Missense 15/24 -
4-187629955-T-C FAT1 c.1027A>G p.T343A Missense 2/27 -
7-1276195-A-G UNCX c.1178A>G p.Q393R Missense 3/3 -
17-16021266-T-G NCOR1 c.1991A>C p.N664T Missense 18/46 -
X-32486689-T-G DMD c.3088A>C p.K1030Q Missense 23/79 -
11-100998496-C-T PGR c.1306G>A p.E436K Missense 1/8 -
7-152132868-A-T KMT2C c.4T>A p.S2T Missense 1/59 -
8-117878908-C-T RAD21 c.61G>A p.A21T Missense 2/14 -
19-13318473-G-T CACNA1A c.7175C>A p.A2392E Missense 47/47 -
19-13409421-G-A CACNA1A c.3026C>T p.A1009V Missense 19/47 -
18-42531198-G-T SETBP1 c.1893G>T p.K631N Missense 4/6 -
22-36680286-T-C MYH9 c.5618A>G p.K1873R Missense 40/41 -
1-158619653-A-T SPTA1 c.3562T>A p.F1188I Missense 25/52 -
5-112179727-C-A APC c.8436C>A p.N2812K Missense 16/16 -
19-13616866-GGTC-G CACNA1A c.171_173delGAC p.T58del InFrameDeletion 1/47 -
1-158624411-GA-AG SPTA1 c.3025_3026delTCinsCT p.S1009L Missense 21/52 -
8-117878965-A-T RAD21 c.4T>A p.F2I Missense 2/14 -
1-16475304-C-T EPHA2 c.392G>A p.G131D Missense 3/17 -
3-168838939-C-T MECOM c.1037G>A p.R346Q Missense 7/17 -
7-151873937-C-A KMT2C c.8601G>T p.K2867N Missense 38/59 -
12-6692223-C-A CHD4 c.4117G>T p.G1373C Missense 27/40 -
14-95562408-G-T DICER1 c.4849C>A p.L1617I Missense 23/27 -
15-42019399-A-G MGA c.3452A>G p.E1151G Missense 10/24 -
16-72831636-A-G ZFHX3 c.4945T>C p.S1649P Missense 9/10 -
18-42532614-G-A SETBP1 c.3309G>A p.M1103I Missense 4/6 -
19-617321-C-T POLRMT c.3646G>A p.A1216T Missense 21/21 -
19-625176-C-T POLRMT c.901G>A p.A301T Missense 4/21 -
19-17950372-T-C JAK3 c.1355A>G p.E452G Missense 10/24 -
22-36688121-G-A MYH9 c.4255C>T p.Q1419* Nonsense 31/41 -
17-58740591-T-A PPM1D c.1496T>A p.V499E Missense 6/6 -
17-29541572-T-A NF1 c.1496T>A p.L499Q Missense 13/58 -
6-161469783-AT-TG MAP3K4 c.479_480delATinsTG p.N160M Missense 3/27 -
17-58733979-G-A PPM1D c.1037G>A p.C346Y Missense 5/6 -
11-32456702-A-G WT1 c.190T>C p.S69P Missense 1/10 -
19-18272856-C-T PIK3R2 c.896C>T p.P299L Missense 7/16 -
20-39791328-A-G PLCG1 c.644A>G p.Q215R Missense 6/32 -
21-36164863-C-T RUNX1 c.1012G>A p.A338T Missense 9/9 -
2-25497946-C-T DNMT3A c.503G>A p.G168D Missense 6/23 -
5-56183288-A-G MAP3K1 c.4198A>G p.T1400A Missense 18/20 -
7-6441995-A-C RAC1 c.497A>C p.K166T Missense 6/6 -
9-137534139-G-A COL5A1 c.106G>A p.A36T Missense 1/66 -
3-142281529-A-G ATR c.715T>C p.Y239H Missense 4/47 -
1-51439718-G-A CDKN2C c.283G>A p.D95N Missense 2/2 -
1-198697544-A-G PTPRC c.1796A>G p.Y599C Missense 16/33 -
1-198676010-AT-TG PTPRC c.833_834delATinsTG p.N278M Missense 9/33 -
1-229588361-G-A NUP133 c.3010C>T p.H1004Y Missense 22/26 -
2-25976508-C-T ASXL2 c.1037G>A p.G346D Missense 11/13 -
5-176637843-T-C NSD1 c.2443T>C p.C815R Missense 5/23 -
7-148481145-A-G CUL1 c.1274A>G p.Y425C Missense 11/22 -
7-151900107-A-G KMT2C c.4004T>C p.V1335A Missense 26/59 -
8-55371857-T-C SOX17 c.547T>C p.F183L Missense 2/2 -
9-8465545-C-G PTPRD c.3635G>C p.G1212A Missense 32/46 -
12-14631307-T-C ATF7IP c.2998T>C p.S1000P Missense 12/15 -
12-49444462-T-C KMT2D c.2909A>G p.E970G Missense 12/55 -
17-56435524-G-T RNF43 c.1613C>A p.P538H Missense 9/10 -
19-36211426-G-A KMT2B c.1177G>A p.A393T Missense 3/37 -
19-52709282-T-C PPP2R1A c.236T>C p.L79P Missense 3/15 -
X-32360342-C-T DMD c.5797G>A p.A1933T Missense 41/79 -
X-47424224-G-A ARAF c.229G>A p.A77T Missense 4/16 -
X-53222362-C-A KDM5C c.4470G>T p.E1490D Missense 26/26 -
X-53423204-C-T SMC1A c.2805G>A p.M935I Missense 18/25 -
X-53569416-T-C HUWE1 c.11464A>G p.T3822A Missense 74/84 -
X-53442040-T-A SMC1A c.188A>T p.D63V Missense 2/25 -
16-72821603-G-GCCA ZFHX3 c.10571_10572insTGG p.G3527dup InFrameInsertion 10/10 -
16-72821612-G-GCCA ZFHX3 c.10562_10563insTGG p.G3527dup InFrameInsertion 10/10 -
2-219449358-T-C CNOT9 c.344T>C p.I115T Missense 4/8 -
4-1955099-G-A NSD2 c.2186G>A p.R729H Missense 12/22 -
13-21549287-T-C LATS2 c.2989A>G p.M997V Missense 8/8 -
17-44115990-G-A KANSL1 c.2455C>T p.H819Y Missense 10/15 -
17-58701032-T-C PPM1D c.623T>C p.V208A Missense 2/6 -
19-36221628-G-A KMT2B c.5297G>A p.S1766N Missense 26/37 -
22-36698702-T-C MYH9 c.2411A>G p.Q804R Missense 20/41 -
22-50728239-A-G PLXNB2 c.775T>C p.Y259H Missense 3/37 -
1-198717305-A-C PTPRC c.2915A>C p.N972T Missense 27/33 -
10-63700160-CAGA-C ARID5B c.495_497delAGA p.D166del InFrameDeletion 3/10 -
4-187628620-A-G FAT1 c.2362T>C p.Y788H Missense 2/27 -
2-212570048-A-G ERBB4 c.1193T>C p.I398T Missense 10/28 -
22-41513266-ATGG-A EP300 c.176_178delGTG p.G59del InFrameDeletion 2/31 -
14-95571495-A-G DICER1 c.3182T>C p.L1061P Missense 20/27 -
15-75702479-G-C SIN3A c.1157C>G p.S386C Missense 7/21 -
16-3778042-C-T CREBBP c.7006G>A p.A2336T Missense 31/31 -
19-11144086-A-C SMARCA4 c.3667A>C p.N1223H Missense 26/35 -
22-50716694-G-A PLXNB2 c.4739C>T p.A1580V Missense 31/37 -
X-39933950-T-C BCOR c.649A>G p.M217V Missense 4/15 -
X-53577999-G-A HUWE1 c.9248C>T p.A3083V Missense 65/84 -
X-70472970-C-T ZMYM3 c.136G>A p.A46T Missense 2/25 -
X-76907820-C-A ATRX c.4341G>T p.E1447D Missense 15/35 -
X-79698705-A-C TENT5D c.667A>C p.I223L Missense 3/3 -
13-21565507-T-C LATS2 c.379A>G p.R127G Missense 3/8 -
14-95574352-A-G DICER1 c.2515T>C p.S839P Missense 16/27 -
16-72993149-G-T ZFHX3 c.896C>A p.T299N Missense 2/10 -
16-68857527-T-C CDH1 c.2162T>C p.L721P Missense 13/16 -
X-153595213-C-T FLNA c.874G>A p.E292K Missense 6/48 -
3-12645769-T-G RAF1 c.700A>C p.T234P Missense 7/17 -
16-68857523-TTTG-T CDH1 c.2158_2160delTTG p.L721del InFrameDeletion 13/16 -
14-92537396-G-GCTGCTGCTGCTGC ATXN3 c.873_874insGCAGCAGCAGCAG p.Q292Afs*30 SpliceAcceptorInsertion 10/11 -
16-68857520-GC-CT CDH1 c.2155_2156delGCinsCT p.A719L Missense 13/16 -
1-93300383-ATGC-A RPL5 c.237_239delTGC p.Y79_A80delins* MultiAAMissense 4/8 -
2-29449802-C-T ALK c.3053G>A p.G1018D Missense 18/29 -
2-70315740-A-T PCBP1 c.865A>T p.N289Y Missense 1/1 -
9-131344833-G-A SPTAN1 c.1648G>A p.A550T Missense 13/57 -
X-41073869-T-G USP9X c.5238T>G p.N1746K Missense 34/45 -
2-212566772-T-G ERBB4 c.1409A>C p.H470P Missense 12/28 -
2-212566775-T-G ERBB4 c.1406A>C p.Y469S Missense 12/28 -
2-212566778-T-G ERBB4 c.1403A>C p.Y468S Missense 12/28 -
6-74228684-C-T EEF1A1 c.592G>A p.G198S Missense 4/8 -
9-8528774-G-T PTPRD c.358C>A p.Q120K Missense 15/46 -
11-100998802-C-T PGR c.1000G>A p.G334R Missense 1/8 -
12-52345618-G-T ACVR1B c.91G>T p.A31S Missense 1/9 -
22-41513796-A-C EP300 c.700A>C p.T234P Missense 2/31 -
22-50717332-G-A PLXNB2 c.4498C>T p.R1500C Missense 28/37 -
17-70119731-G-C SOX9 c.733G>C p.V245L Missense 3/3 -
22-50725547-TGGC-T PLXNB2 c.1752_1754delGCC p.P585del InFrameDeletion 8/37 -
1-93299207-T-C RPL5 c.179T>C p.I60T Missense 3/8 -
3-142231136-G-C ATR c.4818C>G p.H1606Q Missense 27/47 -
8-55371977-G-A SOX17 c.667G>A p.D223N Missense 2/2 -
19-13409601-G-A CACNA1A c.2846C>T p.T949M Missense 19/47 -
4-55131157-A-C PDGFRA c.700A>C p.T234P Missense 5/23 -
4-55139835-T-A PDGFRA c.1496T>A p.V499E Missense 10/23 -
7-151948037-T-C KMT2C c.1636A>G p.M546V Missense 12/59 -
1-158641236-A-T SPTA1 c.1496T>A p.L499Q Missense 12/52 -
1-93299216-A-T RPL5 c.188A>T p.Q63L Missense 3/8 -
X-53432812-T-C SMC1A c.1622A>G p.N541S Missense 10/25 -
14-21897442-G-T CHD8 c.896C>A p.P299H Missense 3/38 -
17-58701109-A-C PPM1D c.700A>C p.S234R Missense 2/6 -
7-152027800-T-A KMT2C c.275A>T p.E92V Missense 3/59 -
8-38287343-T-C FGFR1 c.215A>G p.Q72R Missense 3/18 -
X-70587402-TCACTGA-T TAF1 c.234_239delCACTGA p.T59_E60del InFrameDeletion 2/38 -
2-158617423-C-A ACVR1 c.1233G>T p.L411F Missense 9/11 -
17-16001716-G-C NCOR1 c.2785C>G p.Q929E Missense 21/46 -
18-60985688-G-GGCC BCL2 c.211_212insGGC p.S70_P71insR InFrameInsertion 2/3 -
5-176562379-A-T NSD1 c.275A>T p.D92V Missense 2/23 -
X-32716072-G-A DMD c.875C>T p.P292L Missense 9/79 -
21-33044181-TTGAAC-T SCAF4 c.2970_2974delGTTCA p.N992Rfs*2 Frameshift 20/20 -
19-1430253-G-GGC DAZAP1 c.763_764insGC p.A255Gfs*81 Frameshift 10/12 -
3-30713130-AAT-A TGFBR2 c.459_460delTA p.Y153* Frameshift 4/7 -
6-31323337-TG-T HLA-B c.651delC p.I218Sfs*8 Frameshift 4/8 -
16-68857316-AT-A CDH1 c.1955delT p.L652* Frameshift 13/16 -
6-29911270-A-AC HLA-A c.569_570insC p.E190Dfs*31 Frameshift 3/8 -
2-48026678-AG-A MSH6 c.1559delG p.G520Vfs*51 Frameshift 4/10 -
8-55372092-G-GC SOX17 c.788_788dup p.E264Gfs*101 Frameshift 2/2 -
9-133760086-AG-A ABL1 c.2409delG p.E803Dfs*11 Frameshift 11/11 -
5-112136995-CA-C APC c.749delA p.H250Lfs*43 Frameshift 8/16 -
5-56111872-GC-G MAP3K1 c.477delC p.A160Pfs*25 Frameshift 1/20 -
6-36651971-C-A CDKN1A c.93C>A p.S31R Missense 2/3 -
3-52588797-GC-G PBRM1 c.4230delG p.P1411Lfs*21 Frameshift 27/30 -
2-43452259-G-GC ZFP36L2 c.683_683dup p.A229Rfs*245 Frameshift 2/2 -
17-37884037-C-G ERBB2 c.3508C>G p.P1170A Missense 27/27 -
5-112116592-C-T APC c.637C>T p.R213* Nonsense 6/16 -
12-25398279-C-T KRAS c.40G>A p.V14I Missense 2/5 -
5-176637240-G-T NSD1 c.1840G>T p.V614L Missense 5/23 -
3-37053590-G-A MLH1 c.677G>A p.R226Q Missense 8/19 -
5-176637576-T-C NSD1 c.2176T>C p.S726P Missense 5/23 -
5-112151204-C-T APC c.847C>T p.R283* Nonsense 9/16 -
5-112175216-G-T APC c.3925G>T p.E1309* Nonsense 16/16 -
3-12645699-G-A RAF1 c.770C>T p.S257L Missense 7/17 -
16-72993831-A-C ZFHX3 c.214T>G p.S72A Missense 2/10 -
16-72991715-A-G ZFHX3 c.2330T>C p.V777A Missense 2/10 -
5-67588148-G-A PIK3R1 c.978G>A p.M326I Missense 8/16 -
16-72992667-C-G ZFHX3 c.1378G>C p.E460Q Missense 2/10 -
19-1223125-C-G STK11 c.1062C>G p.F354L Missense 8/10 -
18-60985773-C-T BCL2 c.127G>A p.A43T Missense 2/3 -
14-38061742-C-T FOXA1 c.247G>A p.A83T Missense 2/2 -
4-187629770-A-C FAT1 c.1212T>G p.S404R Missense 2/27 -
17-29496986-A-T NF1 c.557A>T p.D186V Missense 5/58 -
2-21231524-G-A APOB c.8216C>T p.P2739L Missense 26/29 -
2-21250914-G-A APOB c.1853C>T p.A618V Missense 14/29 -
7-6026988-G-A PMS2 c.1408C>T p.P470S Missense 11/15 -
22-36684354-T-C MYH9 c.4876A>G p.I1626V Missense 34/41 -
5-112175423-C-T APC c.4132C>T p.Q1378* Nonsense 16/16 -
17-7577096-T-C TP53 c.842A>G p.D281G Missense 8/11 -
17-7578541-A-T TP53 c.389T>A p.L130H Missense 5/11 -
7-55227953-A-G EGFR c.1420A>G p.T474A Missense 12/28 -
2-29416366-G-C ALK c.4587C>G p.D1529E Missense 29/29 -
17-7579705-C-T TP53 c.91G>A p.V31I Missense 3/11 -
12-49434235-C-T KMT2D c.7318G>A p.V2440I Missense 32/55 -
12-49434999-A-G KMT2D c.6554T>C p.L2185P Missense 32/55 -
4-1803246-C-T FGFR3 c.598C>T p.R200C Missense 5/18 -
4-1803601-C-T FGFR3 c.779C>T p.P260L Missense 7/18 -
22-36700168-G-A MYH9 c.2263C>T p.R755C Missense 19/41 -
12-49436060-G-A KMT2D c.5921C>T p.T1974M Missense 29/55 -
22-36692946-G-A MYH9 c.3215C>T p.A1072V Missense 25/41 -
22-36745241-T-C MYH9 c.41A>G p.K14R Missense 2/41 -
5-56177443-G-A MAP3K1 c.2416G>A p.D806N Missense 14/20 -
6-161519350-CCTG-C MAP3K4 c.3596_3598delCTG p.A1199del InFrameDeletion 17/27 -
3-178952076-A-G PIK3CA c.3131A>G p.N1044S Missense 21/21 -
X-153596212-G-A FLNA c.620C>T p.P207L Missense 3/48 -
17-7578524-G-C TP53 c.406C>G p.Q136E Missense 5/11 -
4-106196951-A-G TET2 c.5284A>G p.I1762V Missense 11/11 -
6-37139063-G-A PIM1 c.403G>A p.E135K Missense 4/6 -
2-21260084-G-A APOB c.581C>T p.T194M Missense 6/29 -
7-151932961-G-A KMT2C c.2710C>T p.R904* Nonsense 16/59 -
5-35861068-T-C IL7R c.197T>C p.I66T Missense 2/8 -
7-151882672-C-A KMT2C c.5053G>T p.A1685S Missense 34/59 -
7-151962265-C-T KMT2C c.1042G>A p.D348N Missense 8/59 -
7-151970951-C-T KMT2C c.851G>A p.R284Q Missense 7/59 -
18-45395793-C-T SMAD2 c.341G>A p.R114H Missense 4/11 -
17-7578449-C-T TP53 c.481G>A p.A161T Missense 5/11 -
13-72440658-TGCCGCC-T DACH1 c.244_249delGGCGGC - InFrameDeletion 1/11 -
6-29910801-C-A HLA-A c.341C>A p.A114D Missense 2/8 -
9-70863777-G-T CBWD3 c.394G>T p.D132Y Missense 4/15 -
4-187630590-G-A FAT1 c.392C>T p.A131V Missense 2/27 -
6-29910716-C-G HLA-A c.256C>G p.Q86E Missense 2/8 -
6-29910730-T-A HLA-A c.270T>A p.N90K Missense 2/8 -
X-41205855-C-T DDX3X c.1595C>T p.T532M Missense 14/17 -
3-178952086-T-A PIK3CA c.3141T>A p.H1047Q Missense 21/21 -
17-16097870-C-A NCOR1 c.14G>T p.G5V Missense 2/46 -
7-151945225-T-C KMT2C c.2294A>G p.E765G Missense 14/59 -
14-92537354-C-G ATXN3 c.916G>C p.G306R Missense 10/11 -
17-63533904-G-A AXIN2 c.1250C>T p.A417V Missense 6/11 -
6-29911228-A-C HLA-A c.527A>C p.E176A Missense 3/8 -
5-56176548-C-T MAP3K1 c.2098C>T p.Q700* Nonsense 12/20 -
1-158619728-A-C SPTA1 c.3487T>G p.S1163A Missense 25/52 -
11-108117799-G-A ATM c.1010G>A p.R337H Missense 8/63 -
16-68847225-C-T CDH1 c.1147C>T p.Q383* Nonsense 9/16 -
4-187628398-C-G FAT1 c.2584G>C p.V862L Missense 2/27 -
7-151970859-C-T KMT2C c.943G>A p.G315S Missense 7/59 -
7-151970877-G-A KMT2C c.925C>T p.P309S Missense 7/59 -
9-137313594-C-T RXRA c.853C>T p.R285W Missense 6/10 -
5-56177743-G-A MAP3K1 c.2716G>A p.V906I Missense 14/20 -
1-158612236-A-G SPTA1 c.4702T>C p.C1568R Missense 33/52 -
4-55561758-G-A KIT c.148G>A p.V50M Missense 2/21 -
3-178948044-A-G PIK3CA c.2816A>G p.D939G Missense 20/21 -
6-29910750-C-T HLA-A c.290C>T p.T97I Missense 2/8 -
6-29910742-G-C HLA-A c.282G>C p.Q94H Missense 2/8 -
7-151945334-T-C KMT2C c.2185A>G p.N729D Missense 14/59 -
6-29911203-A-C HLA-A c.502A>C p.K168Q Missense 3/8 -
7-151945204-G-A KMT2C c.2315C>T p.S772L Missense 14/59 -
7-151970859-C-A KMT2C c.943G>T p.G315C Missense 7/59 -
6-29910557-T-A HLA-A c.97T>A p.F33I Missense 2/8 -
1-120572547-T-C NOTCH2 c.137A>G p.N46S Missense 2/34 -
7-151945071-G-GT KMT2C c.2447_2447dup p.Y816* Nonsense 14/59 -
17-56448297-C-T RNF43 c.350G>A p.R117H Missense 3/10 -
6-29910558-T-C HLA-A c.98T>C p.F33S Missense 2/8 -
4-187542755-T-C FAT1 c.4985A>G p.N1662S Missense 10/27 -
4-187509861-G-C FAT1 c.13652C>G p.A4551G Missense 27/27 -
7-6026775-T-C PMS2 c.1621A>G p.K541E Missense 11/15 -
13-28624294-G-A FLT3 c.680C>T p.T227M Missense 6/24 -
14-92537387-T-G ATXN3 c.883A>C p.K295Q Missense 10/11 -
12-14587301-A-G ATF7IP c.1589A>G p.K530R Missense 3/15 -
4-187525020-A-C FAT1 c.10660T>G p.S3554A Missense 19/27 -
14-103342049-T-C TRAF3 c.386T>C p.M129T Missense 5/12 -
14-92548785-C-T ATXN3 c.634G>A p.V212M Missense 8/11 -
14-21899631-C-T CHD8 c.172G>A p.V58M Missense 2/38 -
7-151949068-C-G KMT2C c.1577G>C p.R526P Missense 11/59 -
6-31323337-T-C HLA-B c.652A>G p.I218V Missense 4/8 -
6-1313952-A-G FOXQ1 c.1013A>G p.E338G Missense 1/1 -
19-622336-T-G POLRMT c.1664A>C p.E555A Missense 9/21 -
4-187629538-C-T FAT1 c.1444G>A p.V482I Missense 2/27 -
6-26056604-G-A H1-2 c.53C>T p.A18V Missense 1/1 -
4-187538942-T-G FAT1 c.8798A>C p.Q2933P Missense 10/27 -
17-44109474-G-A KANSL1 c.3029C>T p.P1010L Missense 14/15 -
6-31324536-T-G HLA-B c.272A>C p.Y91S Missense 2/8 -
1-120572572-C-T NOTCH2 c.112G>A p.E38K Missense 2/34 -
4-106155751-G-A TET2 c.652G>A p.V218M Missense 3/11 -
18-42532693-C-A SETBP1 c.3388C>A p.P1130T Missense 4/6 -
7-151932916-C-G KMT2C c.2755G>C p.V919L Missense 16/59 -
4-187627792-T-C FAT1 c.3190A>G p.R1064G Missense 2/27 -
4-187531022-A-G FAT1 c.10001T>C p.V3334A Missense 15/27 -
2-21266774-GGCAGCGCCA-G APOB c.35_43delTGGCGCTGC p.L12_L14del InFrameDeletion 1/29 -
4-187629140-G-C FAT1 c.1842C>G p.F614L Missense 2/27 -
5-56177848-TCAA-T MAP3K1 c.2845_2847delACA p.T949del InFrameDeletion 14/20 -
1-120611960-C-T NOTCH2 c.61G>A p.A21T Missense 1/34 -
6-29910725-C-G HLA-A c.265C>G p.R89G Missense 2/8 -
18-42532606-G-A SETBP1 c.3301G>A p.V1101I Missense 4/6 -
16-72831357-CTTG-C ZFHX3 c.5221_5223delCAA p.Q1741del InFrameDeletion 9/10 -
6-29910340-A-G HLA-A c.10A>G p.M4V Missense 1/8 -
16-72821618-ACCG-A ZFHX3 c.10554_10556delCGG p.G3527del InFrameDeletion 10/10 -
6-31324506-C-T HLA-B c.302G>A p.S101N Missense 2/8 -
12-31944778-T-C H3-5 c.323A>G p.N108S Missense 1/1 -
6-31324154-G-A HLA-B c.409C>T p.H137Y Missense 3/8 -
4-187540635-T-G FAT1 c.7105A>C p.T2369P Missense 10/27 -
4-187540918-G-C FAT1 c.6822C>G p.D2274E Missense 10/27 -
4-187549428-C-T FAT1 c.4690G>A p.A1564T Missense 9/27 -
7-151859683-G-A KMT2C c.10979C>T p.S3660L Missense 43/59 -
4-55575594-G-A KIT c.1120G>A p.V374I Missense 7/21 -
14-92537396-G-GCTGCTGCTGC ATXN3 c.873_874insGCAGCAGCAG p.Q292Afs*29 SpliceAcceptorInsertion 10/11 -
9-139405111-G-A NOTCH1 c.2734C>T p.R912W Missense 17/34 -
6-161494597-G-A MAP3K4 c.2050G>A p.D684N Missense 5/27 -
3-121229066-T-C POLQ c.1636A>G p.T546A Missense 11/30 -
18-42643270-G-T SETBP1 c.4398G>T p.E1466D Missense 6/6 -
19-13319691-G-GGGT CACNA1A c.6658_6659insACC p.H2219dup InFrameInsertion 46/47 -
7-151945256-G-A KMT2C c.2263C>T p.Q755* Nonsense 14/59 -
13-33344896-AT-TG PDS5B c.4169_4170delATinsTG p.N1390M Missense 33/35 -
17-58740630-A-T PPM1D c.1535A>T p.N512I Missense 6/6 -
2-70315174-T-A PCBP1 c.299T>A p.L100Q Missense 1/1 -
5-112164663-T-TA APC c.1738_1738dupA p.E582Gfs*20 SpliceDonorInsertion 14/16 -
12-6700659-G-A CHD4 c.3313C>T p.R1105W Missense 22/40 -
7-151932997-C-T KMT2C c.2674G>A p.G892R Missense 16/59 -
7-151932945-C-T KMT2C c.2726G>A p.R909K Missense 16/59 -
5-112175468-CT-C APC c.4179delT p.D1394Ifs*21 Frameshift 16/16 -
21-36164605-A-G RUNX1 c.1270T>C p.S424P Missense 9/9 -
16-3781323-AAGG-A CREBBP c.5039_5041delCCT p.S1680del InFrameDeletion 30/31 -
17-7579314-T-C TP53 c.373A>G p.T125A Missense 4/11 -
17-16068377-C-G NCOR1 c.534G>C p.K178N Missense 5/46 -
6-152415657-C-T ESR1 c.1507C>T p.R503W Missense 7/8 -
7-151962290-C-G KMT2C c.1017G>C p.K339N Missense 8/59 -
1-27087443-C-T ARID1A c.2017C>T p.Q673* Nonsense 5/20 -
16-2138118-G-A TSC2 c.5138G>A p.R1713H Missense 40/42 -
2-46609572-A-C EPAS1 c.2296A>C p.T766P Missense 15/16 -
7-151935853-T-C KMT2C c.2591A>G p.E864G Missense 15/59 -
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 -
7-2968245-C-T CARD11 c.1741G>A p.A581T Missense 13/25 -
18-48593466-C-T SMAD4 c.1217C>T p.A406V Missense 10/12 -
3-178916933-A-G PIK3CA c.320A>G p.N107S Missense 2/21 -
18-48584527-A-C SMAD4 c.700A>C p.S234R Missense 6/12 -
7-151962126-C-T KMT2C c.1181G>A p.C394Y Missense 8/59 -
10-89711895-G-T PTEN c.513G>T p.Q171H Missense 6/9 -
12-133256105-C-T POLE c.556G>A p.A186T Missense 6/49 -
4-106197365-G-A TET2 c.5698G>A p.V1900I Missense 11/11 -
5-112174026-T-A APC c.2735T>A p.L912* Nonsense 16/16 -
1-27100914-A-G ARID1A c.4196A>G p.Q1399R Missense 18/20 -
1-27057936-GC-G ARID1A c.1650delC p.Y551Tfs*68 Frameshift 3/20 -
2-148657040-GA-G ACVR2A c.285delA p.D96Tfs*54 Frameshift 3/11 -
5-112179035-GA-G APC c.7749delA p.A2584Qfs*9 Frameshift 16/16 -
19-1434835-G-C DAZAP1 c.1148G>C p.G383A Missense 12/12 -
17-7216092-G-A GPS2 c.967C>T p.R323* Nonsense 11/11 -
14-92537354-C-CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG ATXN3 c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG p.Q296_Q305dup InFrameInsertion 10/11 -
17-7216143-T-C GPS2 c.916A>G p.T306A Missense 11/11 -
1-158597507-G-C SPTA1 c.5572C>G p.L1858V Missense 40/52 -
4-1980558-G-GC NSD2 c.4028_4028dup p.E1344Rfs*91 Frameshift 22/22 -
17-41246418-C-T BRCA1 c.1130G>A p.S377N Missense 10/23 -
17-56435160-A-AC RNF43 c.1976_1976dupG p.P660Sfs*87 Frameshift 9/10 -
17-37881117-C-T ERBB2 c.2446C>T p.R816C Missense 20/27 -
12-133257806-G-A POLE c.122C>T p.T41M Missense 2/49 -
12-25398243-T-A KRAS c.76A>T p.N26Y Missense 2/5 -
6-26056286-C-G H1-2 c.371G>C p.G124A Missense 1/1 -
X-53407978-A-C SMC1A c.3468T>G p.D1156E Missense 23/25 -
16-72828867-T-C ZFHX3 c.7714A>G p.M2572V Missense 9/10 -
14-21869061-C-A CHD8 c.4343G>T p.R1448L Missense 22/38 -
1-27056151-C-T ARID1A c.1147C>T p.P383S Missense 2/20 -