17-7577570-C-A |
TP53 |
c.711G>T |
p.M237I |
Missense |
7/11 |
- |
7-55259524-T-A |
EGFR |
c.2582T>A |
p.L861Q |
Missense |
21/28 |
- |
7-55242470-T-C |
EGFR |
c.2240T>C |
p.L747S |
Missense |
19/28 |
- |
13-32914814-C-T |
BRCA2 |
c.6322C>T |
p.R2108C |
Missense |
11/27 |
- |
7-55249005-G-T |
EGFR |
c.2303G>T |
p.S768I |
Missense |
20/28 |
- |
17-7577547-C-T |
TP53 |
c.734G>A |
p.G245D |
Missense |
7/11 |
- |
12-25398284-C-G |
KRAS |
c.35G>C |
p.G12A |
Missense |
2/5 |
- |
17-7577534-C-A |
TP53 |
c.747G>T |
p.R249S |
Missense |
7/11 |
- |
17-7577121-G-A |
TP53 |
c.817C>T |
p.R273C |
Missense |
8/11 |
- |
17-7579312-C-T |
TP53 |
c.375G>A |
p.T125= |
Synonymous |
4/11 |
- |
17-7579312-C-A |
TP53 |
c.375G>T |
p.T125= |
Synonymous |
4/11 |
- |
17-7579312-C-G |
TP53 |
c.375G>C |
p.T125= |
Synonymous |
4/11 |
- |
7-55241677-G-A |
EGFR |
c.2125G>A |
p.E709K |
Missense |
18/28 |
- |
5-112174669-C-G |
APC |
c.3378C>G |
p.S1126R |
Missense |
16/16 |
- |
17-7578403-C-A |
TP53 |
c.527G>T |
p.C176F |
Missense |
5/11 |
- |
17-7577539-G-A |
TP53 |
c.742C>T |
p.R248W |
Missense |
7/11 |
- |
7-55241708-G-C |
EGFR |
c.2156G>C |
p.G719A |
Missense |
18/28 |
- |
16-2130243-C-T |
TSC2 |
c.3475C>T |
p.R1159W |
Missense |
30/42 |
- |
13-32906558-T-A |
BRCA2 |
c.943T>A |
p.C315S |
Missense |
10/27 |
- |
19-15298126-G-A |
NOTCH3 |
c.1630C>T |
p.R544C |
Missense |
11/33 |
- |
17-7577548-C-T |
TP53 |
c.733G>A |
p.G245S |
Missense |
7/11 |
- |
17-7577506-C-A |
TP53 |
c.775G>T |
p.D259Y |
Missense |
7/11 |
- |
7-55242465-AGGAATTAAGAGAAGC-A |
EGFR |
c.2235_2249del15 |
p.E746_A750del |
InFrameDeletion |
19/28 |
- |
7-55242466-GGAATTAAGAGAAGCA-G |
EGFR |
c.2236_2250del15 |
p.E746_A750del |
InFrameDeletion |
19/28 |
- |
13-32914277-A-G |
BRCA2 |
c.5785A>G |
p.I1929V |
Missense |
11/27 |
- |
17-7577120-C-A |
TP53 |
c.818G>T |
p.R273L |
Missense |
8/11 |
- |
22-41573672-C-T |
EP300 |
c.5957C>T |
p.P1986L |
Missense |
31/31 |
- |
22-29121242-G-A |
CHEK2 |
c.433C>T |
p.R145W |
Missense |
3/15 |
- |
7-55242467-AATTAAGAGAAGCAAC-A |
EGFR |
c.2240_2254del15 |
p.L747_T751del |
InFrameDeletion |
19/28 |
- |
7-55242470-TTAAGAGAAGCAACATCTC-T |
EGFR |
c.2240_2257del18 |
p.L747_P753delinsS |
MultiAAMissense |
19/28 |
- |
17-7577550-C-T |
TP53 |
c.731G>A |
p.G244D |
Missense |
7/11 |
- |
7-55259434-G-A |
EGFR |
c.2492G>A |
p.R831H |
Missense |
21/28 |
- |
17-7578263-G-A |
TP53 |
c.586C>T |
p.R196* |
Nonsense |
6/11 |
- |
7-116339770-T-G |
MET |
c.632T>G |
p.L211W |
Missense |
2/21 |
- |
6-162206876-A-G |
PRKN |
c.799T>C |
p.Y267H |
Missense |
7/12 |
- |
17-7577106-G-A |
TP53 |
c.832C>T |
p.P278S |
Missense |
8/11 |
- |
17-7577548-C-A |
TP53 |
c.733G>T |
p.G245C |
Missense |
7/11 |
- |
7-55268884-G-A |
EGFR |
c.2950G>A |
p.D984N |
Missense |
25/28 |
- |
11-108098555-A-G |
ATM |
c.125A>G |
p.H42R |
Missense |
3/63 |
- |
12-49434689-C-A |
KMT2D |
c.6864G>T |
p.K2288N |
Missense |
32/55 |
- |
2-48030639-AC-A |
MSH6 |
c.3261delC |
p.F1088Sfs*2 |
Frameshift |
5/10 |
- |
12-49444829-C-A |
KMT2D |
c.2637G>T |
p.E879D |
Missense |
11/55 |
- |
7-81350103-A-C |
HGF |
c.1229T>G |
p.L410R |
Missense |
10/18 |
- |
10-123324028-T-C |
FGFR2 |
c.442A>G |
p.S148G |
Missense |
4/18 |
- |
17-7579705-C-T |
TP53 |
c.91G>A |
p.V31I |
Missense |
3/11 |
- |
19-1221301-CG-C |
STK11 |
c.827delG |
p.G276Afs*11 |
Frameshift |
6/10 |
- |
19-10265416-G-A |
DNMT1 |
c.1678C>T |
p.R560C |
Missense |
21/41 |
- |
12-49425230-G-A |
KMT2D |
c.13258C>T |
p.R4420W |
Missense |
40/55 |
- |
12-49434507-G-A |
KMT2D |
c.7046C>T |
p.P2349L |
Missense |
32/55 |
- |
12-49434517-C-T |
KMT2D |
c.7036G>A |
p.G2346S |
Missense |
32/55 |
- |
12-49446767-C-T |
KMT2D |
c.1043G>A |
p.R348H |
Missense |
9/55 |
- |
12-49446777-G-C |
KMT2D |
c.1033C>G |
p.L345V |
Missense |
9/55 |
- |
12-49426003-C-T |
KMT2D |
c.12485G>A |
p.R4162Q |
Missense |
40/55 |
- |
22-36690220-G-A |
MYH9 |
c.3755C>T |
p.A1252V |
Missense |
28/41 |
- |
12-49427347-C-T |
KMT2D |
c.11141G>A |
p.R3714K |
Missense |
40/55 |
- |
4-1805473-G-A |
FGFR3 |
c.985G>A |
p.V329I |
Missense |
8/18 |
- |
19-10251537-A-C |
DNMT1 |
c.3443T>G |
p.I1148R |
Missense |
32/41 |
- |
7-116339988-A-G |
MET |
c.850A>G |
p.I284V |
Missense |
2/21 |
- |
15-66727455-G-T |
MAP2K1 |
c.171G>T |
p.K57N |
Missense |
2/11 |
- |
10-101595975-G-A |
ABCC2 |
c.3542G>A |
p.R1181Q |
Missense |
25/32 |
- |
7-55249007-G-T |
EGFR |
c.2305G>T |
p.V769L |
Missense |
20/28 |
- |
17-7577551-C-A |
TP53 |
c.730G>T |
p.G244C |
Missense |
7/11 |
- |
17-37868208-C-T |
ERBB2 |
c.929C>T |
p.S310F |
Missense |
8/27 |
- |
10-89685281-C-G |
PTEN |
c.176C>G |
p.S59* |
Nonsense |
3/9 |
- |
7-55249012-C-CGGT |
EGFR |
c.2310_2311insGGT |
p.D770_N771insG |
InFrameInsertion |
20/28 |
- |
7-55242465-GGAATTAAGAGAAGCAAC-AAT |
EGFR |
c.2235_2252delinsAAT |
p.E746_T751delinsI |
MultiAAMissense |
19/28 |
- |
7-55242467-AATTAAGAGAAGCAACATC-T |
EGFR |
c.2237_2255delinsT |
p.E746_S752delinsV |
MultiAAMissense |
19/28 |
- |
6-150001395-G-A |
LATS1 |
c.2209C>T |
p.R737* |
Nonsense |
5/8 |
- |
11-108224493-G-A |
ATM |
c.8672G>A |
p.G2891D |
Missense |
60/63 |
- |
16-23619239-G-A |
PALB2 |
c.3296C>T |
p.T1099M |
Missense |
12/13 |
- |
7-142460750-G-C |
PRSS1 |
c.623G>C |
p.G208A |
Missense |
5/5 |
- |
17-7578454-G-T |
TP53 |
c.476C>A |
p.A159D |
Missense |
5/11 |
- |
6-37139063-G-A |
PIM1 |
c.403G>A |
p.E135K |
Missense |
4/6 |
- |
3-47098379-C-T |
SETD2 |
c.6895G>A |
p.G2299R |
Missense |
15/21 |
- |
5-44388714-AAGC-A |
FGF10 |
c.68_70delGCT |
p.C23del |
InFrameDeletion |
1/3 |
- |
3-47103754-GTC-G |
SETD2 |
c.6190_6191delGA |
p.D2064Pfs*8 |
Frameshift |
14/21 |
- |
17-56435160-AC-A |
RNF43 |
c.1976delG |
p.G659Vfs*41 |
Frameshift |
9/10 |
- |
20-31023472-A-G |
ASXL1 |
c.2957A>G |
p.N986S |
Missense |
13/13 |
- |
13-29012441-C-T |
FLT1 |
c.430G>A |
p.E144K |
Missense |
4/30 |
- |
17-7577018-C-A |
TP53 |
c.919+1G>T |
- |
IntronicSNV |
- |
8/10 |
16-67063336-G-A |
CBFB |
c.26G>A |
p.R9K |
Missense |
1/6 |
- |
5-131931451-TA-T |
RAD50 |
c.2165delA |
p.K722Rfs*14 |
Frameshift |
13/25 |
- |
10-96702012-G-A |
CYP2C9 |
c.395G>A |
p.R132Q |
Missense |
3/9 |
- |
1-27105700-C-T |
ARID1A |
c.5311C>T |
p.P1771S |
Missense |
20/20 |
- |
1-156851285-C-T |
NTRK1 |
c.2242C>T |
p.R748W |
Missense |
17/17 |
- |
5-56178098-A-G |
MAP3K1 |
c.3071A>G |
p.K1024R |
Missense |
14/20 |
- |
19-11138550-C-G |
SMARCA4 |
c.3306C>G |
p.F1102L |
Missense |
24/35 |
- |
17-7577569-A-G |
TP53 |
c.712T>C |
p.C238R |
Missense |
7/11 |
- |
17-7577099-C-A |
TP53 |
c.839G>T |
p.R280I |
Missense |
8/11 |
- |
17-7578177-C-A |
TP53 |
c.672G>T |
p.E224D |
Missense |
6/11 |
- |
2-128046943-CTCT-C |
ERCC3 |
c.789_791delAGA |
p.E264del |
InFrameDeletion |
6/15 |
- |
11-108098605-G-T |
ATM |
c.175G>T |
p.A59S |
Missense |
3/63 |
- |
8-41798419-GCTC-G |
KAT6A |
c.2977_2979delGAG |
p.E993del |
InFrameDeletion |
15/17 |
- |
8-128750604-CCAG-C |
MYC |
c.154_156delCAG |
p.Q52del |
InFrameDeletion |
2/3 |
- |
2-203395591-G-A |
BMPR2 |
c.1042G>A |
p.V348I |
Missense |
8/13 |
- |
1-46546408-G-A |
PIK3R3 |
c.121C>T |
p.P41S |
Missense |
2/10 |
- |
22-29885580-AAGGCCAAGTCCCCAGAGAAGGAAG-A |
NEFH |
c.1965_1988del24 |
p.E658_K665del |
InFrameDeletion |
4/4 |
- |
6-106536272-A-T |
PRDM1 |
c.239A>T |
p.E80V |
Missense |
2/7 |
- |
3-73114232-C-T |
PPP4R2 |
c.868C>T |
p.R290C |
Missense |
8/9 |
- |
10-43610089-C-G |
RET |
c.2041C>G |
p.Q681E |
Missense |
11/20 |
- |
20-46279836-ACAG-A |
NCOA3 |
c.3789_3791delGCA |
p.Q1276del |
InFrameDeletion |
20/23 |
- |
2-29416380-T-C |
ALK |
c.4573A>G |
p.K1525E |
Missense |
29/29 |
- |
16-89838136-T-C |
FANCA |
c.2101A>G |
p.K701E |
Missense |
23/43 |
- |
10-76781905-GGAA-G |
KAT6B |
c.3310_3312delGAA |
p.E1104del |
InFrameDeletion |
16/18 |
- |
2-29449820-G-A |
ALK |
c.3035C>T |
p.T1012M |
Missense |
18/29 |
- |
6-32548032-T-G |
HLA-DRB1 |
c.779A>C |
p.Q260P |
Missense |
5/6 |
- |
17-29653227-A-G |
NF1 |
c.5225A>G |
p.N1742S |
Missense |
37/58 |
- |
5-149512332-G-A |
PDGFRB |
c.1108C>T |
p.R370C |
Missense |
7/23 |
- |
7-151842355-T-C |
KMT2C |
c.14057A>G |
p.N4686S |
Missense |
54/59 |
- |
7-55259442-G-T |
EGFR |
c.2500G>T |
p.V834L |
Missense |
21/28 |
- |
16-2218138-C-G |
TRAF7 |
c.200C>G |
p.A67G |
Missense |
4/21 |
- |
19-41727077-C-T |
AXL |
c.335C>T |
p.T112M |
Missense |
3/20 |
- |
17-29559887-A-G |
NF1 |
c.3484A>G |
p.M1162V |
Missense |
26/58 |
- |
17-38567951-C-T |
TOP2A |
c.909G>A |
p.M303I |
Missense |
8/35 |
- |
17-29553484-C-T |
NF1 |
c.2033C>T |
p.P678L |
Missense |
18/58 |
- |
2-209113119-T-C |
IDH1 |
c.388A>G |
p.I130V |
Missense |
4/10 |
- |
1-162731077-G-A |
DDR2 |
c.932G>A |
p.S311N |
Missense |
9/18 |
- |
16-23646208-G-T |
PALB2 |
c.1659C>A |
p.H553Q |
Missense |
4/13 |
- |
12-133256117-G-A |
POLE |
c.544C>T |
p.H182Y |
Missense |
6/49 |
- |
16-23649269-G-A |
PALB2 |
c.113C>T |
p.A38V |
Missense |
3/13 |
- |
1-156845315-C-T |
NTRK1 |
c.1358C>T |
p.P453L |
Missense |
12/17 |
- |
12-56487317-G-A |
ERBB3 |
c.1463G>A |
p.R488Q |
Missense |
12/28 |
- |
16-3900336-C-T |
CREBBP |
c.760G>A |
p.A254T |
Missense |
2/31 |
- |
7-55259560-G-A |
EGFR |
c.2618G>A |
p.G873E |
Missense |
21/28 |
- |
3-47163843-C-T |
SETD2 |
c.2283G>A |
p.M761I |
Missense |
3/21 |
- |
13-32929042-C-G |
BRCA2 |
c.7052C>G |
p.A2351G |
Missense |
14/27 |
- |
16-2220713-CGAG-C |
TRAF7 |
c.343_345delGAG |
p.E115del |
InFrameDeletion |
5/21 |
- |
9-101909965-T-C |
TGFBR1 |
c.1285T>C |
p.Y429H |
Missense |
8/9 |
- |
8-90965508-G-T |
NBN |
c.1809C>A |
p.F603L |
Missense |
11/16 |
- |
11-108098564-G-A |
ATM |
c.134G>A |
p.R45Q |
Missense |
3/63 |
- |
13-32907183-A-G |
BRCA2 |
c.1568A>G |
p.H523R |
Missense |
10/27 |
- |
22-29091846-G-A |
CHEK2 |
c.1111C>T |
p.H371Y |
Missense |
11/15 |
- |
22-29083920-T-C |
CHEK2 |
c.1597A>G |
p.T533A |
Missense |
15/15 |
- |
22-29090043-C-T |
CHEK2 |
c.1438G>A |
p.A480T |
Missense |
13/15 |
- |
1-11272529-G-A |
MTOR |
c.3401C>T |
p.A1134V |
Missense |
23/58 |
- |
16-23646813-C-G |
PALB2 |
c.1054G>C |
p.E352Q |
Missense |
4/13 |
- |
11-119156088-C-T |
CBL |
c.1753C>T |
p.R585C |
Missense |
11/16 |
- |
17-7578496-A-T |
TP53 |
c.434T>A |
p.L145Q |
Missense |
5/11 |
- |
3-37053562-C-T |
MLH1 |
c.649C>T |
p.R217C |
Missense |
8/19 |
- |
17-41244585-G-A |
BRCA1 |
c.2963C>T |
p.S988L |
Missense |
10/23 |
- |
7-41729740-TTTC-T |
INHBA |
c.786_788delGAA |
p.K263del |
InFrameDeletion |
3/3 |
- |
3-37089020-C-T |
MLH1 |
c.1742C>T |
p.P581L |
Missense |
16/19 |
- |
2-47637371-A-G |
MSH2 |
c.505A>G |
p.I169V |
Missense |
3/16 |
- |
2-47698132-A-G |
MSH2 |
c.1690A>G |
p.T564A |
Missense |
11/16 |
- |
2-47705625-G-A |
MSH2 |
c.2425G>A |
p.E809K |
Missense |
14/16 |
- |
11-61205535-G-A |
SDHAF2 |
c.320G>A |
p.R107H |
Missense |
3/4 |
- |
3-49723321-AGCGCTG-A |
MST1 |
c.1216_1221delCAGCGC |
p.Q406_R407del |
InFrameDeletion |
10/18 |
- |
19-1220707-G-T |
STK11 |
c.725G>T |
p.G242V |
Missense |
5/10 |
- |
9-80537095-G-T |
GNAQ |
c.303C>A |
p.Y101* |
Nonsense |
2/7 |
- |
11-119149377-G-A |
CBL |
c.1385G>A |
p.R462Q |
Missense |
9/16 |
- |
1-226595617-G-C |
PARP1 |
c.14C>G |
p.S5W |
Missense |
1/23 |
- |
X-66765161-A-T |
AR |
c.173A>T |
p.Q58L |
Missense |
1/8 |
- |
6-26056053-C-T |
H1-2 |
c.604G>A |
p.V202I |
Missense |
1/1 |
- |
2-48026217-G-T |
MSH6 |
c.1095G>T |
p.W365C |
Missense |
4/10 |
- |
19-11141507-G-T |
SMARCA4 |
c.3484G>T |
p.G1162C |
Missense |
25/35 |
- |
17-40379552-G-A |
STAT5B |
c.280C>T |
p.L94F |
Missense |
3/19 |
- |
9-139396503-C-T |
NOTCH1 |
c.5422G>A |
p.D1808N |
Missense |
29/34 |
- |
2-212495294-T-A |
ERBB4 |
c.1972A>T |
p.I658F |
Missense |
17/28 |
- |
7-151874147-CT-C |
KMT2C |
c.8390delA |
p.K2797Rfs*26 |
Frameshift |
38/59 |
- |
5-176518103-C-T |
FGFR4 |
c.601C>T |
p.R201W |
Missense |
5/18 |
- |
3-30691871-G-GA |
TGFBR2 |
c.383_383dupA |
p.P129Afs*3 |
Frameshift |
3/7 |
- |
19-4090636-C-T |
MAP2K2 |
c.1163G>A |
p.R388Q |
Missense |
11/11 |
- |
19-1207064-TG-T |
STK11 |
c.157delG |
p.D53Tfs*11 |
Frameshift |
1/10 |
- |
15-93545433-G-GA |
CHD2 |
c.4173_4173dupA |
p.Q1392Tfs*17 |
Frameshift |
33/39 |
- |
5-180045911-G-A |
FLT4 |
c.2860C>T |
p.P954S |
Missense |
21/30 |
- |
19-1207054-A-T |
STK11 |
c.142A>T |
p.K48* |
Nonsense |
1/10 |
- |
2-209113210-T-C |
IDH1 |
c.297A>G |
p.I99M |
Missense |
4/10 |
- |
2-48033920-A-C |
MSH6 |
c.4004A>C |
p.E1335A |
Missense |
10/10 |
- |
19-1220715-C-T |
STK11 |
c.733C>T |
p.L245F |
Missense |
5/10 |
- |
3-189607233-A-G |
TP63 |
c.1612A>G |
p.T538A |
Missense |
12/14 |
- |
1-85736510-AT-A |
BCL10 |
c.136delA |
p.I46Yfs*24 |
Frameshift |
2/3 |
- |
9-21968732-G-A |
CDKN2A |
c.458-491C>T |
- |
IntronicSNV |
- |
2/2 |
17-41243952-G-A |
BRCA1 |
c.3596C>T |
p.A1199V |
Missense |
10/23 |
- |
3-134968200-C-T |
EPHB1 |
c.2713C>T |
p.R905C |
Missense |
15/16 |
- |
9-98231061-G-A |
PTCH1 |
c.2222C>T |
p.A741V |
Missense |
14/24 |
- |
16-16276741-G-A |
ABCC6 |
c.1990C>T |
p.P664S |
Missense |
16/31 |
- |
19-17942173-G-A |
JAK3 |
c.2842C>T |
p.R948C |
Missense |
21/24 |
- |
17-33428027-A-T |
RAD51D |
c.932T>A |
p.I311N |
Missense |
10/10 |
- |
14-81563048-C-T |
TSHR |
c.611C>T |
p.A204V |
Missense |
7/10 |
- |
17-37864776-G-A |
ERBB2 |
c.428G>A |
p.R143Q |
Missense |
3/27 |
- |
15-88799324-C-A |
NTRK3 |
c.61G>T |
p.V21F |
Missense |
3/20 |
- |
17-7579882-C-T |
TP53 |
c.31G>A |
p.E11K |
Missense |
2/11 |
- |
2-203421006-G-A |
BMPR2 |
c.2618G>A |
p.R873Q |
Missense |
12/13 |
- |
6-106554373-A-G |
PRDM1 |
c.1901A>G |
p.Q634R |
Missense |
6/7 |
- |
16-341266-C-T |
AXIN1 |
c.2218G>A |
p.A740T |
Missense |
9/11 |
- |
6-134583262-T-A |
SGK1 |
c.94A>T |
p.M32L |
Missense |
2/14 |
- |
17-33428245-G-A |
RAD51D |
c.878C>T |
p.A293V |
Missense |
9/10 |
- |
17-59924502-T-C |
BRIP1 |
c.587A>G |
p.N196S |
Missense |
6/20 |
- |
17-59878736-G-A |
BRIP1 |
c.1018C>T |
p.L340F |
Missense |
8/20 |
- |
17-59870989-C-T |
BRIP1 |
c.1442G>A |
p.G481D |
Missense |
10/20 |
- |
7-6017269-G-A |
PMS2 |
c.2395C>T |
p.R799W |
Missense |
14/15 |
- |
20-54961562-G-A |
AURKA |
c.70C>T |
p.R24C |
Missense |
3/9 |
- |
1-36941179-G-C |
CSF3R |
c.160C>G |
p.H54D |
Missense |
4/17 |
- |
X-76931741-GTCA-G |
ATRX |
c.3786_3788delTGA |
p.D1264del |
InFrameDeletion |
10/35 |
- |
12-21628620-T-C |
RECQL |
c.1088A>G |
p.N363S |
Missense |
9/15 |
- |
12-21626550-T-C |
RECQL |
c.1382A>G |
p.H461R |
Missense |
12/15 |
- |
19-15281582-A-T |
NOTCH3 |
c.4791T>A |
p.N1597K |
Missense |
26/33 |
- |
11-125503112-G-A |
CHEK1 |
c.479G>A |
p.R160H |
Missense |
6/13 |
- |
17-7578218-T-G |
TP53 |
c.631A>C |
p.T211P |
Missense |
6/11 |
- |
17-46804175-C-A |
HOXB13 |
c.832G>T |
p.V278L |
Missense |
2/2 |
- |
16-23641001-C-G |
PALB2 |
c.2474G>C |
p.R825T |
Missense |
5/13 |
- |
5-112151233-G-C |
APC |
c.876G>C |
p.L292F |
Missense |
9/16 |
- |
19-13054393-G-A |
CALR |
c.1003G>A |
p.D335N |
Missense |
8/9 |
- |
14-81606063-G-A |
TSHR |
c.733G>A |
p.G245S |
Missense |
9/10 |
- |
12-133240977-C-T |
POLE |
c.2540G>A |
p.R847Q |
Missense |
22/49 |
- |
4-187584610-C-G |
FAT1 |
c.3423G>C |
p.E1141D |
Missense |
3/27 |
- |
9-98224163-C-T |
PTCH1 |
c.2678G>A |
p.R893H |
Missense |
16/24 |
- |
19-17945798-T-A |
JAK3 |
c.2062A>T |
p.I688F |
Missense |
16/24 |
- |
10-63850704-G-GA |
ARID5B |
c.1489_1489dupA |
p.I497Nfs*31 |
Frameshift |
10/10 |
- |
3-37070322-C-T |
MLH1 |
c.1457C>T |
p.S486F |
Missense |
13/19 |
- |
16-9858774-A-G |
GRIN2A |
c.2627T>C |
p.I876T |
Missense |
13/13 |
- |
17-37884176-C-A |
ERBB2 |
c.3647C>A |
p.A1216D |
Missense |
27/27 |
- |
15-41797609-C-T |
LTK |
c.1817G>A |
p.R606Q |
Missense |
14/20 |
- |
6-112386180-C-CA |
CCN6 |
c.624_624dupA |
p.S191Kfs*9 |
Frameshift |
3/5 |
- |
12-121432117-G-GC |
HNF1A |
c.872dupC |
p.G292Rfs*25 |
Frameshift |
4/10 |
- |
5-79970914-CA-C |
MSH3 |
c.1148delA |
p.K383Rfs*32 |
Frameshift |
7/24 |
- |
15-91304138-G-GA |
BLM |
c.1544_1544dupA |
p.N515Kfs*2 |
Frameshift |
7/22 |
- |
5-131931451-T-TA |
RAD50 |
c.2157_2157dupA |
p.E723Gfs*5 |
Frameshift |
13/25 |
- |
2-141473606-G-A |
LRP1B |
c.5959C>T |
p.R1987C |
Missense |
37/91 |
- |
17-70120403-A-G |
SOX9 |
c.1405A>G |
p.M469V |
Missense |
3/3 |
- |
4-55561861-C-T |
KIT |
c.251C>T |
p.T84M |
Missense |
2/21 |
- |
4-1980601-C-T |
NSD2 |
c.4063C>T |
p.R1355W |
Missense |
22/22 |
- |
12-120784045-C-T |
MSI1 |
c.940G>A |
p.G314S |
Missense |
13/15 |
- |
1-40366502-G-A |
MYCL |
c.496+109C>T |
- |
IntronicSNV |
- |
1/1 |
13-41134072-G-A |
FOXO1 |
c.1556C>T |
p.P519L |
Missense |
2/3 |
- |
10-104375107-G-A |
SUFU |
c.1105G>A |
p.V369I |
Missense |
9/12 |
- |
12-58143021-G-A |
CDK4 |
c.763C>T |
p.R255C |
Missense |
7/8 |
- |
15-42058948-G-A |
MGA |
c.8668G>A |
p.V2890I |
Missense |
24/24 |
- |
1-32798325-AAGG-A |
HDAC1 |
c.1402_1404delGAG |
p.E468del |
InFrameDeletion |
13/14 |
- |
15-42058969-A-G |
MGA |
c.8689A>G |
p.I2897V |
Missense |
24/24 |
- |
15-42059392-C-T |
MGA |
c.9112C>T |
p.R3038W |
Missense |
24/24 |
- |
19-50138891-G-A |
RRAS |
c.599C>T |
p.P200L |
Missense |
6/6 |
- |
14-36986635-C-T |
NKX2-1 |
c.1054G>A |
p.G352S |
Missense |
3/3 |
- |
3-149245654-T-G |
WWTR1 |
c.874A>C |
p.T292P |
Missense |
5/7 |
- |
19-11032327-C-T |
CARM1 |
c.1721C>T |
p.T574M |
Missense |
16/16 |
- |
16-9857047-G-A |
GRIN2A |
c.4354C>T |
p.R1452C |
Missense |
13/13 |
- |
17-30326014-A-C |
SUZ12 |
c.2212A>C |
p.K738Q |
Missense |
16/16 |
- |
2-29416431-C-T |
ALK |
c.4522G>A |
p.G1508S |
Missense |
29/29 |
- |
17-37687514-G-A |
CDK12 |
c.4418G>A |
p.R1473Q |
Missense |
14/14 |
- |
22-29885644-C-A |
NEFH |
c.2015C>A |
p.A672E |
Missense |
4/4 |
- |
22-41574794-A-G |
EP300 |
c.7079A>G |
p.E2360G |
Missense |
31/31 |
- |
3-149245702-G-C |
WWTR1 |
c.826C>G |
p.Q276E |
Missense |
5/7 |
- |
19-13054704-G-A |
CALR |
c.1231G>A |
p.G411S |
Missense |
9/9 |
- |
22-29885638-T-A |
NEFH |
c.2009T>A |
p.V670E |
Missense |
4/4 |
- |
22-41574859-A-G |
EP300 |
c.7144A>G |
p.M2382V |
Missense |
31/31 |
- |
2-128016886-A-G |
ERCC3 |
c.2203T>C |
p.S735P |
Missense |
14/15 |
- |
6-152129480-G-A |
ESR1 |
c.433G>A |
p.G145S |
Missense |
1/8 |
- |
4-55161415-C-A |
PDGFRA |
c.3246C>A |
p.D1082E |
Missense |
23/23 |
- |
5-176722419-G-A |
NSD1 |
c.8050G>A |
p.A2684T |
Missense |
23/23 |
- |
8-32621424-G-A |
NRG1 |
c.1427G>A |
p.R476K |
Missense |
12/12 |
- |
5-44305114-T-C |
FGF10 |
c.610A>G |
p.M204V |
Missense |
3/3 |
- |
6-20488470-G-A |
E2F3 |
c.1126G>A |
p.A376T |
Missense |
6/7 |
- |
5-170832369-G-C |
NPM1 |
c.733G>C |
p.E245Q |
Missense |
9/11 |
- |
8-37699715-GAGA-G |
ADGRA2 |
c.3862_3864delAAG |
p.K1288del |
InFrameDeletion |
19/19 |
- |
19-1627417-C-T |
TCF3 |
c.307G>A |
p.G103S |
Missense |
6/19 |
- |
7-100414918-C-T |
EPHB4 |
c.1484G>A |
p.R495Q |
Missense |
8/17 |
- |
5-176638587-A-G |
NSD1 |
c.3187A>G |
p.T1063A |
Missense |
5/23 |
- |
13-103524611-G-GA |
ERCC5 |
c.2751dupA |
p.L918Ifs*12 |
Frameshift |
13/15 |
- |
5-35867500-G-A |
IL7R |
c.314G>A |
p.S105N |
Missense |
3/8 |
- |
11-17741592-A-G |
MYOD1 |
c.263A>G |
p.H88R |
Missense |
1/3 |
- |
14-81609317-T-A |
TSHR |
c.915T>A |
p.S305R |
Missense |
10/10 |
- |
4-55143618-G-A |
PDGFRA |
c.1850G>A |
p.R617Q |
Missense |
13/23 |
- |
1-228612837-G-A |
H3-4 |
c.190C>T |
p.R64C |
Missense |
1/1 |
- |
1-120539661-C-T |
NOTCH2 |
c.710G>A |
p.R237Q |
Missense |
4/34 |
- |
1-228612869-C-T |
HIST3H3 |
c.158G>A |
p.R53H |
Missense |
1/1 |
- |
1-228612939-C-T |
HIST3H3 |
c.88G>A |
p.A30T |
Missense |
1/1 |
- |
1-226553720-T-C |
PARP1 |
c.2440A>G |
p.I814V |
Missense |
18/23 |
- |
4-187549766-G-C |
FAT1 |
c.4475C>G |
p.T1492S |
Missense |
8/27 |
- |
17-7577090-C-A |
TP53 |
c.848G>T |
p.R283L |
Missense |
8/11 |
- |
9-35075738-G-C |
FANCG |
c.1157C>G |
p.P386R |
Missense |
10/14 |
- |
9-35074206-G-C |
FANCG |
c.1768C>G |
p.P590A |
Missense |
14/14 |
- |
5-131911469-G-A |
RAD50 |
c.214G>A |
p.V72I |
Missense |
3/25 |
- |
13-26975608-CCAG-C |
CDK8 |
c.1129_1131delCAG |
p.Q377del |
InFrameDeletion |
12/13 |
- |
15-91298125-G-A |
BLM |
c.1044G>A |
p.M348I |
Missense |
5/22 |
- |
2-25464430-C-T |
DNMT3A |
c.2082+1G>A |
- |
IntronicSNV |
- |
17/22 |
13-32914707-C-T |
BRCA2 |
c.6215C>T |
p.S2072F |
Missense |
11/27 |
- |
19-50905089-T-C |
POLD1 |
c.371T>C |
p.V124A |
Missense |
4/27 |
- |
15-88799237-C-T |
NTRK3 |
c.148G>A |
p.D50N |
Missense |
3/20 |
- |
2-47635594-T-C |
MSH2 |
c.266T>C |
p.V89A |
Missense |
2/16 |
- |
16-2090156-C-T |
NTHL1 |
c.793G>A |
p.A257T |
Missense |
5/6 |
- |
20-52193658-C-T |
ZNF217 |
c.1645G>A |
p.A549T |
Missense |
4/6 |
- |
1-11863038-G-A |
MTHFR |
c.136C>T |
p.R46W |
Missense |
2/12 |
- |
5-37000609-C-T |
NIPBL |
c.3439C>T |
p.R1147* |
Nonsense |
12/47 |
- |
3-10116221-C-T |
FANCD2 |
c.2723C>T |
p.T908I |
Missense |
29/44 |
- |
17-62007646-T-G |
CD79B |
c.218A>C |
p.N73T |
Missense |
3/6 |
- |
6-138202223-C-T |
TNFAIP3 |
c.2140C>T |
p.P714S |
Missense |
9/9 |
- |
16-72832153-C-T |
ZFHX3 |
c.4428G>A |
p.M1476I |
Missense |
9/10 |
- |
5-180048821-C-T |
FLT4 |
c.1741G>A |
p.D581N |
Missense |
13/30 |
- |
22-41546053-A-C |
EP300 |
c.2668A>C |
p.T890P |
Missense |
14/31 |
- |
8-128750631-GC-G |
MYC |
c.173delC |
p.P58Rfs*60 |
Frameshift |
2/3 |
- |
7-148524338-G-A |
EZH2 |
c.646C>T |
p.R216W |
Missense |
7/20 |
- |
7-2979543-C-T |
CARD11 |
c.704G>A |
p.R235Q |
Missense |
6/25 |
- |
10-104597087-G-A |
CYP17A1 |
c.32C>T |
p.T11I |
Missense |
1/8 |
- |
1-241680556-C-T |
FH |
c.193G>A |
p.D65N |
Missense |
2/10 |
- |
5-233687-G-A |
SDHA |
c.991G>A |
p.A331T |
Missense |
8/15 |
- |
4-187541475-C-T |
FAT1 |
c.6265G>A |
p.V2089I |
Missense |
10/27 |
- |
9-135781505-G-C |
TSC1 |
c.1460C>G |
p.S487C |
Missense |
15/23 |
- |
5-131944381-CA-C |
RAD50 |
c.2801delA |
p.N934Ifs*6 |
Frameshift |
17/25 |
- |
16-2138319-G-A |
TSC2 |
c.5252G>A |
p.R1751H |
Missense |
41/42 |
- |
X-76918997-T-C |
ATRX |
c.3994A>G |
p.K1332E |
Missense |
12/35 |
- |
12-21644546-C-CT |
RECQL |
c.120_120dupA |
p.V41Sfs*14 |
Frameshift |
3/15 |
- |
9-128206872-C-T |
MAPKAP1 |
c.1351G>A |
p.A451T |
Missense |
11/12 |
- |
2-190719350-C-T |
PMS1 |
c.1352C>T |
p.T451M |
Missense |
9/13 |
- |
10-8100406-C-A |
GATA3 |
c.380C>A |
p.P127Q |
Missense |
3/6 |
- |
6-106553435-C-T |
PRDM1 |
c.1400C>T |
p.P467L |
Missense |
5/7 |
- |
7-151874709-C-T |
KMT2C |
c.7829G>A |
p.R2610Q |
Missense |
38/59 |
- |
12-123875223-C-T |
KMT5A |
c.179C>T |
p.P60L |
Missense |
3/8 |
- |
7-55227873-C-T |
EGFR |
c.1340C>T |
p.S447F |
Missense |
12/28 |
- |
19-36211133-G-A |
KMT2B |
c.884G>A |
p.R295H |
Missense |
3/37 |
- |
3-178927486-G-C |
PIK3CA |
c.1249G>C |
p.E417Q |
Missense |
7/21 |
- |
2-178095985-C-T |
NFE2L2 |
c.1346G>A |
p.R449H |
Missense |
5/5 |
- |
22-42526720-C-T |
CYP2D6 |
c.74G>A |
p.R25Q |
Missense |
1/9 |
- |
1-158631190-A-C |
SPTA1 |
c.2474T>G |
p.L825R |
Missense |
18/52 |
- |
6-26031885-C-G |
H3C2 |
c.404G>C |
p.R135T |
Missense |
1/1 |
- |
16-72821322-G-T |
ZFHX3 |
c.10853C>A |
p.P3618Q |
Missense |
10/10 |
- |
9-27204923-G-A |
TEK |
c.2224G>A |
p.G742R |
Missense |
14/23 |
- |
17-56440903-C-T |
RNF43 |
c.434G>A |
p.R145Q |
Missense |
4/10 |
- |
2-128051291-T-C |
ERCC3 |
c.32A>G |
p.K11R |
Missense |
2/15 |
- |
6-27839921-G-A |
H3C11 |
c.173C>T |
p.S58L |
Missense |
1/1 |
- |
3-37092035-A-G |
MLH1 |
c.2162A>G |
p.Y721C |
Missense |
19/19 |
- |
8-128751158-C-T |
MYC |
c.695C>T |
p.S232F |
Missense |
2/3 |
- |
2-29519901-C-T |
ALK |
c.1670G>A |
p.R557H |
Missense |
9/29 |
- |
17-78899254-C-T |
RPTOR |
c.2893C>T |
p.R965C |
Missense |
24/34 |
- |
10-89720738-G-T |
PTEN |
c.889G>T |
p.D297Y |
Missense |
8/9 |
- |
5-67569269-C-T |
PIK3R1 |
c.386C>T |
p.P129L |
Missense |
3/16 |
- |
1-45798308-G-A |
MUTYH |
c.544C>T |
p.Q182* |
Nonsense |
8/16 |
- |
7-151877980-A-G |
KMT2C |
c.6965T>C |
p.V2322A |
Missense |
36/59 |
- |
17-7579466-G-A |
TP53 |
c.221C>T |
p.A74V |
Missense |
4/11 |
- |
19-10610685-C-T |
KEAP1 |
c.25G>A |
p.G9R |
Missense |
2/6 |
- |
1-120056870-G-A |
HSD3B1 |
c.724G>A |
p.D242N |
Missense |
4/4 |
- |
22-29095918-C-T |
CHEK2 |
c.916G>A |
p.G306R |
Missense |
9/15 |
- |
X-47045136-C-T |
RBM10 |
c.2377C>T |
p.R793* |
Nonsense |
21/24 |
- |
19-45868176-C-T |
ERCC2 |
c.514G>A |
p.A172T |
Missense |
7/23 |
- |
14-68353784-G-A |
RAD51B |
c.619G>A |
p.V207M |
Missense |
7/11 |
- |
13-29008200-C-T |
FLT1 |
c.671G>A |
p.R224Q |
Missense |
5/30 |
- |
16-72822363-G-A |
ZFHX3 |
c.9812C>T |
p.T3271M |
Missense |
10/10 |
- |
2-141291668-G-A |
LRP1B |
c.7684C>T |
p.R2562C |
Missense |
47/91 |
- |
2-112740556-A-G |
MERTK |
c.1282A>G |
p.S428G |
Missense |
8/19 |
- |
1-16254855-A-G |
SPEN |
c.2120A>G |
p.E707G |
Missense |
11/15 |
- |
5-180058747-CG-C |
FLT4 |
c.89delC |
p.P30Rfs*3 |
Frameshift |
2/30 |
- |
10-63845621-GA-G |
ARID5B |
c.1365delA |
p.E456Kfs*23 |
Frameshift |
9/10 |
- |
1-162749975-C-T |
DDR2 |
c.2507C>T |
p.T836M |
Missense |
18/18 |
- |
11-2154241-TG-T |
IGF2 |
c.518delC |
p.P173Qfs*27 |
Frameshift |
4/4 |
- |
22-23653975-T-TCCGG |
BCR |
c.3275_3278dup |
p.V1094Rfs*17 |
Frameshift |
19/23 |
- |
3-9934760-C-G |
JAGN1 |
c.251C>G |
p.P84R |
Missense |
2/2 |
- |
2-141356360-A-C |
LRP1B |
c.7034T>G |
p.M2345R |
Missense |
43/91 |
- |
7-142651300-A-C |
KEL |
c.895T>G |
p.F299V |
Missense |
8/19 |
- |
19-35832405-T-G |
CD22 |
c.1667T>G |
p.L556R |
Missense |
8/14 |
- |
19-45867709-C-T |
ERCC2 |
c.691G>A |
p.V231M |
Missense |
8/23 |
- |
2-227659803-A-G |
IRS1 |
c.3652T>C |
p.S1218P |
Missense |
1/2 |
- |
13-26975740-TATC-T |
CDK8 |
c.1251_1253delCAT |
p.I417del |
InFrameDeletion |
12/13 |
- |
1-16258026-A-C |
SPEN |
c.5291A>C |
p.Q1764P |
Missense |
11/15 |
- |
17-40854956-G-A |
EZH1 |
c.2122C>T |
p.R708W |
Missense |
20/21 |
- |
19-54649671-CT-C |
CNOT3 |
c.729delT |
p.S245Afs*90 |
Frameshift |
9/18 |
- |
17-40489825-G-A |
STAT3 |
c.601C>T |
p.Q201* |
Nonsense |
7/24 |
- |
19-15290911-C-T |
NOTCH3 |
c.3299G>A |
p.R1100H |
Missense |
20/33 |
- |
16-89357538-C-G |
ANKRD11 |
c.280G>C |
p.A94P |
Missense |
5/13 |
- |
16-23646629-G-T |
PALB2 |
c.1238C>A |
p.T413K |
Missense |
4/13 |
- |
7-2962848-G-A |
CARD11 |
c.2060C>T |
p.A687V |
Missense |
16/25 |
- |
1-156844184-C-T |
NTRK1 |
c.1187C>T |
p.S396L |
Missense |
9/17 |
- |
16-89348713-C-T |
ANKRD11 |
c.4237G>A |
p.E1413K |
Missense |
9/13 |
- |
6-26056289-G-A |
H1-2 |
c.368C>T |
p.A123V |
Missense |
1/1 |
- |
12-133201570-T-C |
POLE |
c.6668A>G |
p.K2223R |
Missense |
48/49 |
- |
16-2103448-G-T |
TSC2 |
c.331G>T |
p.G111W |
Missense |
4/42 |
- |
2-109384469-A-G |
RANBP2 |
c.7474A>G |
p.T2492A |
Missense |
20/29 |
- |
17-33445587-C-T |
RAD51D |
c.196G>A |
p.V66M |
Missense |
3/10 |
- |
6-35423591-C-T |
FANCE |
c.316C>T |
p.R106W |
Missense |
2/10 |
- |
4-20620616-C-T |
SLIT2 |
c.4574C>T |
p.T1525M |
Missense |
37/37 |
- |
2-111881707-A-C |
BCL2L11 |
c.385A>C |
p.S129R |
Missense |
2/4 |
- |
15-38641674-G-A |
SPRED1 |
c.634G>A |
p.V212I |
Missense |
6/7 |
- |
22-24143309-G-A |
SMARCB1 |
c.500+41G>A |
- |
IntronicSNV |
- |
4/8 |
17-15983379-C-G |
NCOR1 |
c.3401-1G>C |
- |
IntronicSNV |
- |
25/45 |
5-121736798-G-T |
SNCAIP |
c.58-2690G>T |
- |
IntronicSNV |
- |
2/10 |
17-7574034-C-G |
TP53 |
c.994-1G>C |
- |
IntronicSNV |
- |
9/10 |
17-7574034-C-T |
TP53 |
c.994-1G>A |
- |
IntronicSNV |
- |
9/10 |
19-11150137-A-G |
SMARCA4 |
c.4171-1846A>G |
- |
IntronicSNV |
- |
29/34 |
17-17124829-G-A |
FLCN |
c.871+22C>T |
- |
IntronicSNV |
- |
8/13 |
17-17124829-G-T |
FLCN |
c.871+22C>A |
- |
IntronicSNV |
- |
8/13 |
3-142278091-A-G |
ATR |
c.1732+2T>C |
- |
IntronicSNV |
- |
7/46 |
19-15299158-AGCCTGGGGCAGGGAATAGGGCTTAGGAAAGCGGGGGCTACCCTATGGTGTGAACGGGGT-A |
NOTCH3 |
c.1372_1380del649 |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
9/33 |
8/32 |
4-106158550-G-T |
TET2 |
c.3409+42G>T |
- |
IntronicSNV |
- |
3/10 |
3-30664732-A-C |
TGFBR2 |
c.94+16263A>C |
- |
IntronicSNV |
- |
1/6 |
6-37138299-C-T |
PIM1 |
c.1-53C>T |
- |
5-UTRSNV |
1/6 |
- |
8-26150763-A-G |
PPP2R2A |
c.8-419A>G |
- |
IntronicSNV |
- |
1/9 |
1-179087721-C-A |
ABL2 |
c.1223+1G>T |
- |
IntronicSNV |
- |
7/11 |
19-1612427-G-A |
TCF3 |
c.1823-579C>T |
- |
IntronicSNV |
- |
18/18 |
16-89836265-A-T |
FANCA |
c.2484T>A |
p.D828E |
Missense |
26/43 |
- |
19-45868311-G-A |
ERCC2 |
c.466C>T |
p.R156* |
Nonsense |
6/23 |
- |
7-41729711-C-T |
INHBA |
c.818G>A |
p.G273D |
Missense |
3/3 |
- |
X-47039636-T-A |
RBM10 |
c.1088T>A |
p.L363Q |
Missense |
11/24 |
- |
1-228612929-G-C |
H3-4 |
c.98C>G |
p.T33S |
Missense |
1/1 |
- |
5-180030223-C-T |
FLT4 |
c.4061G>A |
p.R1354H |
Missense |
30/30 |
- |
6-26020922-C-T |
H3C1 |
c.205C>T |
p.Q69* |
Nonsense |
1/1 |
- |
7-151860599-T-C |
KMT2C |
c.10063A>G |
p.I3355V |
Missense |
43/59 |
- |
9-128206796-T-C |
MAPKAP1 |
c.1427A>G |
p.N476S |
Missense |
11/12 |
- |
12-49433059-C-T |
KMT2D |
c.8312G>A |
p.R2771Q |
Missense |
34/55 |
- |
12-133257806-G-C |
POLE |
c.122C>G |
p.T41R |
Missense |
2/49 |
- |
13-28626691-T-C |
FLT3 |
c.605A>G |
p.Q202R |
Missense |
5/24 |
- |
16-14014063-C-A |
ERCC4 |
c.41C>A |
p.P14Q |
Missense |
1/11 |
- |
9-135797283-G-C |
TSC1 |
c.586C>G |
p.P196A |
Missense |
7/23 |
- |
1-28599212-G-T |
SESN2 |
c.658G>T |
p.G220W |
Missense |
5/10 |
- |
4-187541915-G-A |
FAT1 |
c.5825C>T |
p.T1942I |
Missense |
10/27 |
- |
6-150005674-G-C |
LATS1 |
c.551C>G |
p.S184C |
Missense |
4/8 |
- |
7-151843698-G-A |
KMT2C |
c.14017C>T |
p.R4673C |
Missense |
53/59 |
- |
11-67200905-A-T |
RPS6KB2 |
c.893A>T |
p.D298V |
Missense |
10/15 |
- |
15-91352395-G-T |
BLM |
c.3780G>T |
p.L1260F |
Missense |
20/22 |
- |
16-3639021-C-T |
SLX4 |
c.4618G>A |
p.E1540K |
Missense |
12/15 |
- |
6-150016303-T-C |
LATS1 |
c.403A>G |
p.I135V |
Missense |
3/8 |
- |
13-48916774-T-C |
RB1 |
c.304T>C |
p.C102R |
Missense |
3/27 |
- |
3-10183811-G-A |
VHL |
c.280G>A |
p.E94K |
Missense |
1/3 |
- |
5-112170769-A-G |
APC |
c.1865A>G |
p.Y622C |
Missense |
15/16 |
- |
10-63817034-G-T |
ARID5B |
c.1005G>T |
p.R335S |
Missense |
6/10 |
- |
1-2491274-G-A |
TNFRSF14 |
c.317G>A |
p.R106H |
Missense |
4/8 |
- |
1-9770518-C-T |
PIK3CD |
c.5C>T |
p.P2L |
Missense |
3/24 |
- |
1-17349159-G-A |
SDHB |
c.709C>T |
p.P237S |
Missense |
7/8 |
- |
2-112722824-G-A |
MERTK |
c.814G>A |
p.V272M |
Missense |
5/19 |
- |
3-73114061-C-T |
PPP4R2 |
c.697C>T |
p.P233S |
Missense |
8/9 |
- |
6-134583141-T-C |
SGK1 |
c.215A>G |
p.H72R |
Missense |
2/14 |
- |
4-55979488-G-A |
KDR |
c.959C>T |
p.T320I |
Missense |
7/30 |
- |
11-108139218-G-T |
ATM |
c.2720G>T |
p.C907F |
Missense |
18/63 |
- |
13-28913359-G-A |
FLT1 |
c.2434C>T |
p.R812W |
Missense |
17/30 |
- |
13-29001366-C-T |
FLT1 |
c.1366G>A |
p.A456T |
Missense |
10/30 |
- |
17-63554570-G-A |
AXIN2 |
c.169C>T |
p.R57W |
Missense |
2/11 |
- |
17-66518934-G-T |
PRKAR1A |
c.215G>T |
p.G72V |
Missense |
3/11 |
- |
1-28599295-C-A |
SESN2 |
c.741C>A |
p.N247K |
Missense |
5/10 |
- |
1-16261134-C-T |
SPEN |
c.8399C>T |
p.A2800V |
Missense |
11/15 |
- |
2-242795024-C-T |
PDCD1 |
c.185G>A |
p.S62N |
Missense |
2/5 |
- |
9-8504321-G-A |
PTPRD |
c.1762C>T |
p.R588C |
Missense |
23/46 |
- |
12-111885302-G-A |
SH2B3 |
c.1190G>A |
p.R397Q |
Missense |
6/8 |
- |
14-30046661-T-C |
PRKD1 |
c.2522A>G |
p.D841G |
Missense |
18/18 |
- |
17-40362464-T-A |
STAT5B |
c.1732A>T |
p.M578L |
Missense |
14/19 |
- |
2-141214137-A-G |
LRP1B |
c.9850T>C |
p.C3284R |
Missense |
62/91 |
- |
8-68864697-T-A |
PREX2 |
c.68T>A |
p.L23Q |
Missense |
1/40 |
- |
17-16068454-G-A |
NCOR1 |
c.457C>T |
p.H153Y |
Missense |
5/46 |
- |
22-23626222-T-C |
BCR |
c.2174T>C |
p.L725P |
Missense |
9/23 |
- |
6-151687411-T-C |
ZBTB2 |
c.790A>G |
p.T264A |
Missense |
3/3 |
- |
12-416120-C-T |
KDM5A |
c.4066G>A |
p.D1356N |
Missense |
24/28 |
- |
12-472157-G-A |
KDM5A |
c.644C>T |
p.P215L |
Missense |
5/28 |
- |
5-56167853-TCAA-T |
MAP3K1 |
c.1418_1420delCAA |
p.S473_I474delinsF |
MultiAAMissense |
7/20 |
- |
22-41513324-CTAAACATAAACA-C |
EP300 |
c.228_239del12 |
p.K77_Q80del |
InFrameDeletion |
2/31 |
- |
17-63533732-ATGG-A |
AXIN2 |
c.1419_1421delCCA |
p.H474del |
InFrameDeletion |
6/11 |
- |
5-137801673-GGCGGCAGCAACAGCA-G |
EGR1 |
c.226_240del15 |
p.G76_S80del |
InFrameDeletion |
1/2 |
- |
17-7573976-T-TA |
TP53 |
c.1050_1051insT |
p.K351* |
Nonsense |
10/11 |
- |
15-88576252-TCAC-T |
NTRK3 |
c.1418_1420delGTG |
p.G473del |
InFrameDeletion |
14/20 |
- |
5-56155726-G-A |
MAP3K1 |
c.818G>A |
p.R273K |
Missense |
3/20 |
- |
5-180046321-T-C |
FLT4 |
c.2693A>G |
p.K898R |
Missense |
19/30 |
- |
3-73114232-C-G |
PPP4R2 |
c.868C>G |
p.R290G |
Missense |
8/9 |
- |
15-43724624-A-G |
TP53BP1 |
c.3443T>C |
p.L1148S |
Missense |
17/28 |
- |
7-100405190-G-A |
EPHB4 |
c.2131C>T |
p.Q711* |
Nonsense |
13/17 |
- |
6-20481568-G-A |
E2F3 |
c.637G>A |
p.V213M |
Missense |
3/7 |
- |
7-142641420-T-A |
KEL |
c.1481A>T |
p.E494V |
Missense |
13/19 |
- |
7-151878022-G-C |
KMT2C |
c.6923C>G |
p.S2308C |
Missense |
36/59 |
- |
9-139564387-G-A |
EGFL7 |
c.335G>A |
p.R112Q |
Missense |
7/11 |
- |
11-111958583-C-G |
SDHD |
c.55C>G |
p.L19V |
Missense |
2/4 |
- |
11-119146766-C-T |
CBL |
c.929C>T |
p.A310V |
Missense |
6/16 |
- |
13-32913177-A-C |
BRCA2 |
c.4685A>C |
p.Q1562P |
Missense |
11/27 |
- |
13-49050891-C-A |
RB1 |
c.2575C>A |
p.L859I |
Missense |
25/27 |
- |
16-81957108-G-T |
PLCG2 |
c.2326G>T |
p.A776S |
Missense |
22/33 |
- |
5-80109478-T-G |
MSH3 |
c.2731T>G |
p.L911V |
Missense |
20/24 |
- |
21-36259286-C-G |
RUNX1 |
c.205G>C |
p.G69R |
Missense |
4/9 |
- |
4-187541639-G-T |
FAT1 |
c.6101C>A |
p.T2034N |
Missense |
10/27 |
- |
5-180057674-T-C |
FLT4 |
c.281A>G |
p.K94R |
Missense |
3/30 |
- |
8-38205494-G-A |
NSD3 |
c.196C>T |
p.L66F |
Missense |
2/24 |
- |
8-55371781-C-A |
SOX17 |
c.471C>A |
p.H157Q |
Missense |
2/2 |
- |
12-46244334-G-C |
ARID2 |
c.2428G>C |
p.A810P |
Missense |
15/21 |
- |
4-187628563-G-A |
FAT1 |
c.2419C>T |
p.L807F |
Missense |
2/27 |
- |
X-48650368-G-T |
GATA1 |
c.338G>T |
p.R113L |
Missense |
3/6 |
- |
2-58456972-C-T |
FANCL |
c.193G>A |
p.G65R |
Missense |
3/14 |
- |
2-141680541-C-A |
LRP1B |
c.3312G>T |
p.W1104C |
Missense |
21/91 |
- |
7-81336665-G-T |
HGF |
c.1557C>A |
p.C519* |
Nonsense |
14/18 |
- |
7-142640005-A-G |
KEL |
c.1898T>C |
p.L633S |
Missense |
17/19 |
- |
7-142649704-C-A |
KEL |
c.1095G>T |
p.M365I |
Missense |
10/19 |
- |
9-139403348-G-A |
NOTCH1 |
c.3145C>T |
p.Q1049* |
Nonsense |
19/34 |
- |
17-70120209-C-T |
SOX9 |
c.1211C>T |
p.P404L |
Missense |
3/3 |
- |
X-63410730-C-A |
AMER1 |
c.2437G>T |
p.D813Y |
Missense |
2/2 |
- |
1-16255121-A-T |
SPEN |
c.2386A>T |
p.T796S |
Missense |
11/15 |
- |
2-111881374-C-T |
BCL2L11 |
c.52C>T |
p.Q18* |
Nonsense |
2/4 |
- |
4-1905965-G-A |
NSD2 |
c.620G>A |
p.C207Y |
Missense |
3/22 |
- |
4-187539275-A-G |
FAT1 |
c.8465T>C |
p.L2822P |
Missense |
10/27 |
- |
7-152345974-A-G |
XRCC2 |
c.596T>C |
p.M199T |
Missense |
3/3 |
- |
13-21549473-G-A |
LATS2 |
c.2803C>T |
p.P935S |
Missense |
8/8 |
- |
15-43749251-T-C |
TP53BP1 |
c.1555A>G |
p.K519E |
Missense |
12/28 |
- |
18-39550376-A-T |
PIK3C3 |
c.487A>T |
p.T163S |
Missense |
4/25 |
- |
2-141242996-G-T |
LRP1B |
c.9341C>A |
p.S3114Y |
Missense |
59/91 |
- |
11-85961458-A-G |
EED |
c.235A>G |
p.K79E |
Missense |
2/12 |
- |
11-94910967-T-C |
SESN3 |
c.1163A>G |
p.N388S |
Missense |
8/10 |
- |
12-123889451-A-C |
KMT5A |
c.678A>C |
p.K226N |
Missense |
7/8 |
- |
4-187557833-T-C |
FAT1 |
c.3878A>G |
p.D1293G |
Missense |
5/27 |
- |
15-88679781-C-T |
NTRK3 |
c.682G>A |
p.V228I |
Missense |
8/20 |
- |
15-91333894-A-G |
BLM |
c.2839A>G |
p.I947V |
Missense |
15/22 |
- |
22-29095911-T-C |
CHEK2 |
c.923A>G |
p.E308G |
Missense |
9/15 |
- |
2-25467166-C-A |
DNMT3A |
c.1709G>T |
p.G570V |
Missense |
15/23 |
- |
16-23646905-A-C |
PALB2 |
c.962T>G |
p.L321* |
Nonsense |
4/13 |
- |
22-21337335-G-A |
LZTR1 |
c.220G>A |
p.V74M |
Missense |
2/21 |
- |
16-72822008-TTGC-T |
ZFHX3 |
c.10164_10166delGCA |
p.Q3389del |
InFrameDeletion |
10/10 |
- |
X-63412978-CTTGCCACCAAAGAGT-C |
AMER1 |
c.174_188del15 |
p.L59_K63del |
InFrameDeletion |
2/2 |
- |
1-72163773-CC-GA |
NEGR1 |
c.584_585delGGinsTC |
p.R195I |
Missense |
4/7 |
- |
1-16255154-C-T |
SPEN |
c.2419C>T |
p.R807C |
Missense |
11/15 |
- |
8-41845004-T-G |
KAT6A |
c.678A>C |
p.E226D |
Missense |
3/17 |
- |
1-246027147-T-G |
SMYD3 |
c.855A>C |
p.E285D |
Missense |
9/12 |
- |
6-20488374-G-A |
E2F3 |
c.1030G>A |
p.G344R |
Missense |
6/7 |
- |
6-20488374-G-C |
E2F3 |
c.1030G>C |
p.G344R |
Missense |
6/7 |
- |
15-43749236-T-C |
TP53BP1 |
c.1570A>G |
p.T524A |
Missense |
12/28 |
- |
2-227660259-G-A |
IRS1 |
c.3196C>T |
p.P1066S |
Missense |
1/2 |
- |
5-57752401-T-A |
PLK2 |
c.1172A>T |
p.E391V |
Missense |
9/14 |
- |
3-72866527-A-G |
SHQ1 |
c.736T>C |
p.S246P |
Missense |
7/11 |
- |
5-161116112-A-G |
GABRA6 |
c.383A>G |
p.N128S |
Missense |
4/9 |
- |
5-176721790-A-C |
NSD1 |
c.7421A>C |
p.Q2474P |
Missense |
23/23 |
- |
8-69129903-G-A |
PREX2 |
c.4657G>A |
p.G1553R |
Missense |
38/40 |
- |
10-63851054-C-T |
ARID5B |
c.1832C>T |
p.T611M |
Missense |
10/10 |
- |
12-50483727-G-A |
SMARCD1 |
c.832G>A |
p.V278M |
Missense |
7/13 |
- |
15-73995322-G-A |
CD276 |
c.628G>A |
p.V210M |
Missense |
4/10 |
- |
5-176637372-T-A |
NSD1 |
c.1972T>A |
p.S658T |
Missense |
5/23 |
- |
16-72993698-G-A |
ZFHX3 |
c.347C>T |
p.T116I |
Missense |
2/10 |
- |
17-37618391-C-T |
CDK12 |
c.67C>T |
p.P23S |
Missense |
1/14 |
- |
19-15272087-G-A |
NOTCH3 |
c.6352C>T |
p.P2118S |
Missense |
33/33 |
- |
X-47038888-A-G |
RBM10 |
c.895A>G |
p.N299D |
Missense |
9/24 |
- |
13-32910839-G-A |
BRCA2 |
c.2347G>A |
p.V783I |
Missense |
11/27 |
- |
7-100416166-G-C |
EPHB4 |
c.1398C>G |
p.D466E |
Missense |
7/17 |
- |
4-187584746-C-T |
FAT1 |
c.3287G>A |
p.R1096Q |
Missense |
3/27 |
- |
8-41839364-T-C |
KAT6A |
c.818A>G |
p.K273R |
Missense |
4/17 |
- |
5-39002683-T-C |
RICTOR |
c.346A>G |
p.I116V |
Missense |
5/38 |
- |
6-161771220-G-C |
PRKN |
c.1309C>G |
p.P437A |
Missense |
12/12 |
- |
7-77797349-T-A |
MAGI2 |
c.2480A>T |
p.Y827F |
Missense |
15/22 |
- |
9-27202937-C-A |
TEK |
c.2029C>A |
p.Q677K |
Missense |
13/23 |
- |
12-69968460-A-G |
FRS2 |
c.1252A>G |
p.T418A |
Missense |
9/9 |
- |
12-133226047-G-A |
POLE |
c.3850C>T |
p.R1284W |
Missense |
31/49 |
- |
13-103528245-A-G |
ERCC5 |
c.3553A>G |
p.K1185E |
Missense |
15/15 |
- |
19-41727911-C-T |
AXL |
c.536C>T |
p.P179L |
Missense |
4/20 |
- |
17-37866080-C-G |
ERBB2 |
c.589C>G |
p.P197A |
Missense |
5/27 |
- |
20-54961381-A-G |
AURKA |
c.251T>C |
p.V84A |
Missense |
3/9 |
- |
22-24145495-G-A |
SMARCB1 |
c.514G>A |
p.D172N |
Missense |
5/9 |
- |
19-41725307-C-T |
AXL |
c.10C>T |
p.R4W |
Missense |
1/20 |
- |
X-39934211-C-T |
BCOR |
c.388G>A |
p.E130K |
Missense |
4/15 |
- |
4-187584498-T-C |
FAT1 |
c.3535A>G |
p.T1179A |
Missense |
3/27 |
- |
2-141526806-C-T |
LRP1B |
c.5734G>A |
p.A1912T |
Missense |
35/91 |
- |
15-42035256-G-A |
MGA |
c.5098G>A |
p.V1700M |
Missense |
15/24 |
- |
2-141777624-G-A |
LRP1B |
c.1837C>T |
p.L613F |
Missense |
12/91 |
- |
3-156413700-A-C |
TIPARP |
c.1133A>C |
p.E378A |
Missense |
4/6 |
- |
6-35423973-G-C |
FANCE |
c.698G>C |
p.R233T |
Missense |
2/10 |
- |
1-120056718-A-T |
HSD3B1 |
c.572A>T |
p.Y191F |
Missense |
4/4 |
- |
4-55133832-T-G |
PDGFRA |
c.1045T>G |
p.W349G |
Missense |
7/23 |
- |
19-18965420-T-G |
UPF1 |
c.1167T>G |
p.D389E |
Missense |
9/24 |
- |
7-142658493-AAGG-A |
KEL |
c.174_176delCCT |
p.L59del |
InFrameDeletion |
3/19 |
- |
22-21346036-ACAACACGCTGCCCAACGAGCTGCACTG-A |
LZTR1 |
c.913_939del27 |
p.N305_C313del |
InFrameDeletion |
9/21 |
- |
19-41748890-TCCA-T |
AXL |
c.1418_1420delACC |
p.H473del |
InFrameDeletion |
11/20 |
- |
7-55210118-TTTCCTTCTTAAA-T |
EGFR |
c.228_239del12 |
p.S77_K80del |
SpliceDonorDeletion |
2/28 |
- |
7-55210072-T-TGCAGCA |
EGFR |
c.182_183insGCAGCA |
p.V61_L62insQH |
InFrameInsertion |
2/28 |
- |
17-62007623-CCTG-C |
CD79B |
c.238_240delCAG |
p.Q80del |
InFrameDeletion |
3/6 |
- |
17-16024381-G-A |
NCOR1 |
c.1837C>T |
p.P613S |
Missense |
16/46 |
- |
X-47040781-AGGG-A |
RBM10 |
c.1418_1420delGGG |
p.G473del |
InFrameDeletion |
13/24 |
- |
2-109357057-A-G |
RANBP2 |
c.895A>G |
p.K299E |
Missense |
7/29 |
- |
15-73996332-G-A |
CD276 |
c.1066G>A |
p.V356M |
Missense |
5/10 |
- |
15-73996332-G-C |
CD276 |
c.1066G>C |
p.V356L |
Missense |
5/10 |
- |
3-72428487-C-T |
RYBP |
c.433G>A |
p.V145I |
missense_variant |
2/4 |
- |
17-17965216-G-A |
GID4 |
c.766G>A |
p.G256R |
Missense |
5/6 |
- |
X-47044845-C-A |
RBM10 |
c.2171C>A |
p.P724H |
Missense |
20/24 |
- |
X-47041648-G-T |
RBM10 |
c.1873G>T |
p.G625* |
Nonsense |
17/24 |
- |
3-47061265-T-G |
SETD2 |
c.7416A>C |
p.E2472D |
Missense |
19/21 |
- |
4-55136880-C-A |
PDGFRA |
c.1202C>A |
p.A401D |
Missense |
8/23 |
- |
4-187540634-G-A |
FAT1 |
c.7106C>T |
p.T2369M |
Missense |
10/27 |
- |
6-134492047-T-C |
SGK1 |
c.1330A>G |
p.I444V |
Missense |
13/14 |
- |
8-145739467-G-A |
RECQL4 |
c.1903C>T |
p.H635Y |
Missense |
12/22 |
- |
11-100998657-G-A |
PGR |
c.1145C>T |
p.P382L |
Missense |
1/8 |
- |
13-103515168-G-A |
ERCC5 |
c.1669G>A |
p.D557N |
Missense |
8/15 |
- |
19-4099265-C-T |
MAP2K2 |
c.853G>A |
p.D285N |
Missense |
7/11 |
- |
20-57478734-T-G |
GNAS |
c.320T>G |
p.V107G |
Missense |
5/13 |
- |
19-10262196-C-G |
DNMT1 |
c.2143G>C |
p.A715P |
Missense |
24/41 |
- |
19-50140175-T-A |
RRAS |
c.250A>T |
p.T84S |
Missense |
3/6 |
- |
8-145739869-T-C |
RECQL4 |
c.1661A>G |
p.H554R |
Missense |
10/22 |
- |
11-100998685-C-T |
PGR |
c.1117G>A |
p.A373T |
Missense |
1/8 |
- |
12-111885999-C-T |
SH2B3 |
c.1621C>T |
p.H541Y |
Missense |
8/8 |
- |
16-3828751-C-A |
CREBBP |
c.1891G>T |
p.A631S |
Missense |
9/31 |
- |
17-16029465-G-C |
NCOR1 |
c.1565C>G |
p.A522G |
Missense |
15/46 |
- |
19-5223251-C-T |
PTPRS |
c.2552G>A |
p.R851H |
Missense |
18/38 |
- |
20-46251047-A-G |
NCOA3 |
c.56A>G |
p.K19R |
Missense |
3/23 |
- |
16-72830355-T-C |
ZFHX3 |
c.6226A>G |
p.I2076V |
Missense |
9/10 |
- |
11-108126971-T-G |
ATM |
c.2154T>G |
p.C718W |
Missense |
14/63 |
- |
20-57478743-T-A |
GNAS |
c.329T>A |
p.M110K |
Missense |
5/13 |
- |
19-10602845-C-T |
KEAP1 |
c.733G>A |
p.V245I |
Missense |
3/6 |
- |
6-26056410-C-G |
H1-2 |
c.247G>C |
p.G83R |
Missense |
1/1 |
- |
2-141819811-C-T |
LRP1B |
c.1045G>A |
p.A349T |
Missense |
8/91 |
- |
7-151877813-T-C |
KMT2C |
c.7132A>G |
p.T2378A |
Missense |
36/59 |
- |
9-8636826-C-A |
PTPRD |
c.83G>T |
p.R28L |
Missense |
13/46 |
- |
13-21557391-C-A |
LATS2 |
c.2454G>T |
p.W818C |
Missense |
5/8 |
- |
15-91308640-T-A |
BLM |
c.2189T>A |
p.L730* |
Nonsense |
9/22 |
- |
17-46804391-G-T |
HOXB13 |
c.616C>A |
p.H206N |
Missense |
2/2 |
- |
19-10602760-C-T |
KEAP1 |
c.818G>A |
p.C273Y |
Missense |
3/6 |
- |
1-162742033-G-A |
DDR2 |
c.1724G>A |
p.G575E |
Missense |
13/18 |
- |
1-226568835-T-C |
PARP1 |
c.1234A>G |
p.I412V |
Missense |
9/23 |
- |
2-58392880-T-C |
FANCL |
c.670A>G |
p.T224A |
Missense |
8/14 |
- |
2-109384800-C-T |
RANBP2 |
c.7805C>T |
p.T2602M |
Missense |
20/29 |
- |
2-109347264-G-T |
RANBP2 |
c.175G>T |
p.D59Y |
Missense |
3/29 |
- |
9-139564131-G-A |
EGFL7 |
c.271G>A |
p.G91S |
Missense |
6/11 |
- |
12-21628504-C-T |
RECQL |
c.1114G>A |
p.V372I |
Missense |
10/15 |
- |
12-56491590-C-T |
ERBB3 |
c.2482C>T |
p.H828Y |
Missense |
21/28 |
- |
1-158581148-G-T |
SPTA1 |
c.7166C>A |
p.A2389D |
Missense |
52/52 |
- |
2-225370710-A-T |
CUL3 |
c.1169T>A |
p.L390* |
Nonsense |
8/16 |
- |
18-19751694-A-C |
GATA6 |
c.589A>C |
p.M197L |
Missense |
2/7 |
- |
7-86415875-A-T |
GRM3 |
c.767A>T |
p.Y256F |
Missense |
3/6 |
- |
17-63533618-C-A |
AXIN2 |
c.1536G>T |
p.K512N |
Missense |
6/11 |
- |
11-108121610-A-C |
ATM |
c.1418A>C |
p.E473A |
Missense |
10/63 |
- |
1-40366656-G-A |
MYCL |
c.451C>T |
p.P151S |
Missense |
1/2 |
- |
2-39262577-C-T |
SOS1 |
c.929G>A |
p.R310H |
Missense |
7/23 |
- |
5-79950739-G-C |
MSH3 |
c.193G>C |
p.A65P |
Missense |
1/24 |
- |
5-161116274-C-A |
GABRA6 |
c.461C>A |
p.A154D |
Missense |
5/9 |
- |
4-187517748-A-T |
FAT1 |
c.12946T>A |
p.S4316T |
Missense |
25/27 |
- |
2-109371654-G-A |
RANBP2 |
c.2405G>A |
p.R802Q |
Missense |
17/29 |
- |
2-128036890-C-T |
ERCC3 |
c.1589G>A |
p.R530Q |
Missense |
10/15 |
- |
X-63412570-C-A |
AMER1 |
c.597G>T |
p.R199S |
Missense |
2/2 |
- |
2-227661057-A-G |
IRS1 |
c.2398T>C |
p.Y800H |
Missense |
1/2 |
- |
2-227663105-G-A |
IRS1 |
c.350C>T |
p.A117V |
Missense |
1/2 |
- |
7-2968298-A-T |
CARD11 |
c.1688T>A |
p.I563N |
Missense |
13/25 |
- |
11-118360946-G-A |
KMT2A |
c.4678G>A |
p.A1560T |
Missense |
13/36 |
- |
13-73349353-C-T |
DIS3 |
c.983G>A |
p.R328Q |
Missense |
6/21 |
- |
16-30128020-C-T |
MAPK3 |
c.1109G>A |
p.R370H |
Missense |
8/9 |
- |
11-32456484-AGGC-A |
WT1 |
c.405_407delGCC |
p.P141del |
InFrameDeletion |
1/10 |
- |
1-27023144-GGCGGCGGCGGAGCCGGCA-G |
ARID1A |
c.261_278del18 |
p.A88_G93del |
InFrameDeletion |
1/20 |
- |
3-149260193-TCTG-T |
WWTR1 |
c.697_699delCAG |
p.Q233del |
InFrameDeletion |
4/7 |
- |
2-30143176-G-A |
ALK |
c.350C>T |
p.P117L |
Missense |
1/29 |
- |
2-109352078-C-T |
RANBP2 |
c.496C>T |
p.H166Y |
Missense |
5/29 |
- |
1-156837904-C-T |
NTRK1 |
c.437C>T |
p.S146L |
Missense |
5/17 |
- |
2-225371576-T-C |
CUL3 |
c.1028A>G |
p.Q343R |
Missense |
7/16 |
- |
12-56481805-G-A |
ERBB3 |
c.733G>A |
p.A245T |
Missense |
7/28 |
- |
1-162743380-A-G |
DDR2 |
c.1850A>G |
p.N617S |
Missense |
14/18 |
- |
11-64135956-A-G |
RPS6KA4 |
c.1217A>G |
p.Q406R |
Missense |
11/17 |
- |
3-73113180-C-T |
PPP4R2 |
c.521C>T |
p.P174L |
Missense |
7/9 |
- |
6-20488470-G-T |
E2F3 |
c.1126G>T |
p.A376S |
Missense |
6/7 |
- |
17-17118350-G-A |
FLCN |
c.1487C>T |
p.S496F |
Missense |
13/14 |
- |
16-89838116-G-T |
FANCA |
c.2121C>A |
p.N707K |
Missense |
23/43 |
- |
4-55964435-T-C |
KDR |
c.2378A>G |
p.N793S |
Missense |
17/30 |
- |
17-56448309-C-T |
RNF43 |
c.338G>A |
p.R113Q |
Missense |
3/10 |
- |
20-50408232-T-C |
SALL4 |
c.790A>G |
p.M264V |
Missense |
2/4 |
- |
11-9595749-A-G |
WEE1 |
c.269A>G |
p.E90G |
Missense |
1/11 |
- |
18-48584825-C-G |
SMAD4 |
c.903C>G |
p.Y301* |
Nonsense |
7/12 |
- |
2-111431788-C-T |
BUB1 |
c.100G>A |
p.V34I |
Missense |
3/25 |
- |
1-162731124-G-A |
DDR2 |
c.979G>A |
p.V327I |
Missense |
9/18 |
- |
22-41566480-C-T |
EP300 |
c.4357C>T |
p.P1453S |
Missense |
27/31 |
- |
8-27634207-G-A |
ESCO2 |
c.382G>A |
p.G128R |
Missense |
3/11 |
- |
6-152419991-G-A |
ESR1 |
c.1678G>A |
p.V560M |
Missense |
8/8 |
- |
3-47165816-G-T |
SETD2 |
c.310C>A |
p.P104T |
Missense |
3/21 |
- |
16-3651028-C-T |
SLX4 |
c.1115G>A |
p.R372Q |
Missense |
5/15 |
- |
8-55371882-G-T |
SOX17 |
c.572G>T |
p.G191V |
Missense |
2/2 |
- |
10-76781905-GGAAGAA-G |
KAT6B |
c.3307_3312delGAAGAA |
p.E1103_E1104del |
InFrameDeletion |
16/18 |
- |
1-158606499-C-T |
SPTA1 |
c.5242G>A |
p.V1748I |
Missense |
37/52 |
- |
2-227660487-T-C |
IRS1 |
c.2968A>G |
p.M990V |
Missense |
1/2 |
- |
5-112177922-G-A |
APC |
c.6631G>A |
p.G2211S |
Missense |
16/16 |
- |
20-54961408-T-G |
AURKA |
c.224A>C |
p.K75T |
Missense |
3/9 |
- |
1-7737712-T-G |
CAMTA1 |
c.2833T>G |
p.S945A |
Missense |
11/23 |
- |
22-41533700-A-G |
EP300 |
c.1666A>G |
p.M556V |
Missense |
8/31 |
- |
20-54945677-G-A |
AURKA |
c.893C>T |
p.P298L |
Missense |
8/9 |
- |
7-13946197-T-C |
ETV1 |
c.968A>G |
p.Y323C |
Missense |
12/14 |
- |
5-176637243-T-G |
NSD1 |
c.1843T>G |
p.C615G |
Missense |
5/23 |
- |
10-32311107-C-A |
KIF5B |
c.1993G>T |
p.D665Y |
Missense |
17/26 |
- |
6-43550160-C-T |
POLH |
c.104C>T |
p.A35V |
Missense |
2/11 |
- |
5-38952520-C-T |
RICTOR |
c.2905G>A |
p.V969I |
Missense |
30/38 |
- |
17-58725406-C-G |
PPM1D |
c.980C>G |
p.S327* |
Nonsense |
4/6 |
- |
2-216296629-A-C |
FN1 |
c.474T>G |
p.H158Q |
Missense |
4/46 |
- |
1-22176542-G-A |
HSPG2 |
c.7438C>T |
p.R2480W |
Missense |
57/97 |
- |
5-176517812-G-A |
FGFR4 |
c.422G>A |
p.S141N |
Missense |
4/18 |
- |
8-103289337-T-A |
UBR5 |
c.6372A>T |
p.E2124D |
Missense |
45/59 |
- |
8-145738801-C-T |
RECQL4 |
c.2264G>A |
p.R755Q |
Missense |
14/22 |
- |
13-32890608-G-C |
BRCA2 |
c.11G>C |
p.G4A |
Missense |
2/27 |
- |
22-30035184-C-T |
NF2 |
c.346C>T |
p.H116Y |
Missense |
3/16 |
- |
17-7579446-TAGG-T |
TP53 |
c.238_240delCCT |
p.P80del |
InFrameDeletion |
4/11 |
- |
18-48603117-GGAT-G |
SMAD4 |
c.1418_1420delGAT |
p.G473_S474delinsA |
MultiAAMissense |
11/12 |
- |
X-70360623-ACAG-A |
MED12 |
c.6198_6200delGCA |
p.Q2076del |
InFrameDeletion |
42/45 |
- |
5-37063924-TGAA-T |
NIPBL |
c.7907_7909delAAG |
p.E2636del |
InFrameDeletion |
46/47 |
- |
2-96919780-ATGC-A |
TMEM127 |
c.480_482delGCA |
p.Q160del |
InFrameDeletion |
4/4 |
- |
12-49426753-AGTTGCT-A |
KMT2D |
c.11729_11734delAGCAAC |
p.Q3910_Q3911del |
InFrameDeletion |
40/55 |
- |
20-57478616-AAAC-A |
GNAS |
c.292_294delAAC |
p.N98del |
InFrameDeletion |
4/13 |
- |
22-23596120-GGCAGCC-G |
BCR |
c.1416_1421delCAGCCG |
p.S473_R474del |
InFrameDeletion |
2/23 |
- |
8-128752807-A-G |
MYC |
c.968A>G |
p.N323S |
Missense |
3/3 |
- |
1-22222420-CTGG-C |
HSPG2 |
c.237_239delCCA |
p.F79_Q80delinsL |
MultiAAMissense |
3/97 |
- |
10-76729508-GCCT-G |
KAT6B |
c.821_823delCCT |
p.A274_C275delinsG |
MultiAAMissense |
5/18 |
- |
11-103128425-G-A |
DYNC2H1 |
c.10550G>A |
p.R3517H |
Missense |
69/89 |
- |
1-25229100-G-A |
RUNX3 |
c.761C>T |
p.T254M |
Missense |
5/5 |
- |
1-25229100-G-C |
RUNX3 |
c.761C>G |
p.T254R |
Missense |
5/5 |
- |
19-3532641-A-G |
FZR1 |
c.1235A>G |
p.N412S |
Missense |
11/14 |
- |
6-137528167-T-C |
IFNGR1 |
c.133A>G |
p.I45V |
Missense |
2/7 |
- |
11-108106462-A-G |
ATM |
c.397A>G |
p.N133D |
Missense |
5/63 |
- |
19-2226490-G-A |
DOT1L |
c.3970G>A |
p.A1324T |
Missense |
27/28 |
- |
6-26056197-T-C |
H1-2 |
c.460A>G |
p.T154A |
Missense |
1/1 |
- |
2-109381529-G-T |
RANBP2 |
c.4534G>T |
p.A1512S |
Missense |
20/29 |
- |
21-42866388-A-C |
TMPRSS2 |
c.133T>G |
p.Y45D |
Missense |
3/14 |
- |
2-58392939-A-T |
FANCL |
c.611T>A |
p.M204K |
Missense |
8/14 |
- |
3-49927997-T-A |
MST1R |
c.3731A>T |
p.H1244L |
Missense |
18/20 |
- |
7-55221750-C-G |
EGFR |
c.794C>G |
p.P265R |
Missense |
7/28 |
- |
X-63412839-C-T |
AMER1 |
c.328G>A |
p.V110I |
Missense |
2/2 |
- |
3-10116292-G-T |
FANCD2 |
c.2794G>T |
p.V932F |
Missense |
29/44 |
- |
8-90993741-T-C |
NBN |
c.182A>G |
p.D61G |
Missense |
3/16 |
- |
10-63845597-C-T |
ARID5B |
c.1336C>T |
p.H446Y |
Missense |
9/10 |
- |
15-42042493-A-G |
MGA |
c.6688A>G |
p.I2230V |
Missense |
17/24 |
- |
15-73994770-A-G |
CD276 |
c.254A>G |
p.Q85R |
Missense |
3/10 |
- |
16-14029153-A-G |
ERCC4 |
c.1364A>G |
p.K455R |
Missense |
8/11 |
- |
17-17942830-C-T |
GID4 |
c.52C>T |
p.P18S |
Missense |
1/6 |
- |
X-47028847-C-T |
RBM10 |
c.151C>T |
p.Q51* |
Nonsense |
3/24 |
- |
3-156421304-A-C |
TIPARP |
c.1339A>C |
p.N447H |
Missense |
5/6 |
- |
6-134492280-C-T |
SGK1 |
c.1204G>A |
p.D402N |
Missense |
12/14 |
- |
7-151846114-A-G |
KMT2C |
c.12898T>C |
p.S4300P |
Missense |
52/59 |
- |
8-145737580-G-A |
RECQL4 |
c.3184C>T |
p.R1062W |
Missense |
19/22 |
- |
11-22647274-G-C |
FANCF |
c.83C>G |
p.P28R |
Missense |
1/1 |
- |
17-78914341-G-A |
RPTOR |
c.2965G>A |
p.E989K |
Missense |
25/34 |
- |
21-45649954-G-A |
ICOSLG |
c.881C>T |
p.P294L |
Missense |
6/7 |
- |
12-49438033-C-G |
KMT2D |
c.5138G>C |
p.G1713A |
Missense |
22/55 |
- |
1-17355193-T-A |
SDHB |
c.325A>T |
p.N109Y |
Missense |
4/8 |
- |
4-1932441-C-T |
NSD2 |
c.1499C>T |
p.A500V |
Missense |
6/22 |
- |
7-81350116-T-G |
HGF |
c.1216A>C |
p.T406P |
Missense |
10/18 |
- |
1-28599897-C-T |
SESN2 |
c.779C>T |
p.A260V |
Missense |
6/10 |
- |
1-43804956-C-T |
MPL |
c.406C>T |
p.P136S |
Missense |
4/12 |
- |
1-120548096-G-C |
NOTCH2 |
c.271C>G |
p.R91G |
Missense |
3/34 |
- |
15-43748365-C-A |
TP53BP1 |
c.2441G>T |
p.S814I |
Missense |
12/28 |
- |
2-29541235-C-T |
ALK |
c.1582G>A |
p.A528T |
Missense |
8/29 |
- |
7-2984019-C-T |
CARD11 |
c.511G>A |
p.V171M |
Missense |
5/25 |
- |
8-37697076-C-T |
ADGRA2 |
c.2447C>T |
p.A816V |
Missense |
16/19 |
- |
16-89347486-C-T |
ANKRD11 |
c.5464G>A |
p.D1822N |
Missense |
9/13 |
- |
19-36211552-C-G |
KMT2B |
c.1303C>G |
p.P435A |
Missense |
3/37 |
- |
X-70601761-T-A |
TAF1 |
c.1589T>A |
p.L510H |
Missense |
9/38 |
- |
1-43803899-C-T |
MPL |
c.209C>T |
p.P70L |
Missense |
2/12 |
- |
1-158632656-C-T |
SPTA1 |
c.2300G>A |
p.R767K |
Missense |
17/52 |
- |
6-20402746-G-T |
E2F3 |
c.283G>T |
p.A95S |
Missense |
1/7 |
- |
9-8465633-C-A |
PTPRD |
c.3547G>T |
p.G1183W |
Missense |
32/46 |
- |
17-29527483-G-T |
NF1 |
c.932G>T |
p.G311V |
Missense |
9/58 |
- |
19-17953253-G-C |
JAK3 |
c.733C>G |
p.L245V |
Missense |
6/24 |
- |
1-158648261-G-A |
SPTA1 |
c.742C>T |
p.R248C |
Missense |
6/52 |
- |
9-8485851-G-A |
PTPRD |
c.2966C>T |
p.T989I |
Missense |
28/46 |
- |
6-149997769-G-A |
LATS1 |
c.2698C>T |
p.R900C |
Missense |
6/8 |
- |
7-6022456-C-T |
PMS2 |
c.2173G>A |
p.A725T |
Missense |
12/15 |
- |
8-145737580-G-C |
RECQL4 |
c.3184C>G |
p.R1062G |
Missense |
19/22 |
- |
7-151848636-C-T |
KMT2C |
c.12557G>A |
p.G4186D |
Missense |
50/59 |
- |
9-139794069-C-T |
TRAF2 |
c.212C>T |
p.A71V |
Missense |
3/11 |
- |
16-3640215-A-G |
SLX4 |
c.3424T>C |
p.S1142P |
Missense |
12/15 |
- |
19-18943209-G-T |
UPF1 |
c.191G>T |
p.G64V |
Missense |
1/24 |
- |
20-46279830-GCAGCAA-G |
NCOA3 |
c.3762_3767delACAGCA |
p.Q1275_Q1276del |
InFrameDeletion |
20/23 |
- |
7-151845153-ATGGCCTTGTTCC-A |
KMT2C |
c.13848_13859del12 |
p.Q4618_E4621del |
InFrameDeletion |
52/59 |
- |
19-15289635-CTGGGCA-C |
NOTCH3 |
c.3831_3836delTGCCCA |
p.C1277_Q1279delinsW |
SpliceDonorDeletion |
23/33 |
- |
20-46266441-G-A |
NCOA3 |
c.2426G>A |
p.S809N |
Missense |
13/23 |
- |
17-17965244-C-G |
GID4 |
c.794C>G |
p.S265* |
Nonsense |
5/6 |
- |
15-41988548-C-T |
MGA |
c.1340C>T |
p.P447L |
Missense |
3/24 |
- |
X-39911390-C-G |
BCOR |
c.5240G>C |
p.S1747T |
Missense |
15/15 |
- |
15-43748365-C-T |
TP53BP1 |
c.2441G>A |
p.S814N |
Missense |
12/28 |
- |
17-78931492-G-A |
RPTOR |
c.3439G>A |
p.V1147I |
Missense |
29/34 |
- |
17-63533865-C-T |
AXIN2 |
c.1289G>A |
p.S430N |
Missense |
6/11 |
- |
15-91354582-C-T |
BLM |
c.4022C>T |
p.A1341V |
Missense |
21/22 |
- |
1-98058883-G-A |
DPYD |
c.1019C>T |
p.A340V |
Missense |
10/23 |
- |
11-44129444-G-A |
EXT2 |
c.182G>A |
p.R61H |
Missense |
2/14 |
- |
1-22150672-G-A |
HSPG2 |
c.12841C>T |
p.R4281C |
Missense |
95/97 |
- |
14-75514070-C-A |
MLH3 |
c.2289G>T |
p.K763N |
Missense |
2/13 |
- |
8-96057801-G-T |
NDUFAF6 |
c.506G>T |
p.R169L |
Missense |
5/9 |
- |
22-41543949-C-T |
EP300 |
c.2240C>T |
p.P747L |
Missense |
12/31 |
- |
3-37042462-T-C |
MLH1 |
c.224T>C |
p.I75T |
Missense |
3/19 |
- |
16-3658668-T-C |
SLX4 |
c.298A>G |
p.T100A |
Missense |
2/15 |
- |
17-40948193-G-C |
WNK4 |
c.3484G>C |
p.D1162H |
Missense |
17/19 |
- |
8-41790541-C-A |
KAT6A |
c.5197G>T |
p.E1733* |
Nonsense |
17/17 |
- |
12-49445821-A-T |
KMT2D |
c.1645T>A |
p.F549I |
Missense |
11/55 |
- |
14-68878231-C-G |
RAD51B |
c.944C>G |
p.S315* |
Nonsense |
9/11 |
- |
1-158626443-G-T |
SPTA1 |
c.2809C>A |
p.L937I |
Missense |
20/52 |
- |
2-17955667-C-T |
GEN1 |
c.1201C>T |
p.R401* |
Nonsense |
11/14 |
- |
17-46805405-C-A |
HOXB13 |
c.551G>T |
p.C184F |
Missense |
1/2 |
- |
5-131927015-C-G |
RAD50 |
c.1552C>G |
p.L518V |
Missense |
10/25 |
- |
1-22204732-G-A |
HSPG2 |
c.2632C>T |
p.R878C |
Missense |
21/97 |
- |
7-103207075-C-T |
RELN |
c.4720G>A |
p.A1574T |
Missense |
32/65 |
- |
1-182555531-C-G |
RNASEL |
c.411G>C |
p.K137N |
Missense |
2/7 |
- |
14-81610468-T-G |
TSHR |
c.2066T>G |
p.V689G |
Missense |
10/10 |
- |
10-31750149-A-G |
ZEB1 |
c.242A>G |
p.N81S |
Missense |
2/9 |
- |
2-141945994-C-G |
LRP1B |
c.1009G>C |
p.A337P |
Missense |
7/91 |
- |
7-103202089-C-T |
RELN |
c.5419G>A |
p.D1807N |
Missense |
36/65 |
- |
8-41798955-T-C |
KAT6A |
c.2444A>G |
p.K815R |
Missense |
15/17 |
- |
3-128628975-C-A |
ACAD9 |
c.1675C>A |
p.R559S |
Missense |
16/18 |
- |
2-128044317-C-A |
ERCC3 |
c.1304G>T |
p.W435L |
Missense |
8/15 |
- |
16-89815141-C-T |
FANCA |
c.3274G>A |
p.G1092S |
Missense |
33/43 |
- |
9-86592621-T-C |
HNRNPK |
c.139A>G |
p.I47V |
Missense |
4/17 |
- |
18-53128314-C-T |
TCF4 |
c.240G>A |
p.M80I |
Missense |
5/20 |
- |
10-76789182-A-C |
KAT6B |
c.4600A>C |
p.T1534P |
Missense |
18/18 |
- |
16-16251549-C-T |
ABCC6 |
c.3853G>A |
p.V1285M |
Missense |
27/31 |
- |
1-179100604-C-T |
ABL2 |
c.233G>A |
p.R78H |
Missense |
3/12 |
- |
1-22176880-T-C |
HSPG2 |
c.7270A>G |
p.I2424V |
Missense |
56/97 |
- |
8-41906092-A-C |
KAT6A |
c.404T>G |
p.F135C |
Missense |
2/17 |
- |
19-11151986-A-G |
SMARCA4 |
c.4174A>G |
p.I1392V |
Missense |
30/35 |
- |
1-193119450-C-G |
CDC73 |
c.845C>G |
p.T282S |
Missense |
9/17 |
- |
1-27023450-AGCG-A |
ARID1A |
c.567_569delCGG |
p.G191del |
InFrameDeletion |
1/20 |
- |
3-128627857-GTTGGCCGGAGGCTTCGGGACT-G |
ACAD9 |
c.1400_1420del21 |
p.V467_S474delinsA |
MultiAAMissense |
14/18 |
- |
3-128603564-CCGTGGAAAAATTCTTCACTGA-C |
ACAD9 |
c.219_239del21 |
p.V74_E80del |
InFrameDeletion |
2/18 |
- |
12-25380217-CACA-C |
KRAS |
c.238_240delTGT |
p.C80del |
InFrameDeletion |
3/5 |
- |
1-27023140-TGGC-T |
ARID1A |
c.258_260delCGG |
p.G87del |
InFrameDeletion |
1/20 |
- |
17-42940135-TC-AA |
EFTUD2 |
c.1552_1553delinsTT |
p.D518F |
Missense |
16/28 |
- |
17-63554515-A-G |
AXIN2 |
c.224T>C |
p.L75P |
Missense |
2/11 |
- |
2-47641532-C-G |
MSH2 |
c.917C>G |
p.A306G |
Missense |
5/16 |
- |
20-40710573-G-C |
PTPRT |
c.4221C>G |
p.F1407L |
Missense |
30/31 |
- |
19-50919693-C-T |
POLD1 |
c.2861C>T |
p.T954M |
Missense |
23/27 |
- |
7-55223550-C-G |
EGFR |
c.917C>G |
p.S306W |
Missense |
8/28 |
- |
2-111425146-C-G |
BUB1 |
c.757G>C |
p.E253Q |
Missense |
8/25 |
- |
1-28595739-G-A |
SESN2 |
c.136G>A |
p.A46T |
Missense |
2/10 |
- |
1-156834527-G-A |
NTRK1 |
c.295G>A |
p.V99M |
Missense |
3/17 |
- |
2-178096105-G-A |
NFE2L2 |
c.1226C>T |
p.P409L |
Missense |
5/5 |
- |
5-180045875-G-A |
FLT4 |
c.2896C>T |
p.L966F |
Missense |
21/30 |
- |
9-139564629-G-A |
EGFL7 |
c.418G>A |
p.E140K |
Missense |
8/11 |
- |
11-119156011-G-A |
CBL |
c.1676G>A |
p.R559Q |
Missense |
11/16 |
- |
6-149997819-G-C |
LATS1 |
c.2648C>G |
p.S883* |
Nonsense |
6/8 |
- |
11-71948538-G-T |
INPPL1 |
c.3250G>T |
p.E1084* |
Nonsense |
26/28 |
- |
2-25982385-C-T |
ASXL2 |
c.905G>A |
p.R302Q |
Missense |
9/13 |
- |
2-141771224-T-C |
LRP1B |
c.2281A>G |
p.I761V |
Missense |
14/91 |
- |
10-63852760-T-C |
ARID5B |
c.3538T>C |
p.S1180P |
Missense |
10/10 |
- |
11-102199650-C-A |
BIRC3 |
c.1055C>A |
p.P352Q |
Missense |
5/9 |
- |
17-38568013-C-T |
TOP2A |
c.847G>A |
p.G283S |
Missense |
8/35 |
- |
19-5212381-G-A |
PTPRS |
c.4736C>T |
p.P1579L |
Missense |
31/38 |
- |
19-5273546-G-C |
PTPRS |
c.286C>G |
p.L96V |
Missense |
4/38 |
- |
13-103514062-A-T |
ERCC5 |
c.878A>T |
p.K293I |
Missense |
7/15 |
- |
13-110435328-G-C |
IRS2 |
c.3073C>G |
p.P1025A |
Missense |
1/2 |
- |
12-49445351-TGAGTCCTCAGGTGGTGGGGATGTGGGG-T |
KMT2D |
c.2088_2114del27 |
p.T698_P706del |
InFrameDeletion |
11/55 |
- |
6-20402833-AGCG-A |
E2F3 |
c.385_387delGGC |
p.G129del |
InFrameDeletion |
1/7 |
- |
19-10597476-G-T |
KEAP1 |
c.1727C>A |
p.T576K |
Missense |
6/6 |
- |
14-81528545-T-C |
TSHR |
c.224T>C |
p.L75P |
Missense |
2/10 |
- |
12-111856235-C-G |
SH2B3 |
c.286C>G |
p.P96A |
Missense |
2/8 |
- |
15-43700191-G-C |
TP53BP1 |
c.5696C>G |
p.T1899S |
Missense |
27/28 |
- |
13-102378986-G-T |
FGF14 |
c.583C>A |
p.H195N |
Missense |
4/5 |
- |
1-226568883-G-C |
PARP1 |
c.1186C>G |
p.L396V |
Missense |
9/23 |
- |
2-109381471-T-G |
RANBP2 |
c.4476T>G |
p.N1492K |
Missense |
20/29 |
- |
2-227660220-G-A |
IRS1 |
c.3235C>T |
p.P1079S |
Missense |
1/2 |
- |
3-185165671-A-G |
MAP3K13 |
c.946A>G |
p.T316A |
Missense |
5/14 |
- |
3-49722469-G-C |
MST1 |
c.1598C>G |
p.T533S |
Missense |
14/18 |
- |
3-72873654-A-T |
SHQ1 |
c.648T>A |
p.N216K |
Missense |
6/11 |
- |
5-180053001-G-A |
FLT4 |
c.1289C>T |
p.S430F |
Missense |
10/30 |
- |
7-142659292-A-G |
KEL |
c.2T>C |
p.M1? |
Missense |
1/19 |
- |
12-69967885-G-A |
FRS2 |
c.677G>A |
p.S226N |
Missense |
9/9 |
- |
19-15298066-C-T |
NOTCH3 |
c.1690G>A |
p.A564T |
Missense |
11/33 |
- |
7-140449124-C-A |
BRAF |
c.1955G>T |
p.G652V |
Missense |
16/18 |
- |
3-72891463-G-T |
SHQ1 |
c.299C>A |
p.S100Y |
Missense |
3/11 |
- |
16-72821642-ACCGCCG-A |
ZFHX3 |
c.10527_10532delCGGCGG |
p.G3511_G3512del |
InFrameDeletion |
10/10 |
- |
19-15303289-GTCCTCCAGCTGA-G |
NOTCH3 |
c.228_239del12 |
p.Q77_D80del |
InFrameDeletion |
3/33 |
- |
19-15308324-C-CCTGCTG |
NOTCH3 |
c.183_184insCAGCAG |
p.R61_E62insQQ |
InFrameInsertion |
2/33 |
- |
8-117864216-C-T |
RAD21 |
c.1441G>A |
p.G481R |
Missense |
11/14 |
- |
8-117864216-C-G |
RAD21 |
c.1441G>C |
p.G481R |
Missense |
11/14 |
- |
5-131923318-GCCT-G |
RAD50 |
c.821_823delCCT |
p.A274_L275delinsV |
MultiAAMissense |
6/25 |
- |
7-151879666-T-C |
KMT2C |
c.5279A>G |
p.K1760R |
Missense |
36/59 |
- |
15-43749151-T-C |
TP53BP1 |
c.1655A>G |
p.D552G |
Missense |
12/28 |
- |
3-185184675-A-G |
MAP3K13 |
c.1567A>G |
p.I523V |
Missense |
10/14 |
- |
1-228612824-A-T |
HIST3H3 |
c.203T>A |
p.F68Y |
Missense |
1/1 |
- |
1-45798488-C-A |
MUTYH |
c.439G>T |
p.A147S |
Missense |
7/16 |
- |
1-45798488-C-G |
MUTYH |
c.439G>C |
p.A147P |
Missense |
7/16 |
- |
19-14627367-T-C |
DNAJB1 |
c.703A>G |
p.I235V |
Missense |
2/3 |
- |
17-37880984-37880985---TACGTGATGGCT |
ERBB2 |
c.2314_2325dup |
p.Y772_A775dup |
inframe_insertion |
20/27 |
- |
17-37880981-37880982---GCATACGTGATG |
ERBB2 |
c.2313_2324dup |
p.Y772_A775dup |
inframe_insertion |
20/27 |
- |
20-31024810-C-G |
ASXL1 |
c.4295C>G |
p.S1432C |
Missense |
13/13 |
- |
X-47426758-G-A |
ARAF |
c.1003G>A |
p.V335M |
Missense |
10/16 |
- |
2-109352660-C-T |
RANBP2 |
c.737C>T |
p.T246M |
Missense |
6/29 |
- |
3-12422872-A-T |
PPARG |
c.278A>T |
p.Q91L |
Missense |
4/8 |
- |
5-67576804-A-G |
PIK3R1 |
c.886A>G |
p.T296A |
Missense |
7/16 |
- |
5-176520262-C-T |
FGFR4 |
c.1181C>T |
p.A394V |
Missense |
9/18 |
- |
13-28611358-C-T |
FLT3 |
c.1273G>A |
p.A425T |
Missense |
10/24 |
- |
15-43700206-G-C |
TP53BP1 |
c.5681C>G |
p.S1894C |
Missense |
27/28 |
- |
16-347839-C-T |
AXIN1 |
c.1667G>A |
p.R556H |
Missense |
6/11 |
- |
16-3646303-G-A |
SLX4 |
c.1775C>T |
p.T592I |
Missense |
8/15 |
- |
1-158597415-C-G |
SPTA1 |
c.5664G>C |
p.K1888N |
Missense |
40/52 |
- |
2-39241945-A-T |
SOS1 |
c.1901T>A |
p.F634Y |
Missense |
11/23 |
- |
12-12022865-C-T |
ETV6 |
c.971C>T |
p.P324L |
Missense |
5/8 |
- |
14-30108013-G-C |
PRKD1 |
c.794C>G |
p.S265C |
Missense |
5/18 |
- |
X-47041720-C-T |
RBM10 |
c.1945C>T |
p.Q649* |
Nonsense |
17/24 |
- |
17-41610670-C-A |
ETV4 |
c.430G>T |
p.G144C |
Missense |
7/13 |
- |
3-142172064-G-C |
ATR |
c.7667C>G |
p.T2556S |
Missense |
46/47 |
- |
4-187549736-A-G |
FAT1 |
c.4505T>C |
p.L1502P |
Missense |
8/27 |
- |
7-14027731-T-C |
ETV1 |
c.113A>G |
p.D38G |
Missense |
4/14 |
- |
8-38162787-C-G |
NSD3 |
c.2419G>C |
p.D807H |
Missense |
13/24 |
- |
10-70405575-A-G |
TET1 |
c.3089A>G |
p.N1030S |
Missense |
4/12 |
- |
12-57864355-G-A |
GLI1 |
c.1832G>A |
p.R611Q |
Missense |
12/12 |
- |
14-95584087-T-A |
DICER1 |
c.1381A>T |
p.I461L |
Missense |
9/27 |
- |
16-3900567-T-C |
CREBBP |
c.529A>G |
p.M177V |
Missense |
2/31 |
- |
17-17119805-C-A |
FLCN |
c.1189G>T |
p.V397L |
Missense |
11/14 |
- |
17-37872185-C-G |
ERBB2 |
c.1506C>G |
p.D502E |
Missense |
12/27 |
- |
15-42041927-G-A |
MGA |
c.6122G>A |
p.G2041D |
Missense |
17/24 |
- |
16-396226-A-C |
AXIN1 |
c.800T>G |
p.L267R |
Missense |
2/11 |
- |
17-56440960-G-A |
RNF43 |
c.377C>T |
p.A126V |
Missense |
4/10 |
- |
20-46271051-A-T |
NCOA3 |
c.3175A>T |
p.T1059S |
Missense |
17/23 |
- |
1-206943179-T-G |
IL10 |
c.439A>C |
p.N147H |
Missense |
4/5 |
- |
17-15961337-G-A |
NCOR1 |
c.6052C>T |
p.R2018* |
Nonsense |
39/46 |
- |
1-201983019-G-A |
ELF3 |
c.868G>A |
p.E290K |
Missense |
8/9 |
- |
5-223642-G-A |
SDHA |
c.109G>A |
p.V37I |
Missense |
2/15 |
- |
17-29486049-GAAAAAAATTTAT-G |
NF1 |
c.228_239del12 |
p.E76_Y80delinsD |
MultiAAMissense |
3/58 |
- |
2-26022303-ACTG-A |
ASXL2 |
c.351_353delCAG |
p.S118del |
InFrameDeletion |
5/13 |
- |
15-66782894-C-A |
MAP2K1 |
c.1123C>A |
p.L375I |
Missense |
11/11 |
- |
16-81944317-G-C |
PLCG2 |
c.1926G>C |
p.E642D |
Missense |
18/33 |
- |
19-18966027-A-G |
UPF1 |
c.1520A>G |
p.Y507C |
Missense |
11/24 |
- |
20-52198735-T-C |
ZNF217 |
c.631A>G |
p.I211V |
Missense |
2/6 |
- |
X-47044721-G-T |
RBM10 |
c.2121G>T |
p.Q707H |
Missense |
19/24 |
- |
2-109382140-C-A |
RANBP2 |
c.5145C>A |
p.S1715R |
Missense |
20/29 |
- |
3-189456493-C-T |
TP63 |
c.254C>T |
p.A85V |
Missense |
3/14 |
- |
5-112174667-A-G |
APC |
c.3376A>G |
p.S1126G |
Missense |
16/16 |
- |
6-89793532-C-A |
PNRC1 |
c.601C>A |
p.H201N |
Missense |
2/2 |
- |
10-112724451-T-C |
SHOC2 |
c.335T>C |
p.I112T |
Missense |
2/9 |
- |
12-6709736-G-A |
CHD4 |
c.1027C>T |
p.R343C |
Missense |
8/40 |
- |
18-19751256-G-A |
GATA6 |
c.151G>A |
p.E51K |
Missense |
2/7 |
- |
9-8499712-T-A |
PTPRD |
c.2257A>T |
p.R753W |
Missense |
25/46 |
- |
2-128030511-T-C |
ERCC3 |
c.1757A>G |
p.Q586R |
Missense |
11/15 |
- |
4-187542461-T-C |
FAT1 |
c.5279A>G |
p.D1760G |
Missense |
10/27 |
- |
12-498170-T-C |
KDM5A |
c.88A>G |
p.T30A |
Missense |
1/28 |
- |
14-30100188-T-G |
PRKD1 |
c.1432A>C |
p.K478Q |
Missense |
10/18 |
- |
17-78858937-A-T |
RPTOR |
c.1972A>T |
p.M658L |
Missense |
17/34 |
- |
12-133233799-T-C |
POLE |
c.3505A>G |
p.K1169E |
Missense |
29/49 |
- |
7-100417341-A-G |
EPHB4 |
c.1135T>C |
p.F379L |
Missense |
6/17 |
- |
3-119582406-C-T |
GSK3B |
c.956G>A |
p.R319H |
Missense |
9/11 |
- |
6-43746655-A-G |
VEGFA |
c.962A>G |
p.K321R |
Missense |
5/8 |
- |
15-43749166-T-C |
TP53BP1 |
c.1640A>G |
p.N547S |
Missense |
12/28 |
- |
16-56867142-C-T |
NUP93 |
c.1361C>T |
p.T454M |
Missense |
13/22 |
- |
6-112015659-C-G |
FYN |
c.1192G>C |
p.V398L |
Missense |
12/14 |
- |
11-111958617-A-C |
SDHD |
c.89A>C |
p.H30P |
Missense |
2/4 |
- |
16-72992112-A-T |
ZFHX3 |
c.1933T>A |
p.C645S |
Missense |
2/10 |
- |
1-158653225-G-A |
SPTA1 |
c.326C>T |
p.S109F |
Missense |
3/52 |
- |
20-52198817-C-A |
ZNF217 |
c.549G>T |
p.G183= |
Synonymous |
2/6 |
- |
16-72993299-C-G |
ZFHX3 |
c.746G>C |
p.G249A |
Missense |
2/10 |
- |
19-15281580-T-A |
NOTCH3 |
c.4793A>T |
p.D1598V |
Missense |
26/33 |
- |
16-72821343-T-G |
ZFHX3 |
c.10832A>C |
p.H3611P |
Missense |
10/10 |
- |
18-19752100-A-C |
GATA6 |
c.995A>C |
p.H332P |
Missense |
2/7 |
- |
3-30686280-A-C |
TGFBR2 |
c.136A>C |
p.K46Q |
Missense |
2/7 |
- |
5-38950118-A-G |
RICTOR |
c.3832T>C |
p.S1278P |
Missense |
31/38 |
- |
2-141812727-T-A |
LRP1B |
c.1510A>T |
p.R504W |
Missense |
10/91 |
- |
8-37691603-T-C |
ADGRA2 |
c.1565T>C |
p.I522T |
Missense |
11/19 |
- |
16-89839690-C-A |
FANCA |
c.2003G>T |
p.S668I |
Missense |
22/43 |
- |
19-50906399-G-T |
POLD1 |
c.1060G>T |
p.A354S |
Missense |
9/27 |
- |
7-2946463-G-A |
CARD11 |
c.3274C>T |
p.R1092* |
Nonsense |
25/25 |
- |
19-6590945-C-A |
CD70 |
c.69G>T |
p.L23F |
Missense |
1/3 |
- |
2-141083426-C-T |
LRP1B |
c.12245G>A |
p.S4082N |
Missense |
80/91 |
- |
3-49936338-G-A |
MST1R |
c.1510C>T |
p.R504C |
Missense |
3/20 |
- |
3-49934990-A-C |
MST1R |
c.2009T>G |
p.V670G |
Missense |
6/20 |
- |
5-86675607-T-C |
RASA1 |
c.2543T>C |
p.L848P |
Missense |
19/25 |
- |
2-47612335-T-G |
EPCAM |
c.889T>G |
p.Y297D |
Missense |
8/9 |
- |
7-100421477-G-A |
EPHB4 |
c.200C>T |
p.P67L |
Missense |
3/17 |
- |
7-100421460-G-C |
EPHB4 |
c.217C>G |
p.L73V |
Missense |
3/17 |
- |
10-90770309-A-G |
FAS |
c.457A>G |
p.I153V |
Missense |
5/9 |
- |
11-108114780-T-G |
ATM |
c.597T>G |
p.C199W |
Missense |
6/63 |
- |
12-49445089-C-T |
KMT2D |
c.2377G>A |
p.E793K |
Missense |
11/55 |
- |
12-49448725-C-T |
KMT2D |
c.134G>A |
p.S45N |
Missense |
3/55 |
- |
19-11015725-G-A |
CARM1 |
c.319G>A |
p.V107I |
Missense |
2/16 |
- |
11-118376161-C-T |
KMT2A |
c.9554C>T |
p.S3185L |
Missense |
27/36 |
- |
2-48032061-G-T |
MSH6 |
c.3451G>T |
p.A1151S |
Missense |
6/10 |
- |
5-180057053-C-T |
FLT4 |
c.566G>A |
p.R189Q |
Missense |
5/30 |
- |
6-94066470-A-G |
EPHA7 |
c.1289T>C |
p.L430P |
Missense |
5/17 |
- |
17-7578201-CACACTATGTCGA-C |
TP53 |
c.636_647del12 |
p.F212_V216delinsL |
MultiAAMissense |
6/11 |
- |
7-55242467-AATTAAGAGAAGCAACAT-TTG |
EGFR |
c.2237_2254delinsTTG |
p.E746_S752delinsVA |
MultiAAMissense |
19/28 |
- |
9-21971182-AC-TT |
CDKN2A |
c.175_176delinsAA |
p.V59K |
Missense |
2/3 |
- |
3-49725208-G-C |
MST1 |
c.217C>G |
p.R73G |
Missense |
2/18 |
- |
15-42019398-G-T |
MGA |
c.3451G>T |
p.E1151* |
Nonsense |
10/24 |
- |
20-52193094-G-A |
ZNF217 |
c.2209C>T |
p.P737S |
Missense |
4/6 |
- |
17-33433432-C-A |
RAD51D |
c.549G>T |
p.Q183H |
Missense |
6/10 |
- |
14-20823933-C-T |
PARP2 |
c.925C>T |
p.R309W |
Missense |
10/16 |
- |
8-145738094-G-A |
RECQL4 |
c.2816C>T |
p.A939V |
missense_variant |
17/22 |
- |
X-76939822-T-C |
ATRX |
c.926A>G |
p.Y309C |
Missense |
9/35 |
- |
1-193181207-G-T |
CDC73 |
c.1043G>T |
p.R348I |
Missense |
12/17 |
- |
5-112173554-A-G |
APC |
c.2263A>G |
p.R755G |
Missense |
16/16 |
- |
6-150001517-T-C |
LATS1 |
c.2087A>G |
p.K696R |
Missense |
5/8 |
- |
7-128843429-C-T |
SMO |
c.536C>T |
p.T179M |
Missense |
2/12 |
- |
9-110249774-C-G |
KLF4 |
c.901G>C |
p.A301P |
Missense |
3/5 |
- |
12-15722382-A-G |
PTPRO |
c.2779A>G |
p.I927V |
Missense |
19/27 |
- |
13-29041087-G-T |
FLT1 |
c.341C>A |
p.T114N |
Missense |
3/30 |
- |
8-38273437-G-T |
FGFR1 |
c.1805C>A |
p.S602Y |
Missense |
13/18 |
- |
16-30134511-T-A |
MAPK3 |
c.20A>T |
p.Q7L |
Missense |
1/9 |
- |
19-5246020-A-T |
PTPRS |
c.755T>A |
p.M252K |
Missense |
10/38 |
- |
1-120054205-C-G |
HSD3B1 |
c.225C>G |
p.D75E |
Missense |
3/4 |
- |
1-158631174-C-G |
SPTA1 |
c.2490G>C |
p.K830N |
Missense |
18/52 |
- |
8-41805294-C-G |
KAT6A |
c.1877G>C |
p.C626S |
Missense |
11/17 |
- |
8-69031688-T-G |
PREX2 |
c.3443T>G |
p.V1148G |
Missense |
28/40 |
- |
10-8105963-G-T |
GATA3 |
c.786G>T |
p.R262S |
Missense |
4/6 |
- |
11-118377037-C-A |
KMT2A |
c.10430C>A |
p.S3477Y |
Missense |
27/36 |
- |
13-28913392-G-C |
FLT1 |
c.2401C>G |
p.P801A |
Missense |
17/30 |
- |
15-41803485-C-T |
LTK |
c.874G>A |
p.E292K |
Missense |
7/20 |
- |
16-67662454-G-T |
CTCF |
c.1700G>T |
p.R567L |
Missense |
9/12 |
- |
18-60985745-T-A |
BCL2 |
c.155A>T |
p.Q52L |
Missense |
2/3 |
- |
19-50920313-G-A |
POLD1 |
c.3079G>A |
p.E1027K |
Missense |
25/27 |
- |
21-45651283-T-A |
ICOSLG |
c.742A>T |
p.S248C |
Missense |
5/7 |
- |
22-38379668-G-T |
SOX10 |
c.124C>A |
p.L42M |
Missense |
2/4 |
- |
1-243716188-T-C |
AKT3 |
c.1006A>G |
p.M336V |
Missense |
11/14 |
- |
14-75516166-C-G |
MLH3 |
c.193G>C |
p.D65H |
Missense |
2/13 |
- |
7-2969678-G-T |
CARD11 |
c.1601C>A |
p.A534D |
Missense |
12/25 |
- |
7-2969679-C-T |
CARD11 |
c.1600G>A |
p.A534T |
Missense |
12/25 |
- |
16-72830410-C-A |
ZFHX3 |
c.6171G>T |
p.Q2057H |
Missense |
9/10 |
- |
16-3789622-G-A |
CREBBP |
c.4237C>T |
p.H1413Y |
Missense |
25/31 |
- |
16-3639377-A-C |
SLX4 |
c.4262T>G |
p.I1421S |
Missense |
12/15 |
- |
2-29754893-C-T |
ALK |
c.1042G>A |
p.A348T |
Missense |
4/29 |
- |
2-227661669-C-G |
IRS1 |
c.1786G>C |
p.G596R |
Missense |
1/2 |
- |
5-176520202-C-T |
FGFR4 |
c.1121C>T |
p.A374V |
Missense |
9/18 |
- |
12-69968445-C-T |
FRS2 |
c.1237C>T |
p.R413W |
Missense |
9/9 |
- |
16-14041752-T-C |
ERCC4 |
c.2299T>C |
p.F767L |
Missense |
11/11 |
- |
17-7980421-C-T |
ALOX12B |
c.1162G>A |
p.A388T |
Missense |
9/15 |
- |
11-71942228-C-T |
INPPL1 |
c.1492C>T |
p.R498C |
Missense |
12/28 |
- |
1-2491358-A-G |
TNFRSF14 |
c.401A>G |
p.H134R |
Missense |
4/8 |
- |
15-91293039-A-G |
BLM |
c.541A>G |
p.S181G |
Missense |
3/22 |
- |
3-12475561-C-G |
PPARG |
c.1351C>G |
p.Q449E |
Missense |
8/8 |
- |
3-169953071-A-G |
PRKCI |
c.155A>G |
p.N52S |
Missense |
2/18 |
- |
4-1806195-G-T |
FGFR3 |
c.1214G>T |
p.G405V |
Missense |
9/18 |
- |
6-134494479-T-G |
SGK1 |
c.635A>C |
p.H212P |
Missense |
7/14 |
- |
12-49445732-C-G |
KMT2D |
c.1734G>C |
p.E578D |
Missense |
11/55 |
- |
8-37688342-G-A |
ADGRA2 |
c.833G>A |
p.R278H |
Missense |
7/19 |
- |
9-5069154-C-T |
JAK2 |
c.1459C>T |
p.R487C |
Missense |
11/25 |
- |
9-35075730-G-C |
FANCG |
c.1165C>G |
p.P389A |
Missense |
10/14 |
- |
11-118373677-C-G |
KMT2A |
c.7070C>G |
p.P2357R |
Missense |
27/36 |
- |
12-21644468-C-T |
RECQL |
c.199G>A |
p.A67T |
Missense |
3/15 |
- |
16-23649402-C-T |
PALB2 |
c.97G>A |
p.A33T |
Missense |
2/13 |
- |
21-45655232-C-T |
ICOSLG |
c.620G>A |
p.R207Q |
Missense |
4/7 |
- |
7-55087058-G-C |
EGFR |
c.88G>C |
p.V30L |
Missense |
1/28 |
- |
5-149497346-C-T |
PDGFRB |
c.2972G>A |
p.R991H |
Missense |
22/23 |
- |
7-6027012-T-C |
PMS2 |
c.1384A>G |
p.I462V |
Missense |
11/15 |
- |
9-93606448-C-A |
SYK |
c.268C>A |
p.H90N |
Missense |
2/14 |
- |
9-97876934-T-G |
FANCC |
c.1131A>C |
p.E377D |
Missense |
12/15 |
- |
9-93606269-T-C |
SYK |
c.89T>C |
p.V30A |
Missense |
2/14 |
- |
11-108196135-T-C |
ATM |
c.6671T>C |
p.M2224T |
Missense |
46/63 |
- |
7-6026969-C-T |
PMS2 |
c.1427G>A |
p.S476N |
Missense |
11/15 |
- |
17-7989447-GTCCTTGGGGAAGAAGGCGTAC-G |
ALOX12B |
c.219_239del21 |
p.Y74_D80del |
InFrameDeletion |
2/15 |
- |
19-18965834-CTCAACCACT-C |
UPF1 |
c.1412_1420delTCAACCACT |
p.L471_S474delinsP |
MultiAAMissense |
10/24 |
- |
4-55984811-CC-AT |
KDR |
c.317_318delinsAT |
p.R106H |
Missense |
3/30 |
- |
5-176518043-A-G |
FGFR4 |
c.541A>G |
p.T181A |
Missense |
5/18 |
- |
3-52661320-T-A |
PBRM1 |
c.1510A>T |
p.T504S |
Missense |
14/30 |
- |
16-14014110-G-C |
ERCC4 |
c.88G>C |
p.D30H |
Missense |
1/11 |
- |
9-137300095-T-C |
RXRA |
c.380T>C |
p.M127T |
Missense |
3/10 |
- |
2-242794121-T-TGGCTCC |
PDCD1 |
c.601_606dup |
p.G201_A202dup |
InFrameInsertion |
4/5 |
- |
3-12475471-C-G |
PPARG |
c.1261C>G |
p.L421V |
Missense |
8/8 |
- |
5-176520430-C-G |
FGFR4 |
c.1275C>G |
p.S425= |
Synonymous |
10/18 |
- |
5-176520430-C-T |
FGFR4 |
c.1275C>T |
p.S425= |
Synonymous |
10/18 |
- |
17-55704620-G-A |
MSI2 |
c.683G>A |
p.R228H |
Missense |
10/14 |
- |
15-41797609-C-A |
LTK |
c.1817G>T |
p.R606L |
Missense |
14/20 |
- |
12-92538121-G-C |
BTG1 |
c.251C>G |
p.A84G |
Missense |
2/2 |
- |
1-22181855-G-A |
HSPG2 |
c.5939C>T |
p.A1980V |
Missense |
47/97 |
- |
2-29754914-T-C |
ALK |
c.1021A>G |
p.S341G |
Missense |
4/29 |
- |
7-92244520-C-A |
CDK6 |
c.915G>T |
p.R305S |
Missense |
8/8 |
- |
10-50686456-G-A |
ERCC6 |
c.2230C>T |
p.R744W |
Missense |
11/21 |
- |
5-36976408-G-A |
NIPBL |
c.1399G>A |
p.D467N |
Missense |
9/47 |
- |
2-30143525-T-C |
ALK |
c.1A>G |
p.M1? |
Missense |
1/29 |
- |
19-15303035-C-T |
NOTCH3 |
c.415G>A |
p.D139N |
Missense |
4/33 |
- |
1-22207013-C-T |
HSPG2 |
c.2038G>A |
p.A680T |
Missense |
16/97 |
- |
X-47041678-G-T |
RBM10 |
c.1903G>T |
p.E635* |
Nonsense |
17/24 |
- |
13-21562631-T-G |
LATS2 |
c.1288A>C |
p.N430H |
Missense |
4/8 |
- |
16-3640872-T-A |
SLX4 |
c.2767A>T |
p.M923L |
Missense |
12/15 |
- |
17-48276804-C-T |
COL1A1 |
c.344G>A |
p.G115E |
Missense |
4/51 |
- |
18-61323100-C-T |
SERPINB3 |
c.964G>A |
p.G322S |
Missense |
8/8 |
- |
12-4479733-T-G |
FGF23 |
c.532A>C |
p.T178P |
Missense |
3/3 |
- |
2-190719076-C-T |
PMS1 |
c.1078C>T |
p.L360F |
Missense |
9/13 |
- |
8-56882302-G-A |
LYN |
c.1000G>A |
p.D334N |
Missense |
10/13 |
- |
9-133759429-G-C |
ABL1 |
c.1752G>C |
p.L584= |
Synonymous |
11/11 |
- |
11-108115597-A-G |
ATM |
c.745A>G |
p.I249V |
Missense |
7/63 |
- |
15-67473585-A-G |
SMAD3 |
c.665A>G |
p.Q222R |
Missense |
6/9 |
- |
16-341269-G-A |
AXIN1 |
c.2215C>T |
p.R739C |
Missense |
9/11 |
- |
3-72799483-G-T |
SHQ1 |
c.1686C>A |
p.N562K |
Missense |
11/11 |
- |
4-20544150-G-A |
SLIT2 |
c.2177G>A |
p.R726H |
Missense |
21/37 |
- |
5-161117341-C-T |
GABRA6 |
c.808C>T |
p.P270S |
Missense |
7/9 |
- |
9-127923140-C-T |
PPP6C |
c.217G>A |
p.D73N |
Missense |
3/7 |
- |
21-39755737-T-C |
ERG |
c.1028A>G |
p.D343G |
Missense |
10/10 |
- |
10-76781878-GGAAGAGGAT-G |
KAT6B |
c.3270_3278delTGAAGAGGA |
p.D1090_E1092del |
InFrameDeletion |
16/18 |
- |
4-41748118-CCCG-C |
PHOX2B |
c.648_650delCGG |
p.G217del |
InFrameDeletion |
3/3 |
- |
9-20365693-AAGCTGG-A |
MLLT3 |
c.1169_1174delCCAGCT |
p.S390_S391del |
InFrameDeletion |
6/11 |
- |
9-87338523-ACTGTGGAGGAAGGAAAGT-A |
NTRK2 |
c.622_639del18 |
p.V208_S213del |
InFrameDeletion |
7/19 |
- |
16-3778400-TTGC-T |
CREBBP |
c.6645_6647delGCA |
p.Q2216del |
InFrameDeletion |
31/31 |
- |
10-101544518-A-AAGC |
ABCC2 |
c.188_189insGCA |
p.K63_L64insQ |
InFrameInsertion |
2/32 |
- |
16-72821615-GCCACCG-A |
ZFHX3 |
c.10554_10560delinsT |
p.G3526_G3527del |
InFrameDeletion |
10/10 |
- |
4-41747944-GGGA-G |
PHOX2B |
c.822_824delTCC |
p.P275del |
InFrameDeletion |
3/3 |
- |
11-125497673-TCCA-T |
CHEK1 |
c.237_239delCCA |
p.Q80del |
InFrameDeletion |
3/13 |
- |
1-22206925-T-C |
HSPG2 |
c.2126A>G |
p.D709G |
Missense |
16/97 |
- |
8-26149336-A-G |
PPP2R2A |
c.1A>G |
p.M1? |
Missense |
1/10 |
- |
16-359996-G-A |
AXIN1 |
c.1093C>T |
p.R365W |
Missense |
4/11 |
- |
9-133759372-G-C |
ABL1 |
c.1695G>C |
p.E565D |
Missense |
11/11 |
- |
19-35831891-C-T |
CD22 |
c.1357C>T |
p.R453W |
Missense |
7/14 |
- |
2-109381515-A-C |
RANBP2 |
c.4520A>C |
p.K1507T |
Missense |
20/29 |
- |
2-109380129-C-T |
RANBP2 |
c.3134C>T |
p.T1045M |
Missense |
20/29 |
- |
6-32487258-C-A |
HLA-DRB5 |
c.541G>T |
p.D181Y |
Missense |
3/6 |
- |
6-32634287-C-A |
HLA-DQB1 |
c.98G>T |
p.R33I |
Missense |
1/5 |
- |
11-17743020-G-A |
MYOD1 |
c.928G>A |
p.G310S |
Missense |
3/3 |
- |
13-110436411-C-A |
IRS2 |
c.1990G>T |
p.G664C |
Missense |
1/2 |
- |
2-212251704-C-T |
ERBB4 |
c.3355G>A |
p.V1119I |
Missense |
27/28 |
- |
2-234669547-C-T |
UGT1A1 |
c.614C>T |
p.T205I |
Missense |
1/5 |
- |
2-212488723-T-C |
ERBB4 |
c.2126A>G |
p.Q709R |
Missense |
18/28 |
- |
8-145741388-C-G |
RECQL4 |
c.1115G>C |
p.R372T |
Missense |
5/22 |
- |
11-94178990-A-G |
MRE11 |
c.1853T>C |
p.M618T |
Missense |
16/20 |
- |
16-31146744-A-C |
PRSS8 |
c.76T>G |
p.S26A |
Missense |
1/6 |
- |
12-430171-C-T |
KDM5A |
c.2531G>A |
p.R844Q |
Missense |
18/28 |
- |
12-57860171-C-T |
GLI1 |
c.911C>T |
p.T304M |
Missense |
8/12 |
- |
16-3656667-G-A |
SLX4 |
c.568C>T |
p.P190S |
Missense |
3/15 |
- |
19-15288568-C-G |
NOTCH3 |
c.4171G>C |
p.A1391P |
Missense |
24/33 |
- |
4-187541170-C-A |
FAT1 |
c.6570G>T |
p.E2190D |
Missense |
10/27 |
- |
14-38061141-C-A |
FOXA1 |
c.848G>T |
p.G283V |
Missense |
2/2 |
- |
X-47041563-T-G |
RBM10 |
c.1788T>G |
p.Y596* |
Nonsense |
17/24 |
- |
10-123324026-A-T |
FGFR2 |
c.444T>A |
p.S148R |
Missense |
4/18 |
- |
12-123874060-A-T |
KMT5A |
c.91A>T |
p.M31L |
Missense |
2/8 |
- |
6-35420365-G-C |
FANCE |
c.43G>C |
p.E15Q |
Missense |
1/10 |
- |
3-47165554-G-A |
SETD2 |
c.572C>T |
p.P191L |
Missense |
3/21 |
- |
7-151860142-C-T |
KMT2C |
c.10520G>A |
p.R3507Q |
Missense |
43/59 |
- |
12-1040408-C-T |
RAD52 |
c.164G>A |
p.R55H |
Missense |
3/12 |
- |
12-56490398-G-A |
ERBB3 |
c.2167G>A |
p.V723M |
Missense |
18/28 |
- |
22-29091827-T-G |
CHEK2 |
c.1130A>C |
p.E377A |
Missense |
11/15 |
- |
22-30057255-C-G |
NF2 |
c.737C>G |
p.P246R |
Missense |
8/16 |
- |
X-47035920-C-T |
RBM10 |
c.598C>T |
p.Q200* |
Nonsense |
7/24 |
- |
17-40371414-T-G |
STAT5B |
c.749A>C |
p.D250A |
Missense |
7/19 |
- |
12-123874064-T-G |
KMT5A |
c.95T>G |
p.V32G |
Missense |
2/8 |
- |
16-72863756-C-A |
ZFHX3 |
c.3451G>T |
p.E1151* |
Nonsense |
5/10 |
- |
9-21818170-G-A |
MTAP |
c.316G>A |
p.D106N |
Missense |
4/8 |
- |
12-475204-G-A |
KDM5A |
c.433C>T |
p.R145C |
Missense |
4/28 |
- |
15-93496765-G-A |
CHD2 |
c.1681G>A |
p.V561I |
Missense |
14/39 |
- |
20-52193112-G-C |
ZNF217 |
c.2191C>G |
p.L731V |
Missense |
4/6 |
- |
1-16257012-T-C |
SPEN |
c.4277T>C |
p.L1426S |
Missense |
11/15 |
- |
9-5549514-C-T |
PDCD1LG2 |
c.541C>T |
p.R181C |
Missense |
4/7 |
- |
12-133237641-C-T |
POLE |
c.2974G>A |
p.A992T |
Missense |
25/49 |
- |
2-141946077-A-G |
LRP1B |
c.926T>C |
p.V309A |
Missense |
7/91 |
- |
9-87482334-A-C |
NTRK2 |
c.1621A>C |
p.K541Q |
Missense |
14/19 |
- |
14-30066702-T-G |
PRKD1 |
c.2429A>C |
p.H810P |
Missense |
16/18 |
- |
17-7216752-T-G |
GPS2 |
c.671A>C |
p.Q224P |
Missense |
8/11 |
- |
17-37619085-A-C |
CDK12 |
c.761A>C |
p.H254P |
Missense |
1/14 |
- |
19-42753064-G-C |
ERF |
c.1200C>G |
p.D400E |
Missense |
4/4 |
- |
1-149785140-T-C |
H3C13 |
c.97A>G |
p.T33A |
Missense |
1/1 |
- |
2-215645591-C-T |
BARD1 |
c.1007G>A |
p.C336Y |
Missense |
4/11 |
- |
9-27197397-C-T |
TEK |
c.1709C>T |
p.S570L |
Missense |
12/23 |
- |
11-100999132-C-T |
PGR |
c.670G>A |
p.E224K |
Missense |
1/8 |
- |
18-56390435-C-T |
MALT1 |
c.1174C>T |
p.R392C |
Missense |
10/17 |
- |
12-49431305-TTGC-T |
KMT2D |
c.9831_9833delGCA |
p.Q3282del |
InFrameDeletion |
35/55 |
- |
22-30032859-CAAG-C |
NF2 |
c.238_240delAAG |
p.K80del |
SpliceDonorDeletion |
2/16 |
- |
22-30032797-G-GAGCAGCAGCAGC |
NF2 |
c.173_174insGCAGCAGCAGCA |
p.E58_T59insQQQQ |
InFrameInsertion |
2/16 |
- |
4-106155335-CACA-C |
TET2 |
c.238_240delCAA |
p.Q80del |
InFrameDeletion |
3/11 |
- |
9-27157973-A-G |
TEK |
c.197A>G |
p.N66S |
Missense |
2/23 |
- |
10-123244937-C-T |
FGFR2 |
c.2167G>A |
p.D723N |
Missense |
16/18 |
- |
12-49447349-T-G |
KMT2D |
c.749A>C |
p.H250P |
Missense |
7/55 |
- |
7-151877845-G-T |
KMT2C |
c.7100C>A |
p.T2367K |
Missense |
36/59 |
- |
10-63850916-C-A |
ARID5B |
c.1694C>A |
p.T565N |
Missense |
10/10 |
- |
12-49425206-C-T |
KMT2D |
c.13282G>A |
p.A4428T |
Missense |
40/55 |
- |
16-89371740-C-T |
ANKRD11 |
c.100G>A |
p.V34I |
Missense |
4/13 |
- |
16-3779076-G-A |
CREBBP |
c.5972C>T |
p.P1991L |
Missense |
31/31 |
- |
17-37864680-A-G |
ERBB2 |
c.332A>G |
p.N111S |
Missense |
3/27 |
- |
1-118166506-G-A |
TENT5C |
c.1016G>A |
p.R339H |
Missense |
2/2 |
- |
2-112722768-G-T |
MERTK |
c.758G>T |
p.G253V |
Missense |
5/19 |
- |
7-128829133-C-A |
SMO |
c.141C>A |
p.S47R |
Missense |
1/12 |
- |
13-21620048-C-A |
LATS2 |
c.118G>T |
p.G40* |
Nonsense |
2/8 |
- |
20-9624949-C-A |
PAK5 |
c.28G>T |
p.E10* |
Nonsense |
3/10 |
- |
1-51439914-G-C |
CDKN2C |
c.479G>C |
p.G160A |
Missense |
2/2 |
- |
2-26022318-G-C |
ASXL2 |
c.339C>G |
p.N113K |
Missense |
5/13 |
- |
2-47630391-C-T |
MSH2 |
c.61C>T |
p.R21C |
Missense |
1/16 |
- |
3-51977429-C-G |
PARP3 |
c.79C>G |
p.R20G |
Missense |
2/11 |
- |
5-176637082-C-G |
NSD1 |
c.1682C>G |
p.S561C |
Missense |
5/23 |
- |
7-142643310-G-A |
KEL |
c.1298C>T |
p.P433L |
Missense |
11/19 |
- |
8-145738862-G-A |
RECQL4 |
c.2203C>T |
p.R735C |
Missense |
14/22 |
- |
16-3647516-G-A |
SLX4 |
c.1547C>T |
p.A516V |
Missense |
7/15 |
- |
19-1219396-G-A |
STK11 |
c.448G>A |
p.V150M |
Missense |
3/10 |
- |
1-162745495-T-C |
DDR2 |
c.1910T>C |
p.I637T |
Missense |
15/18 |
- |
1-246093200-G-A |
SMYD3 |
c.571C>T |
p.Q191* |
Nonsense |
6/12 |
- |
4-20618542-G-T |
SLIT2 |
c.3857G>T |
p.G1286V |
Missense |
35/37 |
- |
7-81386539-G-T |
HGF |
c.448C>A |
p.Q150K |
Missense |
4/18 |
- |
8-37690548-G-A |
ADGRA2 |
c.1118G>A |
p.G373D |
Missense |
9/19 |
- |
10-104592955-C-A |
CYP17A1 |
c.764G>T |
p.R255L |
Missense |
5/8 |
- |
11-102094429-T-A |
YAP1 |
c.1109T>A |
p.M370K |
Missense |
7/9 |
- |
14-38061009-C-A |
FOXA1 |
c.980G>T |
p.G327V |
Missense |
2/2 |
- |
17-29509630-G-C |
NF1 |
c.835G>C |
p.E279Q |
Missense |
8/58 |
- |
17-29541493-A-G |
NF1 |
c.1417A>G |
p.T473A |
Missense |
13/58 |
- |
20-41385221-C-A |
PTPRT |
c.740G>T |
p.R247L |
Missense |
6/31 |
- |
X-47424197-C-T |
ARAF |
c.202C>T |
p.R68* |
Nonsense |
4/16 |
- |
5-112176292-T-G |
APC |
c.5001T>G |
p.N1667K |
Missense |
16/16 |
- |
2-48025766-T-G |
MSH6 |
c.644T>G |
p.V215G |
Missense |
4/10 |
- |
3-189526270-C-A |
TP63 |
c.534C>A |
p.D178E |
Missense |
4/14 |
- |
16-23632749-A-G |
PALB2 |
c.3047T>C |
p.F1016S |
Missense |
10/13 |
- |
4-55129932-G-A |
PDGFRA |
c.466G>A |
p.E156K |
Missense |
4/23 |
- |
10-63852251-G-A |
ARID5B |
c.3029G>A |
p.R1010Q |
Missense |
10/10 |
- |
11-17741787-C-G |
MYOD1 |
c.458C>G |
p.A153G |
Missense |
1/3 |
- |
13-113887594-G-A |
CUL4A |
c.616G>A |
p.G206S |
Missense |
6/20 |
- |
14-30100011-G-T |
PRKD1 |
c.1609C>A |
p.Q537K |
Missense |
10/18 |
- |
12-120784095-G-A |
MSI1 |
c.890C>T |
p.P297L |
Missense |
13/15 |
- |
12-133241898-T-G |
POLE |
c.2458A>C |
p.M820L |
Missense |
21/49 |
- |
1-228612974-C-T |
H3-4 |
c.53G>A |
p.R18H |
Missense |
1/1 |
- |
12-49435770-C-A |
KMT2D |
c.6113G>T |
p.W2038L |
Missense |
30/55 |
- |
1-156851267-C-T |
NTRK1 |
c.2224C>T |
p.Q742* |
Nonsense |
17/17 |
- |
7-151879084-G-C |
KMT2C |
c.5861C>G |
p.S1954C |
Missense |
36/59 |
- |
11-111965590-G-T |
SDHD |
c.376G>T |
p.A126S |
Missense |
4/4 |
- |
2-25973044-A-C |
ASXL2 |
c.1381T>G |
p.S461A |
Missense |
12/13 |
- |
2-25973050-T-C |
ASXL2 |
c.1375A>G |
p.T459A |
Missense |
12/13 |
- |
2-26068408-G-C |
ASXL2 |
c.82C>G |
p.P28A |
Missense |
2/13 |
- |
15-43748774-C-A |
TP53BP1 |
c.2032G>T |
p.E678* |
Nonsense |
12/28 |
- |
12-1025806-G-C |
RAD52 |
c.724C>G |
p.R242G |
Missense |
8/12 |
- |
20-46255875-G-A |
NCOA3 |
c.487G>A |
p.E163K |
Missense |
6/23 |
- |
20-57478608-G-A |
GNAS |
c.280G>A |
p.D94N |
Missense |
4/13 |
- |
4-20568902-A-G |
SLIT2 |
c.2743A>G |
p.I915V |
Missense |
27/37 |
- |
X-39933151-G-A |
BCOR |
c.1448C>T |
p.P483L |
Missense |
4/15 |
- |
X-48649728-A-G |
GATA1 |
c.212A>G |
p.H71R |
Missense |
2/6 |
- |
2-25966378-G-C |
ASXL2 |
c.2828C>G |
p.T943S |
Missense |
13/13 |
- |
17-30323835-G-T |
SUZ12 |
c.1813G>T |
p.D605Y |
Missense |
15/16 |
- |
2-47705619-A-C |
MSH2 |
c.2419A>C |
p.T807P |
Missense |
14/16 |
- |
11-118390417-G-A |
KMT2A |
c.11231G>A |
p.R3744Q |
Missense |
32/36 |
- |
3-10128885-A-C |
FANCD2 |
c.3403A>C |
p.I1135L |
Missense |
34/44 |
- |
11-118342838-T-G |
KMT2A |
c.964T>G |
p.S322A |
Missense |
3/36 |
- |
9-133759851-G-T |
ABL1 |
c.2174G>T |
p.G725V |
Missense |
11/11 |
- |
9-133759718-T-C |
ABL1 |
c.2041T>C |
p.F681L |
Missense |
11/11 |
- |
5-176517436-C-T |
FGFR4 |
c.137C>T |
p.T46I |
Missense |
3/18 |
- |
7-55224510-G-A |
EGFR |
c.1192G>A |
p.V398I |
Missense |
10/28 |
- |
8-41906039-G-C |
KAT6A |
c.457C>G |
p.R153G |
Missense |
2/17 |
- |
16-3779022-C-G |
CREBBP |
c.6026G>C |
p.S2009T |
Missense |
31/31 |
- |
16-72829040-G-A |
ZFHX3 |
c.7541C>T |
p.T2514I |
Missense |
9/10 |
- |
17-29483115-A-C |
NF1 |
c.175A>C |
p.T59P |
Missense |
2/58 |
- |
2-227660807-GGCT-G |
IRS1 |
c.2645_2647delAGC |
p.Q882del |
InFrameDeletion |
1/2 |
- |
10-63851054-CGGA-C |
ARID5B |
c.1836_1838delGGA |
p.E612del |
InFrameDeletion |
10/10 |
- |
10-63850633-CAAGAAAAAG-C |
ARID5B |
c.1414_1422delGAAAAAGAA |
p.E472_E474del |
InFrameDeletion |
10/10 |
- |
X-110406205-GGAA-G |
PAK3 |
c.546_548delAGA |
p.E182del |
InFrameDeletion |
9/18 |
- |
15-42003382-ACAG-A |
MGA |
c.2931_2933delGCA |
p.Q981del |
InFrameDeletion |
8/24 |
- |
22-29130529-T-TCTGCTG |
CHEK2 |
c.180_181insCAGCAG |
p.L60_S61insQQ |
InFrameInsertion |
2/15 |
- |
12-49445425-A-G |
KMT2D |
c.2041T>C |
p.S681P |
Missense |
11/55 |
- |
2-25978959-A-C |
ASXL2 |
c.964T>G |
p.L322V |
Missense |
10/13 |
- |
15-41796358-A-G |
LTK |
c.2431T>C |
p.S811P |
Missense |
20/20 |
- |
1-156851285-C-A |
NTRK1 |
c.2242C>A |
p.R748= |
Synonymous |
17/17 |
- |
9-133759794-G-T |
ABL1 |
c.2117G>T |
p.G706V |
Missense |
11/11 |
- |
7-55248998-A-ATGGCCAGCG |
EGFR |
c.2300_2308dup |
p.A767_V769dup |
InFrameInsertion |
20/28 |
- |
1-45799120-C-A |
MUTYH |
c.229G>T |
p.D77Y |
Missense |
3/16 |
- |
1-45799120-C-G |
MUTYH |
c.229G>C |
p.D77H |
Missense |
3/16 |
- |
1-45799120-C-T |
MUTYH |
c.229G>A |
p.D77N |
Missense |
3/16 |
- |
2-141946086-C-A |
LRP1B |
c.917G>T |
p.R306L |
Missense |
7/91 |
- |
2-212566725-C-A |
ERBB4 |
c.1456G>T |
p.V486L |
Missense |
12/28 |
- |
3-10084285-G-T |
FANCD2 |
c.826G>T |
p.E276* |
Nonsense |
11/44 |
- |
3-38180417-G-A |
MYD88 |
c.265G>A |
p.D76N |
Missense |
1/5 |
- |
3-52621446-C-A |
PBRM1 |
c.2971G>T |
p.E991* |
Nonsense |
20/30 |
- |
4-55976869-A-T |
KDR |
c.1043T>A |
p.V348D |
Missense |
8/30 |
- |
5-57750553-C-G |
PLK2 |
c.1915G>C |
p.E639Q |
Missense |
14/14 |
- |
5-176637159-G-T |
NSD1 |
c.1759G>T |
p.G587C |
Missense |
5/23 |
- |
5-180055994-G-T |
FLT4 |
c.991C>A |
p.P331T |
Missense |
8/30 |
- |
7-81388023-G-T |
HGF |
c.352C>A |
p.L118I |
Missense |
3/18 |
- |
7-92355028-T-C |
CDK6 |
c.449A>G |
p.N150S |
Missense |
4/8 |
- |
7-100410605-C-A |
EPHB4 |
c.1882G>T |
p.E628* |
Nonsense |
12/17 |
- |
8-37692838-G-T |
ADGRA2 |
c.1755G>T |
p.E585D |
Missense |
12/19 |
- |
5-180030278-C-T |
FLT4 |
c.4006G>A |
p.E1336K |
Missense |
30/30 |
- |
7-81355326-G-A |
HGF |
c.1048C>T |
p.R350* |
Nonsense |
9/18 |
- |
9-27190589-A-C |
TEK |
c.1390A>C |
p.N464H |
Missense |
10/23 |
- |
14-95582861-T-C |
DICER1 |
c.1681A>G |
p.I561V |
Missense |
10/27 |
- |
16-23619239-G-T |
PALB2 |
c.3296C>A |
p.T1099K |
Missense |
12/13 |
- |
17-58678032-C-T |
PPM1D |
c.257C>T |
p.P86L |
Missense |
1/6 |
- |
19-50919036-G-A |
POLD1 |
c.2773G>A |
p.V925M |
Missense |
22/27 |
- |
15-43784559-C-T |
TP53BP1 |
c.115G>A |
p.D39N |
Missense |
2/28 |
- |
1-120491725-G-A |
NOTCH2 |
c.2504C>T |
p.A835V |
Missense |
16/34 |
- |
16-89877354-G-C |
FANCA |
c.409C>G |
p.L137V |
Missense |
4/43 |
- |
19-15276653-G-A |
NOTCH3 |
c.5612C>T |
p.S1871L |
Missense |
30/33 |
- |
15-93485147-T-G |
CHD2 |
c.788T>G |
p.I263S |
Missense |
8/39 |
- |
16-72821636-ACTG-A |
ZFHX3 |
c.10536_10538delCAG |
p.S3513del |
InFrameDeletion |
10/10 |
- |
16-72993868-CTCA-C |
ZFHX3 |
c.174_176delTGA |
p.N58_E59delinsK |
MultiAAMissense |
2/10 |
- |
7-55268955-GGACGACGTGGTGGAT-G |
EGFR |
c.3023_3037del15 |
p.D1008_D1012del |
InFrameDeletion |
25/28 |
- |
19-18273784-GG-CT |
PIK3R2 |
c.1117_1118delGGinsCT |
p.G373L |
Missense |
10/16 |
- |
10-104596877-AGCT-A |
CYP17A1 |
c.239_241delAGC |
p.Q80del |
InFrameDeletion |
1/8 |
- |
19-10292734-C-T |
DNMT1 |
c.100G>A |
p.D34N |
Missense |
2/41 |
- |
1-246078897-G-A |
SMYD3 |
c.748C>T |
p.R250W |
Missense |
8/12 |
- |
1-246078897-G-T |
SMYD3 |
c.748C>A |
p.R250= |
Synonymous |
8/12 |
- |
3-134851697-G-A |
EPHB1 |
c.1103G>A |
p.R368Q |
Missense |
5/16 |
- |
8-68982089-G-A |
PREX2 |
c.1463G>A |
p.R488H |
Missense |
13/40 |
- |
17-70120442-G-A |
SOX9 |
c.1444G>A |
p.D482N |
Missense |
3/3 |
- |
X-70343020-C-T |
MED12 |
c.1561C>T |
p.R521C |
Missense |
11/45 |
- |
9-80537225-T-A |
GNAQ |
c.173A>T |
p.Q58L |
Missense |
2/7 |
- |
2-242794872-C-T |
PDCD1 |
c.337G>A |
p.A113T |
Missense |
2/5 |
- |
16-81957157-G-A |
PLCG2 |
c.2375G>A |
p.R792H |
Missense |
22/33 |
- |
17-59871023-C-T |
BRIP1 |
c.1408G>A |
p.G470R |
Missense |
10/20 |
- |
19-1627410-C-T |
TCF3 |
c.314G>A |
p.R105Q |
Missense |
6/19 |
- |
19-13049543-C-G |
CALR |
c.50C>G |
p.A17G |
Missense |
1/9 |
- |
19-1621879-A-G |
TCF3 |
c.913T>C |
p.S305P |
Missense |
11/19 |
- |
2-215645691-C-T |
BARD1 |
c.907G>A |
p.V303I |
Missense |
4/11 |
- |
4-187541859-C-T |
FAT1 |
c.5881G>A |
p.G1961S |
Missense |
10/27 |
- |
5-176518758-G-A |
FGFR4 |
c.676G>A |
p.V226I |
Missense |
6/18 |
- |
7-151878479-T-C |
KMT2C |
c.6466A>G |
p.T2156A |
Missense |
36/59 |
- |
6-37138784-C-G |
PIM1 |
c.217C>G |
p.R73G |
Missense |
3/6 |
- |
15-38643531-G-A |
SPRED1 |
c.1001G>A |
p.R334H |
Missense |
7/7 |
- |
15-41988350-T-C |
MGA |
c.1142T>C |
p.I381T |
Missense |
3/24 |
- |
16-3633395-G-A |
SLX4 |
c.4856C>T |
p.P1619L |
Missense |
14/15 |
- |
6-37138981-G-A |
PIM1 |
c.321G>A |
p.L107= |
Synonymous |
4/6 |
- |
17-7983555-G-C |
ALOX12B |
c.752C>G |
p.S251C |
Missense |
6/15 |
- |
1-27106106-G-C |
ARID1A |
c.5717G>C |
p.R1906P |
Missense |
20/20 |
- |
6-89793584-A-G |
PNRC1 |
c.653A>G |
p.Y218C |
Missense |
2/2 |
- |
8-37689078-G-A |
ADGRA2 |
c.1070G>A |
p.R357H |
Missense |
8/19 |
- |
9-93627330-G-C |
SYK |
c.797G>C |
p.G266A |
Missense |
6/14 |
- |
16-89350760-C-A |
ANKRD11 |
c.2190G>T |
p.R730S |
Missense |
9/13 |
- |
17-29653164-A-G |
NF1 |
c.5162A>G |
p.H1721R |
Missense |
37/58 |
- |
1-27107009-A-T |
ARID1A |
c.6620A>T |
p.Q2207L |
Missense |
20/20 |
- |
2-16082915-G-T |
MYCN |
c.729G>T |
p.Q243H |
Missense |
2/3 |
- |
2-25505459-T-A |
DNMT3A |
c.299A>T |
p.Q100L |
Missense |
4/23 |
- |
2-215674179-C-T |
BARD1 |
c.115G>A |
p.A39T |
Missense |
1/11 |
- |
3-52582216-C-G |
PBRM1 |
c.4612G>C |
p.E1538Q |
Missense |
30/30 |
- |
4-106155177-G-T |
TET2 |
c.78G>T |
p.Q26H |
Missense |
3/11 |
- |
6-150001155-C-T |
LATS1 |
c.2449G>A |
p.E817K |
Missense |
5/8 |
- |
7-86416031-G-C |
GRM3 |
c.923G>C |
p.S308T |
Missense |
3/6 |
- |
9-98231266-G-A |
PTCH1 |
c.2017C>T |
p.H673Y |
Missense |
14/24 |
- |
10-63810730-A-G |
ARID5B |
c.817A>G |
p.N273D |
Missense |
5/10 |
- |
12-57861831-T-A |
GLI1 |
c.1132T>A |
p.S378T |
Missense |
10/12 |
- |
13-28622416-A-G |
FLT3 |
c.1201T>C |
p.Y401H |
Missense |
9/24 |
- |
13-29001378-G-T |
FLT1 |
c.1354C>A |
p.L452M |
Missense |
10/30 |
- |
13-32910747-A-T |
BRCA2 |
c.2255A>T |
p.D752V |
Missense |
11/27 |
- |
16-81934373-G-T |
PLCG2 |
c.1350G>T |
p.K450N |
Missense |
14/33 |
- |
4-41748004-CGCTGCCGCCGCCGCCGCTGCCGCGGCCGCCGCCGCTGCT-C |
PHOX2B |
c.726_764del39 |
p.A248_A260del |
InFrameDeletion |
3/3 |
- |
19-45854930-CTCT-C |
ERCC2 |
c.2238_2240delAGA |
p.E748del |
InFrameDeletion |
23/23 |
- |
19-45872195-AATC-A |
ERCC2 |
c.237_239delGAT |
p.E79_I80delinsD |
MultiAAMissense |
4/23 |
- |
3-51979069-CGAGGCCTTG-C |
PARP3 |
c.717_725delCTTGGAGGC |
p.A235_E237del |
InFrameDeletion |
6/11 |
- |
3-51981876-TTCG-T |
PARP3 |
c.1418_1420delTCG |
p.F466_D467delinsY |
MultiAAMissense |
10/11 |
- |
7-55242468-ATTAAGAGAAGCAACATCT-GCAA |
EGFR |
c.2238_2256delinsGCAA |
p.L747_S752delinsQ |
MultiAAMissense |
19/28 |
- |
17-30264502-TCCA-T |
SUZ12 |
c.237_239delCCA |
p.Q80del |
InFrameDeletion |
1/16 |
- |
9-87475976-GGGA-G |
NTRK2 |
c.1418_1420delGGA |
p.G473_K474delinsE |
MultiAAMissense |
13/19 |
- |
19-1622199-C-T |
TCF3 |
c.676G>A |
p.E226K |
Missense |
10/19 |
- |
19-13050265-C-G |
CALR |
c.217C>G |
p.R73G |
Missense |
3/9 |
- |
5-176517620-G-A |
FGFR4 |
c.321G>A |
p.M107I |
Missense |
3/18 |
- |
12-133212597-C-G |
POLE |
c.5692G>C |
p.E1898Q |
Missense |
42/49 |
- |
2-212248635-G-A |
ERBB4 |
c.3632C>T |
p.T1211I |
Missense |
28/28 |
- |
5-112175007-G-A |
APC |
c.3716G>A |
p.R1239K |
Missense |
16/16 |
- |
11-77043849-T-C |
PAK1 |
c.1477A>G |
p.I493V |
Missense |
14/15 |
- |
14-95593000-A-C |
DICER1 |
c.820T>G |
p.L274V |
Missense |
7/27 |
- |
15-42035253-G-A |
MGA |
c.5095G>A |
p.V1699I |
Missense |
15/24 |
- |
16-81946269-G-A |
PLCG2 |
c.2002G>A |
p.A668T |
Missense |
19/33 |
- |
19-2211146-T-C |
DOT1L |
c.1400T>C |
p.V467A |
Missense |
15/28 |
- |
19-42383204-C-G |
CD79A |
c.224C>G |
p.T75R |
Missense |
2/5 |
- |
7-140449206-T-G |
BRAF |
c.1873A>C |
p.I625L |
Missense |
16/18 |
- |
9-87317319-G-T |
NTRK2 |
c.344G>T |
p.S115I |
Missense |
4/19 |
- |
2-141143489-T-C |
LRP1B |
c.10504A>G |
p.S3502G |
Missense |
67/91 |
- |
1-150551373-T-C |
MCL1 |
c.634A>G |
p.T212A |
Missense |
1/3 |
- |
13-73337683-AT-A |
DIS3 |
c.2032delA |
p.I678Ffs*59 |
Frameshift |
16/21 |
- |
19-45854937-C-A |
ERCC2 |
c.2233G>T |
p.E745* |
Nonsense |
23/23 |
- |
19-18943167-GC-G |
UPF1 |
c.153delC |
p.G52Afs*42 |
Frameshift |
1/24 |
- |
19-1207064-T-TG |
STK11 |
c.157_157dup |
p.D53Gfs*110 |
Frameshift |
1/10 |
- |
X-47045664-CG-C |
RBM10 |
c.2545delG |
p.E849Sfs*37 |
Frameshift |
23/24 |
- |
1-120458389-CG-C |
NOTCH2 |
c.6956delC |
p.A2319Gfs*39 |
Frameshift |
34/34 |
- |
5-67589575-G-GA |
PIK3R1 |
c.1344_1344dup |
p.L449Ifs*3 |
Frameshift |
11/16 |
- |
17-40370235-TG-T |
STAT5B |
c.1102delC |
p.Q368Rfs*2 |
Frameshift |
9/19 |
- |
6-112386180-CA-C |
CCN6 |
c.625delA |
p.S191Afs*41 |
Frameshift |
3/5 |
- |
7-142658485-G-GA |
KEL |
c.184_184dup |
p.S62Ffs*17 |
Frameshift |
3/19 |
- |
X-47044927-AG-A |
RBM10 |
c.2253delG |
p.K752Sfs*50 |
Frameshift |
20/24 |
- |
16-72822591-G-GA |
ZFHX3 |
c.9583_9584insT |
p.P3195Lfs*44 |
Frameshift |
10/10 |
- |
16-72822586-G-GCT |
ZFHX3 |
c.9588_9589insAG |
p.Q3197Sfs*45 |
Frameshift |
10/10 |
- |
11-125505377-G-GA |
CHEK1 |
c.676_676dup |
p.T226Nfs*19 |
Frameshift |
7/13 |
- |
2-220439653-TG-T |
INHA |
c.509delG |
p.G170Afs*20 |
Frameshift |
2/2 |
- |
12-57860073-C-CT |
GLI1 |
c.814_814dup |
p.W272Lfs*35 |
Frameshift |
8/12 |
- |
7-13975472-TG-T |
ETV1 |
c.414delC |
p.T139Hfs*116 |
Frameshift |
8/14 |
- |
11-118344185-AC-A |
KMT2A |
c.2318delC |
p.P773Rfs*8 |
Frameshift |
3/36 |
- |
5-79970914-C-CA |
MSH3 |
c.1148_1148dup |
p.N385Qfs*19 |
Frameshift |
7/24 |
- |
12-21644546-CT-C |
RECQL |
c.120delA |
p.V41Sfs*2 |
Frameshift |
3/15 |
- |
7-41730027-TG-T |
INHBA |
c.501delC |
p.R168Gfs*30 |
Frameshift |
3/3 |
- |
7-116403235-T-TC |
MET |
c.2497_2497dup |
p.L833Pfs*6 |
Frameshift |
11/21 |
- |
16-72991350-TG-T |
ZFHX3 |
c.2694delC |
p.M899Wfs*4 |
Frameshift |
2/10 |
- |
10-123239508-CGA-C |
FGFR2 |
c.2327_2328delTC |
p.L776Rfs*6 |
Frameshift |
18/18 |
- |
1-27023830-CG-C |
ARID1A |
c.941delG |
p.G314Afs*49 |
Frameshift |
1/20 |
- |
12-49420203-G-GC |
KMT2D |
c.15545_15545dup |
p.L5183Pfs*16 |
Frameshift |
49/55 |
- |
17-38546380-C-CT |
TOP2A |
c.4303_4303dup |
p.R1435Kfs*8 |
Frameshift |
34/35 |
- |
5-112177176-TG-T |
APC |
c.5885delG |
p.C1962Sfs*8 |
Frameshift |
16/16 |
- |
10-101578637-CCT-C |
ABCC2 |
c.2362_2363delCT |
p.L788Vfs*13 |
Frameshift |
18/32 |
- |
17-38512368-CCGGGGGGTGGGGGGCGGGA-C |
RARA |
c.1286_1304del19 |
p.G429Vfs*208 |
Frameshift |
9/9 |
- |
7-55242467-GAA-G |
EGFR |
c.2237_2238delAA |
p.E746Vfs*16 |
Frameshift |
19/28 |
- |
3-49927458-GT-G |
MST1R |
c.3846delA |
p.R1283Gfs*37 |
Frameshift |
19/20 |
- |
1-36937051-AC-A |
CSF3R |
c.1267delG |
p.V423Sfs*10 |
Frameshift |
10/17 |
- |
3-142188348-TCTGTGATAAC-T |
ATR |
c.6373_6382delGTTATCACAG |
p.V2125Sfs*6 |
Frameshift |
38/47 |
- |
3-10084281-A-AT |
FANCD2 |
c.824_824dup |
p.L275Ffs*22 |
Frameshift |
11/44 |
- |
X-47039288-TGCGCAACCTGAACCCACACA-T |
RBM10 |
c.914_933del20 |
p.R305Hfs*69 |
Frameshift |
10/24 |
- |
2-141128388-CCTTACATTCAGTCACACAG-C |
LRP1B |
c.10881_10899del19 |
p.D3627Efs*123 |
Frameshift |
71/91 |
- |
2-227661663-GC-G |
IRS1 |
c.1791delG |
p.H598Tfs*38 |
Frameshift |
1/2 |
- |
2-227661663-G-GC |
IRS1 |
c.1791_1791dup |
p.H598Afs*13 |
Frameshift |
1/2 |
- |
17-41610700-TG-T |
ETV4 |
c.399delC |
p.R134Dfs*30 |
Frameshift |
7/13 |
- |
12-121416708-AG-A |
HNF1A |
c.142delG |
p.E48Sfs*107 |
Frameshift |
1/10 |
- |
7-151848069-CCT-C |
KMT2C |
c.12688_12689delAG |
p.R4230Gfs*9 |
Frameshift |
51/59 |
- |
5-131944381-C-CA |
RAD50 |
c.2801_2801dup |
p.N934Kfs*10 |
Frameshift |
17/25 |
- |
8-68992720-G-GT |
PREX2 |
c.1693_1693dup |
p.S565Ffs*3 |
Frameshift |
16/40 |
- |
7-151874147-C-CT |
KMT2C |
c.8390_8390dup |
p.E2798Gfs*11 |
Frameshift |
38/59 |
- |
12-21644546-C-CA |
RECQL |
c.120_121insT |
p.V41Cfs*14 |
Frameshift |
3/15 |
- |