7-81332000-C-T |
HGF |
c.2084G>A |
p.R695H |
Missense |
18/18 |
- |
17-7579311-C-T |
TP53 |
c.375+1G>A |
- |
IntronicSNV |
- |
4/10 |
7-55242470-T-C |
EGFR |
c.2240T>C |
p.L747S |
Missense |
19/28 |
- |
2-234669619-C-A |
UGT1A1 |
c.686C>A |
p.P229Q |
Missense |
1/5 |
- |
2-234669144-G-A |
UGT1A1 |
c.211G>A |
p.G71R |
Missense |
1/5 |
- |
15-66729181-A-G |
MAP2K1 |
c.389A>G |
p.Y130C |
Missense |
3/11 |
- |
4-1806119-G-C |
FGFR3 |
c.1138G>C |
p.G380R |
Missense |
9/18 |
- |
6-18139228-C-T |
TPMT |
c.460G>A |
p.A154T |
Missense |
6/9 |
- |
17-7578205-C-A |
TP53 |
c.644G>T |
p.S215I |
Missense |
6/11 |
- |
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 |
- |
5-112174665-T-C |
APC |
c.3374T>C |
p.V1125A |
Missense |
16/16 |
- |
5-112174669-C-G |
APC |
c.3378C>G |
p.S1126R |
Missense |
16/16 |
- |
17-7578271-T-G |
TP53 |
c.578A>C |
p.H193P |
Missense |
6/11 |
- |
17-7578235-T-A |
TP53 |
c.614A>T |
p.Y205F |
Missense |
6/11 |
- |
17-7577556-C-A |
TP53 |
c.725G>T |
p.C242F |
Missense |
7/11 |
- |
6-32188943-G-A |
NOTCH4 |
c.611C>T |
p.P204L |
Missense |
4/30 |
- |
17-7578478-G-C |
TP53 |
c.452C>G |
p.P151R |
Missense |
5/11 |
- |
6-18130918-T-C |
TPMT |
c.719A>G |
p.Y240C |
Missense |
9/9 |
- |
1-97915624-A-G |
DPYD |
c.1896T>C |
p.F632= |
Synonymous |
14/23 |
- |
2-215632255-C-A |
BARD1 |
c.1519G>T |
p.V507L |
Missense |
6/11 |
- |
2-215632255-C-T |
BARD1 |
c.1519G>A |
p.V507M |
Missense |
6/11 |
- |
7-55242469-TT-CC |
EGFR |
c.2239_2240delTTinsCC |
p.L747P |
Missense |
19/28 |
- |
16-2121610-G-A |
TSC2 |
c.1939G>A |
p.D647N |
Missense |
18/42 |
- |
16-2130189-G-A |
TSC2 |
c.3421G>A |
p.A1141T |
Missense |
30/42 |
- |
17-7577099-C-G |
TP53 |
c.839G>C |
p.R280T |
Missense |
8/11 |
- |
9-135797253-G-C |
TSC1 |
c.616C>G |
p.H206D |
Missense |
7/23 |
- |
17-7577560-A-C |
TP53 |
c.721T>G |
p.S241A |
Missense |
7/11 |
- |
9-21971199-C-G |
CDKN2A |
c.159G>C |
p.M53I |
Missense |
2/3 |
- |
17-7578239-C-A |
TP53 |
c.610G>T |
p.E204* |
Nonsense |
6/11 |
- |
17-7577090-C-G |
TP53 |
c.848G>C |
p.R283P |
Missense |
8/11 |
- |
22-42526694-G-A |
CYP2D6 |
c.100C>T |
p.P34S |
Missense |
1/9 |
- |
3-41266113-C-G |
CTNNB1 |
c.110C>G |
p.S37C |
Missense |
3/15 |
- |
13-32954180-C-T |
BRCA2 |
c.9154C>T |
p.R3052W |
Missense |
24/27 |
- |
1-97981395-T-C |
DPYD |
c.1627A>G |
p.I543V |
Missense |
13/23 |
- |
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 |
- |
19-48664717-G-A |
LIG1 |
c.155C>T |
p.P52L |
Missense |
4/28 |
- |
13-32893361-A-G |
BRCA2 |
c.215A>G |
p.N72S |
Missense |
3/27 |
- |
17-41245262-T-A |
BRCA1 |
c.2286A>T |
p.R762S |
Missense |
10/23 |
- |
17-41246512-G-A |
BRCA1 |
c.1036C>T |
p.P346S |
Missense |
10/23 |
- |
19-1220640-C-T |
STK11 |
c.658C>T |
p.Q220* |
Nonsense |
5/10 |
- |
19-1220382-C-T |
STK11 |
c.475C>T |
p.Q159* |
Nonsense |
4/10 |
- |
7-140481411-C-A |
BRAF |
c.1397G>T |
p.G466V |
Missense |
11/18 |
- |
7-55241678-A-C |
EGFR |
c.2126A>C |
p.E709A |
Missense |
18/28 |
- |
7-55242469-TTAAGAGAAG-C |
EGFR |
c.2239_2248delinsC |
p.L747_A750delinsP |
MultiAAMissense |
19/28 |
- |
7-55242469-TTAAGAGAAGCAA-C |
EGFR |
c.2239_2251delinsC |
p.L747_T751delinsP |
MultiAAMissense |
19/28 |
- |
17-7578427-T-C |
TP53 |
c.503A>G |
p.H168R |
Missense |
5/11 |
- |
3-41266101-C-A |
CTNNB1 |
c.98C>A |
p.S33Y |
Missense |
3/15 |
- |
3-41266101-C-T |
CTNNB1 |
c.98C>T |
p.S33F |
Missense |
3/15 |
- |
13-32931957-G-T |
BRCA2 |
c.7696G>T |
p.D2566Y |
Missense |
16/27 |
- |
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 |
- |
7-55241679-AAAC-A |
EGFR |
c.2127_2129delAAC |
p.E709_T710delinsD |
MultiAAMissense |
18/28 |
- |
4-110908981-T-G |
EGF |
c.2573T>G |
p.L858W |
Missense |
17/24 |
- |
17-7577536-T-C |
TP53 |
c.745A>G |
p.R249G |
Missense |
7/11 |
- |
21-36164601-G-A |
RUNX1 |
c.1274C>T |
p.P425L |
Missense |
9/9 |
- |
17-7578235-T-C |
TP53 |
c.614A>G |
p.Y205C |
Missense |
6/11 |
- |
17-7578211-C-A |
TP53 |
c.638G>T |
p.R213L |
Missense |
6/11 |
- |
3-178917478-G-A |
PIK3CA |
c.353G>A |
p.G118D |
Missense |
3/21 |
- |
9-21974751-C-A |
CDKN2A |
c.76G>T |
p.E26* |
Nonsense |
1/3 |
- |
2-29446307-G-A |
ALK |
c.3260C>T |
p.T1087I |
Missense |
20/29 |
- |
17-7578479-G-A |
TP53 |
c.451C>T |
p.P151S |
Missense |
5/11 |
- |
17-7577545-T-C |
TP53 |
c.736A>G |
p.M246V |
Missense |
7/11 |
- |
17-7577118-C-A |
TP53 |
c.820G>T |
p.V274F |
Missense |
8/11 |
- |
7-6045597-T-G |
PMS2 |
c.89A>C |
p.Q30P |
Missense |
2/15 |
- |
7-6042169-C-T |
PMS2 |
c.452G>A |
p.R151H |
Missense |
5/15 |
- |
17-7579414-C-T |
TP53 |
c.273G>A |
p.W91* |
Nonsense |
4/11 |
- |
17-7577547-C-A |
TP53 |
c.734G>T |
p.G245V |
Missense |
7/11 |
- |
17-7578478-G-T |
TP53 |
c.452C>A |
p.P151H |
Missense |
5/11 |
- |
17-7577100-T-C |
TP53 |
c.838A>G |
p.R280G |
Missense |
8/11 |
- |
17-7577106-G-A |
TP53 |
c.832C>T |
p.P278S |
Missense |
8/11 |
- |
17-59876546-G-A |
BRIP1 |
c.1255C>T |
p.R419W |
Missense |
9/20 |
- |
3-178952072-A-G |
PIK3CA |
c.3127A>G |
p.M1043V |
Missense |
21/21 |
- |
7-140481417-C-A |
BRAF |
c.1391G>T |
p.G464V |
Missense |
11/18 |
- |
3-178952074-G-C |
PIK3CA |
c.3129G>C |
p.M1043I |
Missense |
21/21 |
- |
17-7578211-C-T |
TP53 |
c.638G>A |
p.R213Q |
Missense |
6/11 |
- |
17-7577108-C-A |
TP53 |
c.830G>T |
p.C277F |
Missense |
8/11 |
- |
7-55241617-G-T |
EGFR |
c.2065G>T |
p.V689L |
Missense |
18/28 |
- |
17-7577548-C-A |
TP53 |
c.733G>T |
p.G245C |
Missense |
7/11 |
- |
11-108098555-A-G |
ATM |
c.125A>G |
p.H42R |
Missense |
3/63 |
- |
16-23641340-G-A |
PALB2 |
c.2135C>T |
p.A712V |
Missense |
5/13 |
- |
13-48955431-G-A |
RB1 |
c.1547G>A |
p.W516* |
Nonsense |
17/27 |
- |
17-7577538-C-G |
TP53 |
c.743G>C |
p.R248P |
Missense |
7/11 |
- |
X-76907781-TTCC-T |
ATRX |
c.4377_4379delGGA |
p.E1464del |
InFrameDeletion |
15/35 |
- |
17-7577114-C-A |
TP53 |
c.824G>T |
p.C275F |
Missense |
8/11 |
- |
17-7578469-C-A |
TP53 |
c.461G>T |
p.G154V |
Missense |
5/11 |
- |
17-7577127-C-A |
TP53 |
c.811G>T |
p.E271* |
Nonsense |
8/11 |
- |
17-7574026-C-A |
TP53 |
c.1001G>T |
p.G334V |
Missense |
10/11 |
- |
17-7578280-G-A |
TP53 |
c.569C>T |
p.P190L |
Missense |
6/11 |
- |
17-7574012-C-A |
TP53 |
c.1015G>T |
p.E339* |
Nonsense |
10/11 |
- |
5-112175951-G-GA |
APC |
c.4666_4666dupA |
p.T1556Nfs*3 |
Frameshift |
16/16 |
- |
3-53531239-C-T |
CACNA1D |
c.128C>T |
p.P43L |
Missense |
2/48 |
- |
10-123258034-A-C |
FGFR2 |
c.1647T>G |
p.N549K |
Missense |
12/18 |
- |
10-123258034-A-T |
FGFR2 |
c.1647T>A |
p.N549K |
Missense |
12/18 |
- |
10-123260370-C-T |
FGFR2 |
c.1531G>A |
p.A511T |
Missense |
11/18 |
- |
10-123274833-G-A |
FGFR2 |
c.1085C>T |
p.A362V |
Missense |
9/18 |
- |
12-49425022-C-T |
KMT2D |
c.13466G>A |
p.G4489E |
Missense |
40/55 |
- |
7-81359056-G-T |
HGF |
c.905C>A |
p.T302K |
Missense |
8/18 |
- |
4-1801001-G-A |
FGFR3 |
c.130G>A |
p.G44S |
Missense |
3/18 |
- |
4-1795748-G-C |
FGFR3 |
c.87G>C |
p.Q29H |
Missense |
2/18 |
- |
12-49446160-C-T |
KMT2D |
c.1306G>A |
p.E436K |
Missense |
11/55 |
- |
7-81381528-C-T |
HGF |
c.533G>A |
p.R178Q |
Missense |
5/18 |
- |
10-8100631-G-A |
GATA3 |
c.605G>A |
p.R202H |
Missense |
3/6 |
- |
12-49426345-G-A |
KMT2D |
c.12143C>T |
p.P4048L |
Missense |
40/55 |
- |
8-38274887-T-C |
FGFR1 |
c.1600A>G |
p.M534V |
Missense |
12/18 |
- |
4-1806192-A-G |
FGFR3 |
c.1211A>G |
p.K404R |
Missense |
9/18 |
- |
4-1807385-G-C |
FGFR3 |
c.1634G>C |
p.C545S |
Missense |
12/18 |
- |
4-1807167-G-A |
FGFR3 |
c.1498G>A |
p.A500T |
Missense |
11/18 |
- |
4-1807488-G-C |
FGFR3 |
c.1657G>C |
p.V553L |
Missense |
13/18 |
- |
4-1807545-C-T |
FGFR3 |
c.1714C>T |
p.P572S |
Missense |
13/18 |
- |
7-116436149-C-T |
MET |
c.4144C>T |
p.R1382* |
Nonsense |
21/21 |
- |
12-49441822-G-A |
KMT2D |
c.4162C>T |
p.R1388W |
Missense |
15/55 |
- |
12-49418454-C-T |
KMT2D |
c.15959G>A |
p.R5320H |
Missense |
51/55 |
- |
7-116339633-G-C |
MET |
c.495G>C |
p.Q165H |
Missense |
2/21 |
- |
12-49443502-C-T |
KMT2D |
c.3869G>A |
p.R1290Q |
Missense |
12/55 |
- |
7-116339635-T-C |
MET |
c.497T>C |
p.I166T |
Missense |
2/21 |
- |
7-116340251-C-A |
MET |
c.1113C>A |
p.N371K |
Missense |
2/21 |
- |
12-49431759-C-T |
KMT2D |
c.9380G>A |
p.R3127H |
Missense |
35/55 |
- |
7-116339755-T-C |
MET |
c.617T>C |
p.F206S |
Missense |
2/21 |
- |
22-30032795-G-A |
NF2 |
c.170G>A |
p.R57Q |
Missense |
2/16 |
- |
7-116340330-T-C |
MET |
c.1192T>C |
p.F398L |
Missense |
2/21 |
- |
6-18139802-A-T |
TPMT |
c.419+94T>A |
- |
IntronicSNV |
- |
5/8 |
18-48591919-G-A |
SMAD4 |
c.1082G>A |
p.R361H |
Missense |
9/12 |
- |
17-7578404-A-T |
TP53 |
c.526T>A |
p.C176S |
Missense |
5/11 |
- |
17-7577536-T-A |
TP53 |
c.745A>T |
p.R249W |
Missense |
7/11 |
- |
17-7577574-T-C |
TP53 |
c.707A>G |
p.Y236C |
Missense |
7/11 |
- |
17-7578266-T-A |
TP53 |
c.583A>T |
p.I195F |
Missense |
6/11 |
- |
17-7578271-T-A |
TP53 |
c.578A>T |
p.H193L |
Missense |
6/11 |
- |
17-7577551-C-A |
TP53 |
c.730G>T |
p.G244C |
Missense |
7/11 |
- |
17-37880261-G-T |
ERBB2 |
c.2305G>T |
p.D769Y |
Missense |
19/27 |
- |
17-7578407-G-C |
TP53 |
c.523C>G |
p.R175G |
Missense |
5/11 |
- |
17-7577569-A-T |
TP53 |
c.712T>A |
p.C238S |
Missense |
7/11 |
- |
17-7579415-C-T |
TP53 |
c.272G>A |
p.W91* |
Nonsense |
4/11 |
- |
9-98212185-C-T |
PTCH1 |
c.3487G>A |
p.G1163S |
Missense |
21/24 |
- |
17-7578388-C-G |
TP53 |
c.542G>C |
p.R181P |
Missense |
5/11 |
- |
18-48591918-C-T |
SMAD4 |
c.1081C>T |
p.R361C |
Missense |
9/12 |
- |
17-7578529-A-C |
TP53 |
c.401T>G |
p.F134C |
Missense |
5/11 |
- |
17-7578443-A-T |
TP53 |
c.487T>A |
p.Y163N |
Missense |
5/11 |
- |
3-178936083-A-G |
PIK3CA |
c.1625A>G |
p.E542G |
Missense |
10/21 |
- |
17-62006798-T-G |
CD79B |
c.587A>C |
p.Y196S |
Missense |
5/6 |
- |
3-178936091-G-C |
PIK3CA |
c.1633G>C |
p.E545Q |
Missense |
10/21 |
- |
17-7577093-C-G |
TP53 |
c.845G>C |
p.R282P |
Missense |
8/11 |
- |
17-7577129-A-C |
TP53 |
c.809T>G |
p.F270C |
Missense |
8/11 |
- |
10-43607597-C-T |
RET |
c.1573C>T |
p.R525W |
Missense |
8/20 |
- |
10-96609771-G-A |
CYP2C19 |
c.1247G>A |
p.G416D |
Missense |
8/9 |
- |
9-21971186-G-A |
CDKN2A |
c.172C>T |
p.R58* |
Nonsense |
2/3 |
- |
5-67592076-G-A |
PIK3R1 |
c.1892G>A |
p.R631Q |
Missense |
15/16 |
- |
7-55242467-AATTAAGAGAAGCAACATC-T |
EGFR |
c.2237_2255delinsT |
p.E746_S752delinsV |
MultiAAMissense |
19/28 |
- |
1-97915746-G-A |
DPYD |
c.1774C>T |
p.R592W |
Missense |
14/23 |
- |
16-23641218-G-A |
PALB2 |
c.2257C>T |
p.R753* |
Nonsense |
5/13 |
- |
17-7578392-C-T |
TP53 |
c.538G>A |
p.E180K |
Missense |
5/11 |
- |
17-7577096-T-A |
TP53 |
c.842A>T |
p.D281V |
Missense |
8/11 |
- |
10-96612495-C-T |
CYP2C19 |
c.1297C>T |
p.R433W |
Missense |
9/9 |
- |
10-96535210-G-A |
CYP2C19 |
c.395G>A |
p.R132Q |
Missense |
3/9 |
- |
17-7577058-C-A |
TP53 |
c.880G>T |
p.E294* |
Nonsense |
8/11 |
- |
2-198267483-C-T |
SF3B1 |
c.1874G>A |
p.R625H |
Missense |
14/25 |
- |
11-119149245-T-C |
CBL |
c.1253T>C |
p.F418S |
Missense |
9/16 |
- |
15-66782095-A-C |
MAP2K1 |
c.1062A>C |
p.Q354H |
Missense |
10/11 |
- |
7-142460750-G-C |
PRSS1 |
c.623G>C |
p.G208A |
Missense |
5/5 |
- |
17-7578177-C-T |
TP53 |
c.672G>A |
p.E224= |
Synonymous |
6/11 |
- |
5-35871238-C-T |
IL7R |
c.460C>T |
p.H154Y |
Missense |
4/8 |
- |
21-44524486-A-G |
U2AF1 |
c.71T>C |
p.I24T |
Missense |
2/8 |
- |
3-47098379-C-T |
SETD2 |
c.6895G>A |
p.G2299R |
Missense |
15/21 |
- |
19-11097111-A-T |
SMARCA4 |
c.602A>T |
p.Q201L |
Missense |
4/35 |
- |
7-151932949-C-A |
KMT2C |
c.2722G>T |
p.G908C |
Missense |
16/59 |
- |
17-40474420-C-A |
STAT3 |
c.1981G>T |
p.D661Y |
Missense |
21/24 |
- |
2-178098953-C-A |
NFE2L2 |
c.92G>T |
p.G31V |
Missense |
2/5 |
- |
2-178098954-C-T |
NFE2L2 |
c.91G>A |
p.G31R |
Missense |
2/5 |
- |
2-178098954-C-G |
NFE2L2 |
c.91G>C |
p.G31R |
Missense |
2/5 |
- |
16-23649272-C-T |
PALB2 |
c.110G>A |
p.R37H |
Missense |
3/13 |
- |
17-7578542-G-C |
TP53 |
c.388C>G |
p.L130V |
Missense |
5/11 |
- |
16-2134572-C-G |
TSC2 |
c.4349C>G |
p.P1450R |
Missense |
34/42 |
- |
2-25467448-C-G |
DNMT3A |
c.1628G>C |
p.G543A |
Missense |
14/23 |
- |
11-108205805-C-G |
ATM |
c.8120C>G |
p.S2707C |
Missense |
55/63 |
- |
17-41244100-G-A |
BRCA1 |
c.3448C>T |
p.P1150S |
Missense |
10/23 |
- |
3-52621445-T-A |
PBRM1 |
c.2972A>T |
p.E991V |
Missense |
20/30 |
- |
7-151882672-C-A |
KMT2C |
c.5053G>T |
p.A1685S |
Missense |
34/59 |
- |
17-7578553-T-C |
TP53 |
c.377A>G |
p.Y126C |
Missense |
5/11 |
- |
16-23641307-CAT-C |
PALB2 |
c.2167_2168delAT |
p.M723Vfs*21 |
Frameshift |
5/13 |
- |
11-534285-C-A |
HRAS |
c.38G>T |
p.G13V |
Missense |
2/6 |
- |
5-131931451-TA-T |
RAD50 |
c.2165delA |
p.K722Rfs*14 |
Frameshift |
13/25 |
- |
17-7577018-C-T |
TP53 |
c.919+1G>A |
- |
IntronicSNV |
- |
8/10 |
17-7577018-C-A |
TP53 |
c.919+1G>T |
- |
IntronicSNV |
- |
8/10 |
1-27105700-C-T |
ARID1A |
c.5311C>T |
p.P1771S |
Missense |
20/20 |
- |
17-7576852-C-A |
TP53 |
c.993+1G>T |
- |
IntronicSNV |
- |
9/10 |
1-27100171-C-T |
ARID1A |
c.3967C>T |
p.R1323C |
Missense |
16/20 |
- |
1-27097694-C-T |
ARID1A |
c.3283C>T |
p.Q1095* |
Nonsense |
12/20 |
- |
17-7577568-C-A |
TP53 |
c.713G>T |
p.C238F |
Missense |
7/11 |
- |
17-29685568-A-G |
NF1 |
c.8041A>G |
p.I2681V |
Missense |
55/58 |
- |
17-29562705-C-G |
NF1 |
c.3785C>G |
p.S1262C |
Missense |
28/58 |
- |
9-98209597-G-A |
PTCH1 |
c.3941C>T |
p.P1314L |
Missense |
23/24 |
- |
20-62178623-C-T |
SRMS |
c.194G>A |
p.R65Q |
Missense |
1/8 |
- |
17-7573948-C-G |
TP53 |
c.1079G>C |
p.G360A |
Missense |
10/11 |
- |
3-178928079-G-C |
PIK3CA |
c.1357G>C |
p.E453Q |
Missense |
8/21 |
- |
17-7576897-G-A |
TP53 |
c.949C>T |
p.Q317* |
Nonsense |
9/11 |
- |
11-108235879-C-T |
ATM |
c.8921C>T |
p.P2974L |
Missense |
62/63 |
- |
11-108213973-G-A |
ATM |
c.8293G>A |
p.G2765S |
Missense |
57/63 |
- |
3-178916836-C-G |
PIK3CA |
c.223C>G |
p.Q75E |
Missense |
2/21 |
- |
17-7577082-C-A |
TP53 |
c.856G>T |
p.E286* |
Nonsense |
8/11 |
- |
2-29443696-A-C |
ALK |
c.3521T>G |
p.F1174C |
Missense |
23/29 |
- |
17-37863347-C-G |
ERBB2 |
c.178C>G |
p.L60V |
Missense |
2/27 |
- |
2-48027824-G-A |
MSH6 |
c.2702G>A |
p.R901H |
Missense |
4/10 |
- |
7-151970859-C-T |
KMT2C |
c.943G>A |
p.G315S |
Missense |
7/59 |
- |
17-7578179-C-A |
TP53 |
c.670G>T |
p.E224* |
Nonsense |
6/11 |
- |
7-55211079-A-G |
EGFR |
c.322A>G |
p.R108G |
Missense |
3/28 |
- |
9-21971111-G-A |
CDKN2A |
c.247C>T |
p.H83Y |
Missense |
2/3 |
- |
16-67645924-C-A |
CTCF |
c.852C>A |
p.H284Q |
Missense |
4/12 |
- |
9-21971017-G-A |
CDKN2A |
c.341C>T |
p.P114L |
Missense |
2/3 |
- |
1-27057727-C-T |
ARID1A |
c.1435C>T |
p.Q479* |
Nonsense |
3/20 |
- |
X-70595092-C-T |
TAF1 |
c.488C>T |
p.P143L |
Missense |
4/38 |
- |
17-7576855-G-A |
TP53 |
c.991C>T |
p.Q331* |
Nonsense |
9/11 |
- |
1-11189845-G-T |
MTOR |
c.5664C>A |
p.F1888L |
Missense |
40/58 |
- |
13-73346338-C-T |
DIS3 |
c.1462G>A |
p.D488N |
Missense |
10/21 |
- |
17-7578479-G-C |
TP53 |
c.451C>G |
p.P151A |
Missense |
5/11 |
- |
17-7577112-C-G |
TP53 |
c.826G>C |
p.A276P |
Missense |
8/11 |
- |
17-7577559-G-C |
TP53 |
c.722C>G |
p.S241C |
Missense |
7/11 |
- |
10-96535204-C-T |
CYP2C19 |
c.389C>T |
p.T130M |
Missense |
3/9 |
- |
3-178916930-G-T |
PIK3CA |
c.317G>T |
p.G106V |
Missense |
2/21 |
- |
17-7578467-T-G |
TP53 |
c.463A>C |
p.T155P |
Missense |
5/11 |
- |
2-178098944-C-T |
NFE2L2 |
c.101G>A |
p.R34Q |
Missense |
2/5 |
- |
X-123197716-C-T |
STAG2 |
c.1840C>T |
p.R614* |
Nonsense |
20/35 |
- |
17-7578395-G-T |
TP53 |
c.535C>A |
p.H179N |
Missense |
5/11 |
- |
17-7578191-A-C |
TP53 |
c.658T>G |
p.Y220D |
Missense |
6/11 |
- |
17-7577138-C-G |
TP53 |
c.800G>C |
p.R267P |
Missense |
8/11 |
- |
17-7577581-A-T |
TP53 |
c.700T>A |
p.Y234N |
Missense |
7/11 |
- |
17-7579494-T-A |
TP53 |
c.193A>T |
p.R65* |
Nonsense |
4/11 |
- |
13-25021245-A-G |
PARP4 |
c.3194T>C |
p.V1065A |
Missense |
26/34 |
- |
19-10475348-C-T |
TYK2 |
c.1309G>A |
p.E437K |
Missense |
9/25 |
- |
5-35876536-C-A |
IL7R |
c.1328C>A |
p.S443* |
Nonsense |
8/8 |
- |
17-7578263-G-C |
TP53 |
c.586C>G |
p.R196G |
Missense |
6/11 |
- |
15-89876861-C-T |
POLG |
c.125G>A |
p.R42Q |
Missense |
2/23 |
- |
8-139268993-C-A |
FAM135B |
c.307G>T |
p.A103S |
Missense |
5/20 |
- |
2-29416705-C-A |
ALK |
c.4248G>T |
p.K1416N |
Missense |
29/29 |
- |
9-98218641-C-T |
PTCH1 |
c.3223G>A |
p.G1075R |
Missense |
19/24 |
- |
2-29416380-T-C |
ALK |
c.4573A>G |
p.K1525E |
Missense |
29/29 |
- |
4-187525601-G-A |
FAT1 |
c.10478C>T |
p.P3493L |
Missense |
18/27 |
- |
16-89851273-G-A |
FANCA |
c.1459C>T |
p.R487W |
Missense |
15/43 |
- |
5-56177848-TCAA-T |
MAP3K1 |
c.2845_2847delACA |
p.T949del |
InFrameDeletion |
14/20 |
- |
7-42005963-G-A |
GLI3 |
c.2708C>T |
p.S903L |
Missense |
15/15 |
- |
7-55238900-C-T |
EGFR |
c.1913C>T |
p.T638M |
Missense |
16/28 |
- |
9-21971108-C-G |
CDKN2A |
c.250G>C |
p.D84H |
Missense |
2/3 |
- |
15-50784955-C-A |
USP8 |
c.2292C>A |
p.N764K |
Missense |
15/20 |
- |
7-55259442-G-T |
EGFR |
c.2500G>T |
p.V834L |
Missense |
21/28 |
- |
9-21970913-C-A |
CDKN2A |
c.445G>T |
p.E149* |
Nonsense |
2/3 |
- |
5-44310536-T-C |
FGF10 |
c.422A>G |
p.Y141C |
Missense |
2/3 |
- |
17-29654655-A-G |
NF1 |
c.5407A>G |
p.I1803V |
Missense |
38/58 |
- |
17-29657493-G-A |
NF1 |
c.5789G>A |
p.C1930Y |
Missense |
39/58 |
- |
5-80109532-A-G |
MSH3 |
c.2785A>G |
p.I929V |
Missense |
20/24 |
- |
4-187549515-G-A |
FAT1 |
c.4603C>T |
p.R1535* |
Nonsense |
9/27 |
- |
17-29585518-A-G |
NF1 |
c.4330A>G |
p.K1444E |
Missense |
32/58 |
- |
17-29667553-G-T |
NF1 |
c.6952G>T |
p.V2318L |
Missense |
47/58 |
- |
17-7576888-T-A |
TP53 |
c.958A>T |
p.K320* |
Nonsense |
9/11 |
- |
18-48604655-G-A |
SMAD4 |
c.1477G>A |
p.D493N |
Missense |
12/12 |
- |
12-115112026-C-T |
TBX3 |
c.1654G>A |
p.G552R |
Missense |
6/7 |
- |
17-29552252-A-G |
NF1 |
c.1985A>G |
p.K662R |
Missense |
17/58 |
- |
3-178941879-A-G |
PIK3CA |
c.2198A>G |
p.K733R |
Missense |
15/21 |
- |
17-41201197-T-G |
BRCA1 |
c.5347A>C |
p.M1783L |
Missense |
21/23 |
- |
17-41199678-C-A |
BRCA1 |
c.5449G>T |
p.E1817* |
Nonsense |
22/23 |
- |
19-10602836-C-T |
KEAP1 |
c.742G>A |
p.A248T |
Missense |
3/6 |
- |
16-23649269-G-A |
PALB2 |
c.113C>T |
p.A38V |
Missense |
3/13 |
- |
7-140453124-C-A |
BRAF |
c.1811G>T |
p.W604L |
Missense |
15/18 |
- |
16-23646208-G-T |
PALB2 |
c.1659C>A |
p.H553Q |
Missense |
4/13 |
- |
12-49427912-C-T |
KMT2D |
c.10678G>A |
p.D3560N |
Missense |
39/55 |
- |
1-158585163-G-T |
SPTA1 |
c.6631C>A |
p.R2211S |
Missense |
48/52 |
- |
17-37880997-G-GTGT |
ERBB2 |
c.2326_2327insTGT |
p.G776delinsVC |
MultiAAMissense |
20/27 |
- |
16-89877149-C-T |
FANCA |
c.488G>A |
p.R163H |
Missense |
5/43 |
- |
18-51795960-A-G |
POLI |
c.44A>G |
p.D15G |
Missense |
1/10 |
- |
8-90971041-C-T |
NBN |
c.1036G>A |
p.V346M |
Missense |
9/16 |
- |
13-32907183-A-G |
BRCA2 |
c.1568A>G |
p.H523R |
Missense |
10/27 |
- |
8-90995017-A-G |
NBN |
c.104T>C |
p.I35T |
Missense |
2/16 |
- |
11-108099994-A-C |
ATM |
c.275A>C |
p.K92T |
Missense |
4/63 |
- |
11-108138009-G-A |
ATM |
c.2578G>A |
p.D860N |
Missense |
17/63 |
- |
11-108192078-C-T |
ATM |
c.6503C>T |
p.S2168L |
Missense |
45/63 |
- |
5-131977907-C-T |
RAD50 |
c.3790C>T |
p.L1264F |
Missense |
25/25 |
- |
13-32913027-G-A |
BRCA2 |
c.4535G>A |
p.R1512H |
Missense |
11/27 |
- |
13-32912568-C-T |
BRCA2 |
c.4076C>T |
p.T1359I |
Missense |
11/27 |
- |
13-32912868-A-G |
BRCA2 |
c.4376A>G |
p.N1459S |
Missense |
11/27 |
- |
13-32913091-A-C |
BRCA2 |
c.4599A>C |
p.K1533N |
Missense |
11/27 |
- |
16-23646375-C-A |
PALB2 |
c.1492G>T |
p.D498Y |
Missense |
4/13 |
- |
13-32972800-C-T |
BRCA2 |
c.10150C>T |
p.R3384* |
Nonsense |
27/27 |
- |
16-23614962-A-G |
PALB2 |
c.3379T>C |
p.C1127R |
Missense |
13/13 |
- |
16-23632708-T-C |
PALB2 |
c.3088A>G |
p.T1030A |
Missense |
10/13 |
- |
16-23640966-C-T |
PALB2 |
c.2509G>A |
p.E837K |
Missense |
5/13 |
- |
16-23641186-C-G |
PALB2 |
c.2289G>C |
p.L763F |
Missense |
5/13 |
- |
16-23641247-T-C |
PALB2 |
c.2228A>G |
p.Y743C |
Missense |
5/13 |
- |
16-23641346-G-A |
PALB2 |
c.2129C>T |
p.T710M |
Missense |
5/13 |
- |
16-23641520-C-T |
PALB2 |
c.1955G>A |
p.S652N |
Missense |
5/13 |
- |
16-23646594-C-T |
PALB2 |
c.1273G>A |
p.V425M |
Missense |
4/13 |
- |
16-23646654-G-C |
PALB2 |
c.1213C>G |
p.P405A |
Missense |
4/13 |
- |
16-23647638-A-G |
PALB2 |
c.229T>C |
p.C77R |
Missense |
4/13 |
- |
7-55242481-ACATCTCCGAAAGCCAACAAGGAAATC-TCT |
EGFR |
c.2251_2277delinsTCT |
p.T751_I759delinsS |
MultiAAMissense |
19/28 |
- |
17-41245201-T-C |
BRCA1 |
c.2347A>G |
p.I783V |
Missense |
10/23 |
- |
5-79950715-G-C |
MSH3 |
c.169G>C |
p.A57P |
Missense |
1/24 |
- |
19-10610382-T-C |
KEAP1 |
c.328A>G |
p.M110V |
Missense |
2/6 |
- |
16-23647149-G-T |
PALB2 |
c.718C>A |
p.P240T |
Missense |
4/13 |
- |
9-139395158-G-A |
NOTCH1 |
c.5780C>T |
p.T1927M |
Missense |
31/34 |
- |
17-41246724-C-T |
BRCA1 |
c.824G>A |
p.G275D |
Missense |
10/23 |
- |
17-41246737-C-T |
BRCA1 |
c.811G>A |
p.V271M |
Missense |
10/23 |
- |
22-29090043-C-T |
CHEK2 |
c.1438G>A |
p.A480T |
Missense |
13/15 |
- |
22-29091846-G-A |
CHEK2 |
c.1111C>T |
p.H371Y |
Missense |
11/15 |
- |
22-29107934-C-T |
CHEK2 |
c.755G>A |
p.S252N |
Missense |
6/15 |
- |
6-106553729-C-A |
PRDM1 |
c.1694C>A |
p.P565Q |
Missense |
5/7 |
- |
16-23619203-G-A |
PALB2 |
c.3332C>T |
p.P1111L |
Missense |
12/13 |
- |
16-23641146-C-T |
PALB2 |
c.2329G>A |
p.D777N |
Missense |
5/13 |
- |
17-29559777-C-T |
NF1 |
c.3374C>T |
p.A1125V |
Missense |
26/58 |
- |
16-23646813-C-G |
PALB2 |
c.1054G>C |
p.E352Q |
Missense |
4/13 |
- |
21-36252876-C-G |
RUNX1 |
c.486G>C |
p.R162S |
Missense |
5/9 |
- |
15-91328217-G-A |
BLM |
c.2729G>A |
p.R910K |
Missense |
14/22 |
- |
1-11272529-G-A |
MTOR |
c.3401C>T |
p.A1134V |
Missense |
23/58 |
- |
22-29095882-G-A |
CHEK2 |
c.952C>T |
p.R318C |
Missense |
9/15 |
- |
11-108224493-G-T |
ATM |
c.8672G>T |
p.G2891V |
Missense |
60/63 |
- |
13-32906411-T-C |
BRCA2 |
c.796T>C |
p.F266L |
Missense |
10/27 |
- |
16-89858883-C-T |
FANCA |
c.1079G>A |
p.R360H |
Missense |
12/43 |
- |
3-181430151-G-A |
SOX2 |
c.3G>A |
p.M1? |
Missense |
1/1 |
- |
3-37053562-C-T |
MLH1 |
c.649C>T |
p.R217C |
Missense |
8/19 |
- |
2-47637371-A-G |
MSH2 |
c.505A>G |
p.I169V |
Missense |
3/16 |
- |
2-47693946-A-G |
MSH2 |
c.1660A>G |
p.S554G |
Missense |
10/16 |
- |
7-6026708-C-T |
PMS2 |
c.1688G>A |
p.R563Q |
Missense |
11/15 |
- |
10-89692836-A-T |
PTEN |
c.320A>T |
p.D107V |
Missense |
5/9 |
- |
16-14026103-G-A |
ERCC4 |
c.1063G>A |
p.E355K |
Missense |
6/11 |
- |
16-72992630-G-T |
ZFHX3 |
c.1415C>A |
p.A472E |
Missense |
2/10 |
- |
17-29556953-G-A |
NF1 |
c.2951G>A |
p.G984E |
Missense |
22/58 |
- |
2-141458125-G-A |
LRP1B |
c.6493C>T |
p.R2165W |
Missense |
41/91 |
- |
2-212251659-C-G |
ERBB4 |
c.3400G>C |
p.V1134L |
Missense |
27/28 |
- |
13-32972378-C-T |
BRCA2 |
c.9728C>T |
p.P3243L |
Missense |
27/27 |
- |
2-47705625-G-A |
MSH2 |
c.2425G>A |
p.E809K |
Missense |
14/16 |
- |
9-21974714-GGCAGCGCCCCCGCCTCCA-G |
CDKN2A |
c.95_112del18 |
p.L32_L37del |
InFrameDeletion |
1/3 |
- |
9-80537095-G-T |
GNAQ |
c.303C>A |
p.Y101* |
Nonsense |
2/7 |
- |
18-48591975-A-T |
SMAD4 |
c.1138A>T |
p.R380W |
Missense |
9/12 |
- |
2-212495294-T-A |
ERBB4 |
c.1972A>T |
p.I658F |
Missense |
17/28 |
- |
1-11298542-T-C |
MTOR |
c.1919A>G |
p.H640R |
Missense |
12/58 |
- |
12-57864754-G-A |
GLI1 |
c.2231G>A |
p.G744E |
Missense |
12/12 |
- |
9-98242839-C-A |
PTCH1 |
c.778G>T |
p.D260Y |
Missense |
6/24 |
- |
5-112176926-G-T |
APC |
c.5635G>T |
p.A1879S |
Missense |
16/16 |
- |
7-116415163-G-A |
MET |
c.3257G>A |
p.R1086K |
Missense |
15/21 |
- |
17-46804397-C-G |
HOXB13 |
c.610G>C |
p.G204R |
Missense |
2/2 |
- |
16-10031816-G-A |
GRIN2A |
c.1007C>T |
p.P336L |
Missense |
3/13 |
- |
13-48937093-G-T |
RB1 |
c.861G>T |
p.E287D |
Missense |
8/27 |
- |
5-112173830-G-T |
APC |
c.2539G>T |
p.E847* |
Nonsense |
16/16 |
- |
17-38512270-G-T |
RARA |
c.1181G>T |
p.R394L |
Missense |
9/9 |
- |
17-7579715-AG-A |
TP53 |
c.80delC |
p.P27Lfs*17 |
Frameshift |
3/11 |
- |
19-10610405-G-A |
KEAP1 |
c.305C>T |
p.S102L |
Missense |
2/6 |
- |
17-29553477-A-AC |
NF1 |
c.2033dupC |
p.I679Dfs*21 |
Frameshift |
18/58 |
- |
10-89720798-GTACT-G |
PTEN |
c.955_958delACTT |
p.T319* |
Frameshift |
8/9 |
- |
17-7577500-TG-T |
TP53 |
c.780delC |
p.S261Vfs*84 |
Frameshift |
7/11 |
- |
17-7579854-GA-G |
TP53 |
c.58delT |
p.S20Qfs*24 |
Frameshift |
2/11 |
- |
17-7579470-CG-C |
TP53 |
c.216delC |
p.V73Wfs*50 |
Frameshift |
4/11 |
- |
19-50917023-G-A |
POLD1 |
c.2275G>A |
p.V759I |
Missense |
19/27 |
- |
17-7578504-AG-A |
TP53 |
c.425delC |
p.P142Lfs*28 |
Frameshift |
5/11 |
- |
17-7577035-TG-T |
TP53 |
c.902delC |
p.P301Qfs*44 |
Frameshift |
8/11 |
- |
3-30691871-G-GA |
TGFBR2 |
c.383_383dupA |
p.P129Afs*3 |
Frameshift |
3/7 |
- |
17-7577594-ACAGT-A |
TP53 |
c.683_686delACTG |
p.D228Vfs*18 |
Frameshift |
7/11 |
- |
7-116412044-G-T |
MET |
c.3028+1G>T |
- |
IntronicSNV |
- |
14/20 |
7-152055688-TTC-T |
KMT2C |
c.232_233delGA |
p.E78Nfs*17 |
Frameshift |
2/59 |
- |
22-24176351-CG-C |
SMARCB1 |
c.1144delG |
p.A382Pfs*101 |
Frameshift |
9/9 |
- |
17-29486112-G-T |
NF1 |
c.288+1G>T |
- |
IntronicSNV |
- |
3/57 |
5-112154963-C-T |
APC |
c.1234C>T |
p.Q412* |
Nonsense |
10/16 |
- |
15-99465657-G-T |
IGF1R |
c.2482G>T |
p.A828S |
Missense |
11/21 |
- |
9-21971185-C-T |
CDKN2A |
c.173G>A |
p.R58Q |
Missense |
2/3 |
- |
17-41243952-G-A |
BRCA1 |
c.3596C>T |
p.A1199V |
Missense |
10/23 |
- |
9-21974783-C-T |
CDKN2A |
c.44G>A |
p.W15* |
Nonsense |
1/3 |
- |
16-23646627-G-A |
PALB2 |
c.1240C>T |
p.R414* |
Nonsense |
4/13 |
- |
10-89711892-T-G |
PTEN |
c.510T>G |
p.S170R |
Missense |
6/9 |
- |
7-140624440-C-T |
BRAF |
c.64G>A |
p.D22N |
Missense |
1/18 |
- |
X-53241007-C-A |
KDM5C |
c.1204G>T |
p.D402Y |
Missense |
9/26 |
- |
7-142459834-C-T |
PRSS1 |
c.410C>T |
p.T137M |
Missense |
3/5 |
- |
9-21971108-C-A |
CDKN2A |
c.250G>T |
p.D84Y |
Missense |
2/3 |
- |
16-23646750-C-T |
PALB2 |
c.1117G>A |
p.E373K |
Missense |
4/13 |
- |
X-76944369-T-C |
ATRX |
c.536A>G |
p.N179S |
Missense |
7/35 |
- |
16-2104300-G-A |
TSC2 |
c.340G>A |
p.E114K |
Missense |
5/42 |
- |
6-43748521-C-T |
VEGFA |
c.1015C>T |
p.R339W |
Missense |
6/8 |
- |
2-209113210-T-C |
IDH1 |
c.297A>G |
p.I99M |
Missense |
4/10 |
- |
22-29091741-G-A |
CHEK2 |
c.1216C>T |
p.R406C |
Missense |
11/15 |
- |
16-3786796-C-G |
CREBBP |
c.4415G>C |
p.W1472S |
Missense |
27/31 |
- |
16-3789597-C-T |
CREBBP |
c.4262G>A |
p.C1421Y |
Missense |
25/31 |
- |
2-178098973-C-G |
NFE2L2 |
c.72G>C |
p.W24C |
Missense |
2/5 |
- |
3-12641304-G-C |
RAF1 |
c.994C>G |
p.P332A |
Missense |
10/17 |
- |
10-89690831-A-T |
PTEN |
c.238A>T |
p.K80* |
Nonsense |
4/9 |
- |
17-7578446-T-A |
TP53 |
c.484A>T |
p.I162F |
Missense |
5/11 |
- |
2-215593551-G-A |
BARD1 |
c.2183C>T |
p.S728F |
Missense |
11/11 |
- |
2-215610562-C-T |
BARD1 |
c.1694G>A |
p.R565H |
Missense |
8/11 |
- |
2-215645825-A-G |
BARD1 |
c.773T>C |
p.I258T |
Missense |
4/11 |
- |
13-48936983-C-T |
RB1 |
c.751C>T |
p.R251* |
Nonsense |
8/27 |
- |
13-49030386-C-A |
RB1 |
c.1861C>A |
p.R621S |
Missense |
19/27 |
- |
5-149502704-C-T |
PDGFRB |
c.2084G>A |
p.R695H |
Missense |
15/23 |
- |
17-59763272-G-C |
BRIP1 |
c.2830C>G |
p.Q944E |
Missense |
19/20 |
- |
1-11188164-G-C |
MTOR |
c.5930C>G |
p.T1977R |
Missense |
43/58 |
- |
5-156675967-C-T |
ITK |
c.1741C>T |
p.R581W |
Missense |
16/17 |
- |
3-10183734-C-G |
VHL |
c.203C>G |
p.S68W |
Missense |
1/3 |
- |
13-48919300-T-A |
RB1 |
c.465T>A |
p.Y155* |
Nonsense |
4/27 |
- |
9-135778098-T-C |
TSC1 |
c.2285A>G |
p.N762S |
Missense |
18/23 |
- |
7-42005678-G-C |
GLI3 |
c.2993C>G |
p.P998R |
Missense |
15/15 |
- |
2-47710068-C-T |
MSH2 |
c.2785C>T |
p.R929* |
Nonsense |
16/16 |
- |
9-98209585-G-A |
PTCH1 |
c.3953C>T |
p.P1318L |
Missense |
23/24 |
- |
9-135772614-G-C |
TSC1 |
c.2932C>G |
p.L978V |
Missense |
22/23 |
- |
17-7577135-T-A |
TP53 |
c.803A>T |
p.N268I |
Missense |
8/11 |
- |
15-91312426-C-T |
BLM |
c.2371C>T |
p.R791C |
Missense |
11/22 |
- |
19-1220400-G-T |
STK11 |
c.493G>T |
p.E165* |
Nonsense |
4/10 |
- |
16-89818581-G-A |
FANCA |
c.3031C>T |
p.R1011C |
Missense |
31/43 |
- |
X-39932995-G-A |
BCOR |
c.1604C>T |
p.A535V |
Missense |
4/15 |
- |
7-128850922-G-C |
SMO |
c.1769G>C |
p.S590T |
Missense |
10/12 |
- |
3-52643672-C-A |
PBRM1 |
c.2224G>T |
p.E742* |
Nonsense |
17/30 |
- |
16-23646257-G-A |
PALB2 |
c.1610C>T |
p.S537L |
Missense |
4/13 |
- |
16-23641115-G-A |
PALB2 |
c.2360C>T |
p.T787I |
Missense |
5/13 |
- |
9-21974724-C-G |
CDKN2A |
c.103G>C |
p.G35R |
Missense |
1/3 |
- |
7-116412043-G-T |
MET |
c.3028G>T |
p.D1010Y |
Missense |
14/21 |
- |
4-55131118-C-T |
PDGFRA |
c.661C>T |
p.L221F |
Missense |
5/23 |
- |
5-112174944-C-T |
APC |
c.3653C>T |
p.T1218M |
Missense |
16/16 |
- |
16-23641367-A-C |
PALB2 |
c.2108T>G |
p.L703* |
Nonsense |
5/13 |
- |
17-59870989-C-T |
BRIP1 |
c.1442G>A |
p.G481D |
Missense |
10/20 |
- |
17-59763248-T-C |
BRIP1 |
c.2854A>G |
p.I952V |
Missense |
19/20 |
- |
7-151962134-G-T |
KMT2C |
c.1173C>A |
p.C391* |
Nonsense |
8/59 |
- |
9-21971036-C-G |
CDKN2A |
c.322G>C |
p.D108H |
Missense |
2/3 |
- |
5-112179623-G-T |
APC |
c.8332G>T |
p.A2778S |
Missense |
16/16 |
- |
2-48026185-G-A |
MSH6 |
c.1063G>A |
p.G355S |
Missense |
4/10 |
- |
2-29445397-G-T |
ALK |
c.3436C>A |
p.Q1146K |
Missense |
21/29 |
- |
13-32912864-C-T |
BRCA2 |
c.4372C>T |
p.H1458Y |
Missense |
11/27 |
- |
2-215609831-C-A |
BARD1 |
c.1863G>T |
p.M621I |
Missense |
9/11 |
- |
9-135781467-G-A |
TSC1 |
c.1498C>T |
p.R500* |
Nonsense |
15/23 |
- |
12-133249752-C-T |
POLE |
c.1471G>A |
p.E491K |
Missense |
14/49 |
- |
18-48586278-A-G |
SMAD4 |
c.947A>G |
p.N316S |
Missense |
8/12 |
- |
12-133225520-G-A |
POLE |
c.4144C>T |
p.R1382C |
Missense |
32/49 |
- |
5-131911578-A-G |
RAD50 |
c.323A>G |
p.K108R |
Missense |
3/25 |
- |
2-47703697-G-A |
MSH2 |
c.2197G>A |
p.A733T |
Missense |
13/16 |
- |
13-32893238-G-A |
BRCA2 |
c.92G>A |
p.W31* |
Nonsense |
3/27 |
- |
17-7579549-G-T |
TP53 |
c.138C>A |
p.S46= |
Synonymous |
4/11 |
- |
7-151962168-C-A |
KMT2C |
c.1139G>T |
p.R380L |
Missense |
8/59 |
- |
9-139397639-A-C |
NOTCH1 |
c.5162T>G |
p.V1721G |
Missense |
27/34 |
- |
22-22221645-G-A |
MAPK1 |
c.86C>T |
p.S29L |
Missense |
1/9 |
- |
1-65304196-G-T |
JAK1 |
c.2919C>A |
p.N973K |
Missense |
21/25 |
- |
16-23649269-G-C |
PALB2 |
c.113C>G |
p.A38G |
Missense |
3/13 |
- |
2-215645300-T-C |
BARD1 |
c.1298A>G |
p.H433R |
Missense |
4/11 |
- |
9-133759489-CAAG-C |
ABL1 |
c.1826_1828delAGA |
p.K609del |
InFrameDeletion |
11/11 |
- |
17-29588851-C-G |
NF1 |
c.4700C>G |
p.S1567* |
Nonsense |
35/58 |
- |
19-1207105-G-T |
STK11 |
c.193G>T |
p.E65* |
Nonsense |
1/10 |
- |
17-66511629-T-A |
PRKAR1A |
c.89T>A |
p.L30Q |
Missense |
2/11 |
- |
10-43620336-G-A |
RET |
c.2945G>A |
p.R982H |
Missense |
18/20 |
- |
2-178098975-A-G |
NFE2L2 |
c.70T>C |
p.W24R |
Missense |
2/5 |
- |
2-178098816-C-A |
NFE2L2 |
c.229G>T |
p.D77Y |
Missense |
2/5 |
- |
2-178098962-A-G |
NFE2L2 |
c.83T>C |
p.I28T |
Missense |
2/5 |
- |
2-178098950-A-C |
NFE2L2 |
c.95T>G |
p.V32G |
Missense |
2/5 |
- |
15-88423601-C-A |
NTRK3 |
c.2234G>T |
p.R745L |
Missense |
19/20 |
- |
5-149504392-G-A |
PDGFRB |
c.1810C>T |
p.R604C |
Missense |
13/23 |
- |
4-55604628-C-T |
KIT |
c.2836C>T |
p.R946* |
Nonsense |
21/21 |
- |
15-99250824-A-G |
IGF1R |
c.128A>G |
p.Y43C |
Missense |
2/21 |
- |
17-41228533-T-A |
BRCA1 |
c.4456A>T |
p.S1486C |
Missense |
13/23 |
- |
2-47601060-G-A |
EPCAM |
c.298G>A |
p.D100N |
Missense |
3/9 |
- |
14-95570399-T-C |
DICER1 |
c.3334A>G |
p.N1112D |
Missense |
21/27 |
- |
16-9916248-G-A |
GRIN2A |
c.2041C>T |
p.R681* |
Nonsense |
10/13 |
- |
3-52442614-T-A |
BAP1 |
c.131A>T |
p.Y44F |
Missense |
4/17 |
- |
9-21974695-CG-C |
CDKN2A |
c.132delC |
p.Y44* |
Frameshift |
1/3 |
- |
9-21974776-GGCCA-G |
CDKN2A |
c.47_50delTGGC |
p.L16Pfs*9 |
Frameshift |
1/3 |
- |
17-7579419-AG-A |
TP53 |
c.267delC |
p.S90Pfs*33 |
Frameshift |
4/11 |
- |
1-27105930-TG-T |
ARID1A |
c.5548delG |
p.D1850Tfs*33 |
Frameshift |
20/20 |
- |
12-121432117-G-GC |
HNF1A |
c.872dupC |
p.G292Rfs*25 |
Frameshift |
4/10 |
- |
16-23646807-AT-A |
PALB2 |
c.1059delA |
p.K353Nfs*3 |
Frameshift |
4/13 |
- |
16-23646825-GTTCTT-G |
PALB2 |
c.1037_1041delAAGAA |
p.K346Tfs*13 |
Frameshift |
4/13 |
- |
16-23614914-G-GT |
PALB2 |
c.3426_3426dupA |
p.L1143Tfs*14 |
Frameshift |
13/13 |
- |
12-133201522-G-A |
POLE |
c.6716C>T |
p.A2239V |
Missense |
48/49 |
- |
17-17118625-CA-C |
FLCN |
c.1305delT |
p.F435Lfs*33 |
Frameshift |
12/14 |
- |
17-38510606-C-T |
RARA |
c.860C>T |
p.S287L |
Missense |
7/9 |
- |
16-89857848-C-T |
FANCA |
c.1322G>A |
p.G441D |
Missense |
14/43 |
- |
16-3808917-G-A |
CREBBP |
c.3307C>T |
p.R1103* |
Nonsense |
17/31 |
- |
16-23635403-G-GT |
PALB2 |
c.2760_2760dupA |
p.Q921Tfs*7 |
Frameshift |
8/13 |
- |
12-57606328-C-A |
LRP1 |
c.13625C>A |
p.P4542H |
Missense |
89/89 |
- |
1-27101282-G-A |
ARID1A |
c.4564G>A |
p.A1522T |
Missense |
18/20 |
- |
10-89717777-G-T |
PTEN |
c.801+1G>T |
- |
IntronicSNV |
- |
7/8 |
5-1293662-G-A |
TERT |
c.1339C>T |
p.R447C |
Missense |
2/16 |
- |
1-19062330-G-A |
PAX7 |
c.1360G>A |
p.V454M |
Missense |
8/9 |
- |
10-104375107-G-A |
SUFU |
c.1105G>A |
p.V369I |
Missense |
9/12 |
- |
16-89805325-G-A |
FANCA |
c.4225C>T |
p.R1409W |
Missense |
42/43 |
- |
12-133209313-C-T |
POLE |
c.6073G>A |
p.V2025M |
Missense |
44/49 |
- |
11-128786614-G-C |
KCNJ5 |
c.1248G>C |
p.R416S |
Missense |
3/3 |
- |
1-120458081-G-T |
NOTCH2 |
c.7264C>A |
p.P2422T |
Missense |
34/34 |
- |
1-155870205-G-A |
RIT1 |
c.634C>T |
p.R212W |
Missense |
6/6 |
- |
12-4479663-G-A |
FGF23 |
c.602C>T |
p.P201L |
Missense |
3/3 |
- |
19-30314667-G-T |
CCNE1 |
c.1216G>T |
p.G406W |
Missense |
12/12 |
- |
16-2138544-C-G |
TSC2 |
c.5357C>G |
p.P1786R |
Missense |
42/42 |
- |
19-1226602-G-T |
STK11 |
c.1258G>T |
p.A420S |
Missense |
9/10 |
- |
17-41243473-G-C |
BRCA1 |
c.4075C>G |
p.Q1359E |
Missense |
10/23 |
- |
19-41765775-C-T |
AXL |
c.2651C>T |
p.S884F |
Missense |
20/20 |
- |
16-2124210-G-A |
TSC2 |
c.2365G>A |
p.V789I |
Missense |
22/42 |
- |
2-29416646-C-T |
ALK |
c.4307G>A |
p.R1436H |
Missense |
29/29 |
- |
2-29416520-A-G |
ALK |
c.4433T>C |
p.M1478T |
Missense |
29/29 |
- |
2-212251659-C-A |
ERBB4 |
c.3400G>T |
p.V1134L |
Missense |
27/28 |
- |
2-212248518-C-G |
ERBB4 |
c.3749G>C |
p.R1250P |
Missense |
28/28 |
- |
16-1555592-G-A |
TELO2 |
c.2024G>A |
p.R675Q |
Missense |
16/21 |
- |
19-44058922-G-A |
XRCC1 |
c.290C>T |
p.S97F |
Missense |
4/17 |
- |
2-225343000-C-T |
CUL3 |
c.2092G>A |
p.D698N |
Missense |
15/16 |
- |
2-212251874-T-C |
ERBB4 |
c.3185A>G |
p.N1062S |
Missense |
27/28 |
- |
4-175899071-GTGACACCCTCCCAGAGGCAACCTCAGT-G |
ADAM29 |
c.2399_2425del27 |
p.T800_L808del |
InFrameDeletion |
5/5 |
- |
6-152129480-G-A |
ESR1 |
c.433G>A |
p.G145S |
Missense |
1/8 |
- |
9-98209357-C-T |
PTCH1 |
c.4181G>A |
p.R1394Q |
Missense |
23/24 |
- |
9-98209328-T-C |
PTCH1 |
c.4210A>G |
p.T1404A |
Missense |
23/24 |
- |
9-98209366-C-T |
PTCH1 |
c.4172G>A |
p.R1391Q |
Missense |
23/24 |
- |
7-42005105-C-T |
GLI3 |
c.3566G>A |
p.R1189H |
Missense |
15/15 |
- |
7-42005498-C-A |
GLI3 |
c.3173G>T |
p.R1058L |
Missense |
15/15 |
- |
7-128851988-C-A |
SMO |
c.2060C>A |
p.P687Q |
Missense |
12/12 |
- |
17-7576916-G-GA |
TP53 |
c.929_930insT |
p.N311Qfs*26 |
Frameshift |
9/11 |
- |
7-141429371-T-G |
WEE2 |
c.1576T>G |
p.Y526D |
Missense |
11/12 |
- |
7-55259532-G-C |
EGFR |
c.2590G>C |
p.A864P |
Missense |
21/28 |
- |
8-37695353-G-A |
ADGRA2 |
c.2155G>A |
p.G719R |
Missense |
14/19 |
- |
7-116436092-G-A |
MET |
c.4087G>A |
p.A1363T |
Missense |
21/21 |
- |
20-52188287-GT-G |
ZNF217 |
c.3142delA |
p.T1048Lfs*59 |
Frameshift |
5/6 |
- |
12-124824652-G-A |
NCOR2 |
c.5587C>T |
p.R1863W |
Missense |
39/49 |
- |
17-7577524-T-G |
TP53 |
c.757A>C |
p.T253P |
Missense |
7/11 |
- |
12-121434531-C-A |
HNF1A |
c.1295C>A |
p.S432Y |
Missense |
6/10 |
- |
22-42522737-C-T |
CYP2D6 |
c.1333G>A |
p.G445R |
Missense |
9/9 |
- |
17-7579407-ACAGGGGCCAGGAGGGGGCTGGTG-A |
TP53 |
c.257_279del23 |
p.A86Vfs*55 |
Frameshift |
4/11 |
- |
4-187521337-T-C |
FAT1 |
c.11818A>G |
p.T3940A |
Missense |
22/27 |
- |
12-124824739-T-TGCCG |
NCOR2 |
c.5499_5500insCGGC |
p.S1834Rfs*194 |
Frameshift |
39/49 |
- |
17-7577152-AC-A |
TP53 |
c.785delG |
p.G262Vfs*83 |
Frameshift |
8/11 |
- |
4-88977295-C-T |
PKD2 |
c.1774C>T |
p.R592* |
Nonsense |
8/15 |
- |
9-98240437-G-C |
PTCH1 |
c.1247C>G |
p.T416S |
Missense |
9/24 |
- |
4-187524600-C-T |
FAT1 |
c.11080G>A |
p.V3694I |
Missense |
19/27 |
- |
7-42007293-C-A |
GLI3 |
c.2332G>T |
p.V778L |
Missense |
14/15 |
- |
15-67482843-C-T |
SMAD3 |
c.1247C>T |
p.S416F |
Missense |
9/9 |
- |
15-67473780-G-T |
SMAD3 |
c.860G>T |
p.R287L |
Missense |
6/9 |
- |
19-1219336-G-T |
STK11 |
c.388G>T |
p.E130* |
Nonsense |
3/10 |
- |
13-32914356-C-T |
BRCA2 |
c.5864C>T |
p.S1955L |
Missense |
11/27 |
- |
19-50905089-T-C |
POLD1 |
c.371T>C |
p.V124A |
Missense |
4/27 |
- |
17-41226368-T-C |
BRCA1 |
c.4655A>G |
p.Y1552C |
Missense |
14/23 |
- |
3-10116221-C-T |
FANCD2 |
c.2723C>T |
p.T908I |
Missense |
29/44 |
- |
1-156838380-C-T |
NTRK1 |
c.658C>T |
p.R220W |
Missense |
6/17 |
- |
7-55231464-A-T |
EGFR |
c.1670A>T |
p.Q557L |
Missense |
14/28 |
- |
9-5534876-G-T |
PDCD1LG2 |
c.187G>T |
p.E63* |
Nonsense |
3/7 |
- |
12-133254172-T-A |
POLE |
c.712A>T |
p.I238F |
Missense |
7/49 |
- |
16-2133780-C-T |
TSC2 |
c.3968C>T |
p.A1323V |
Missense |
33/42 |
- |
3-10076461-G-A |
FANCD2 |
c.356G>A |
p.R119H |
Missense |
5/44 |
- |
1-27057761-C-T |
ARID1A |
c.1469C>T |
p.P490L |
Missense |
3/20 |
- |
9-5557694-C-A |
PDCD1LG2 |
c.708C>A |
p.F236L |
Missense |
5/7 |
- |
2-47705647-A-G |
MSH2 |
c.2447A>G |
p.Q816R |
Missense |
14/16 |
- |
12-49426729-AGCT-A |
KMT2D |
c.11756_11758delAGC |
p.Q3919del |
InFrameDeletion |
40/55 |
- |
2-47635594-T-C |
MSH2 |
c.266T>C |
p.V89A |
Missense |
2/16 |
- |
12-133219820-A-G |
POLE |
c.4541T>C |
p.V1514A |
Missense |
35/49 |
- |
17-66521912-A-C |
PRKAR1A |
c.567A>C |
p.E189D |
Missense |
7/11 |
- |
15-91298125-G-A |
BLM |
c.1044G>A |
p.M348I |
Missense |
5/22 |
- |
17-7577103-C-A |
TP53 |
c.835G>T |
p.G279W |
Missense |
8/11 |
- |
9-21971123-TGA-T |
CDKN2A |
c.233_234delTC |
p.L78Hfs*41 |
Frameshift |
2/3 |
- |
5-112175945-G-T |
APC |
c.4654G>T |
p.E1552* |
Nonsense |
16/16 |
- |
20-52193658-C-T |
ZNF217 |
c.1645G>A |
p.A549T |
Missense |
4/6 |
- |
17-7578224-CT-C |
TP53 |
c.625delA |
p.R209Efs*38 |
Frameshift |
6/11 |
- |
17-7578249-AT-A |
TP53 |
c.599delA |
p.N200Ifs*47 |
Frameshift |
6/11 |
- |
9-98241386-G-A |
PTCH1 |
c.1111C>T |
p.Q371* |
Nonsense |
8/24 |
- |
3-142285065-T-C |
ATR |
c.190A>G |
p.T64A |
Missense |
3/47 |
- |
2-48030630-C-T |
MSH6 |
c.3244C>T |
p.P1082S |
Missense |
5/10 |
- |
18-19751656-G-A |
GATA6 |
c.551G>A |
p.S184N |
Missense |
2/7 |
- |
5-112176548-G-C |
APC |
c.5257G>C |
p.A1753P |
Missense |
16/16 |
- |
4-106164794-G-C |
TET2 |
c.3662G>C |
p.C1221S |
Missense |
6/11 |
- |
11-118375998-G-A |
KMT2A |
c.9391G>A |
p.G3131S |
Missense |
27/36 |
- |
16-9934956-G-A |
GRIN2A |
c.1334C>T |
p.S445L |
Missense |
6/13 |
- |
3-30713433-G-T |
TGFBR2 |
c.758G>T |
p.G253V |
Missense |
4/7 |
- |
13-73346013-C-A |
DIS3 |
c.1525G>T |
p.V509L |
Missense |
11/21 |
- |
4-187540134-C-A |
FAT1 |
c.7606G>T |
p.A2536S |
Missense |
10/27 |
- |
6-18134076-T-A |
TPMT |
c.539A>T |
p.Y180F |
Missense |
7/9 |
- |
2-141250219-C-A |
LRP1B |
c.9078G>T |
p.R3026S |
Missense |
57/91 |
- |
3-89462320-G-T |
EPHA3 |
c.1792G>T |
p.D598Y |
Missense |
10/17 |
- |
4-25667818-G-A |
SLC34A2 |
c.448G>A |
p.G150R |
Missense |
5/13 |
- |
2-47630409-C-G |
MSH2 |
c.79C>G |
p.P27A |
Missense |
1/16 |
- |
1-241676979-C-T |
FH |
c.302G>A |
p.R101Q |
Missense |
3/10 |
- |
16-23634361-C-G |
PALB2 |
c.2925G>C |
p.R975S |
Missense |
9/13 |
- |
7-42084984-A-G |
GLI3 |
c.825T>C |
p.D275= |
Synonymous |
6/15 |
- |
9-139401405-C-T |
NOTCH1 |
c.3664G>A |
p.V1222M |
Missense |
23/34 |
- |
19-15302951-G-A |
NOTCH3 |
c.499C>T |
p.P167S |
Missense |
4/33 |
- |
9-135781505-G-C |
TSC1 |
c.1460C>G |
p.S487C |
Missense |
15/23 |
- |
17-78360160-G-A |
RNF213 |
c.14650G>A |
p.V4884I |
Missense |
62/68 |
- |
9-21971092-C-A |
CDKN2A |
c.266G>T |
p.G89V |
Missense |
2/3 |
- |
2-178098816-C-G |
NFE2L2 |
c.229G>C |
p.D77H |
Missense |
2/5 |
- |
19-11141502-G-T |
SMARCA4 |
c.3479G>T |
p.G1160V |
Missense |
25/35 |
- |
1-120612013-GC-AA |
NOTCH2 |
c.7_8delGCinsTT |
p.A3F |
Missense |
1/34 |
- |
1-97700547-G-T |
DPYD |
c.2303C>A |
p.T768K |
Missense |
19/23 |
- |
2-141819820-C-A |
LRP1B |
c.1036G>T |
p.G346W |
Missense |
8/91 |
- |
3-41266495-A-G |
CTNNB1 |
c.292A>G |
p.M98V |
Missense |
4/15 |
- |
7-55273231-G-T |
EGFR |
c.3554G>T |
p.G1185V |
Missense |
28/28 |
- |
3-178938922-G-A |
PIK3CA |
c.2164G>A |
p.E722K |
Missense |
14/21 |
- |
1-158646019-G-T |
SPTA1 |
c.1024C>A |
p.Q342K |
Missense |
8/52 |
- |
19-11152043-C-T |
SMARCA4 |
c.4231C>T |
p.R1411W |
Missense |
30/35 |
- |
10-89685303-G-C |
PTEN |
c.198G>C |
p.K66N |
Missense |
3/9 |
- |
2-178095985-C-T |
NFE2L2 |
c.1346G>A |
p.R449H |
Missense |
5/5 |
- |
19-11144121-C-G |
SMARCA4 |
c.3702C>G |
p.F1234L |
Missense |
26/35 |
- |
19-11129655-G-A |
SMARCA4 |
c.2461G>A |
p.E821K |
Missense |
17/35 |
- |
9-139391526-G-A |
NOTCH1 |
c.6665C>T |
p.P2222L |
Missense |
34/34 |
- |
19-11096931-C-T |
SMARCA4 |
c.422C>T |
p.S141L |
Missense |
4/35 |
- |
1-158651439-G-A |
SPTA1 |
c.409C>T |
p.R137C |
Missense |
4/52 |
- |
19-18280037-C-T |
PIK3R2 |
c.2120C>T |
p.A707V |
Missense |
16/16 |
- |
2-25467408-C-T |
DNMT3A |
c.1667+1G>A |
- |
IntronicSNV |
- |
14/22 |
3-89448631-G-C |
EPHA3 |
c.1594+1G>C |
- |
IntronicSNV |
- |
7/16 |
12-46125084-C-T |
ARID2 |
c.271C>T |
p.Q91* |
Nonsense |
3/21 |
- |
10-70333863-C-T |
TET1 |
c.1768C>T |
p.R590* |
Nonsense |
2/12 |
- |
13-49039386-A-T |
RB1 |
c.2371A>T |
p.K791* |
Nonsense |
23/27 |
- |
21-36206817-C-A |
RUNX1 |
c.695G>T |
p.R232L |
Missense |
7/9 |
- |
17-7577017-A-C |
TP53 |
c.919+2T>G |
- |
IntronicSNV |
- |
8/10 |
16-2133701-G-A |
TSC2 |
c.3889G>A |
p.A1297T |
Missense |
33/42 |
- |
1-156830767-G-A |
NTRK1 |
c.41G>A |
p.S14N |
Missense |
1/17 |
- |
17-47696345-C-T |
SPOP |
c.478G>A |
p.E160K |
Missense |
5/10 |
- |
10-8100756-C-A |
GATA3 |
c.730C>A |
p.P244T |
Missense |
3/6 |
- |
15-50784950-C-T |
USP8 |
c.2287C>T |
p.R763W |
Missense |
15/20 |
- |
12-133241030-C-A |
POLE |
c.2487G>T |
p.M829I |
Missense |
22/49 |
- |
3-142268488-G-C |
ATR |
c.3004C>G |
p.L1002V |
Missense |
15/47 |
- |
16-23641488-G-A |
PALB2 |
c.1987C>T |
p.R663C |
Missense |
5/13 |
- |
2-48030591-G-C |
MSH6 |
c.3205G>C |
p.G1069R |
Missense |
5/10 |
- |
5-235284-G-A |
SDHA |
c.1090G>A |
p.V364I |
Missense |
9/15 |
- |
13-32907206-A-G |
BRCA2 |
c.1591A>G |
p.K531E |
Missense |
10/27 |
- |
13-32913339-T-G |
BRCA2 |
c.4847T>G |
p.L1616* |
Nonsense |
11/27 |
- |
16-3786715-A-G |
CREBBP |
c.4496T>C |
p.L1499P |
Missense |
27/31 |
- |
16-23634390-T-C |
PALB2 |
c.2896A>G |
p.I966V |
Missense |
9/13 |
- |
11-118344275-C-T |
KMT2A |
c.2401C>T |
p.H801Y |
Missense |
3/36 |
- |
5-112102900-A-G |
APC |
c.235A>G |
p.S79G |
Missense |
4/16 |
- |
3-138417834-C-T |
PIK3CB |
c.1685G>A |
p.R562Q |
Missense |
13/24 |
- |
4-143159104-C-T |
INPP4B |
c.749G>A |
p.R250Q |
Missense |
12/26 |
- |
X-53246390-G-A |
KDM5C |
c.592C>T |
p.R198* |
Nonsense |
5/26 |
- |
16-23646296-G-C |
PALB2 |
c.1571C>G |
p.S524* |
Nonsense |
4/13 |
- |
7-151216551-G-A |
RHEB |
c.47C>T |
p.S16F |
Missense |
1/8 |
- |
4-55524218-G-A |
KIT |
c.37G>A |
p.V13I |
Missense |
1/21 |
- |
7-151932990-C-T |
KMT2C |
c.2681G>A |
p.R894Q |
Missense |
16/59 |
- |
21-36421175-C-G |
RUNX1 |
c.22G>C |
p.E8Q |
Missense |
2/9 |
- |
11-108098419-G-A |
ATM |
c.68G>A |
p.R23Q |
Missense |
2/63 |
- |
19-54656314-G-A |
CNOT3 |
c.1855G>A |
p.E619K |
Missense |
15/18 |
- |
X-70360679-GGCA-G |
MED12 |
c.6256_6258delCAG |
p.Q2086del |
InFrameDeletion |
42/45 |
- |
17-7579409-CA-C |
TP53 |
c.278delT |
p.L93Rfs*30 |
Frameshift |
4/11 |
- |
11-2154241-TG-T |
IGF2 |
c.518delC |
p.P173Qfs*27 |
Frameshift |
4/4 |
- |
9-97864071-C-T |
FANCC |
c.1595G>A |
p.R532K |
Missense |
15/15 |
- |
16-3801807-C-G |
CREBBP |
c.3699G>C |
p.R1233S |
Missense |
20/31 |
- |
2-48028222-C-T |
MSH6 |
c.3100C>T |
p.R1034W |
Missense |
4/10 |
- |
1-27059197-G-T |
ARID1A |
c.1834G>T |
p.A612S |
Missense |
4/20 |
- |
16-3779205-G-A |
CREBBP |
c.5843C>T |
p.P1948L |
Missense |
31/31 |
- |
1-78428481-G-A |
FUBP1 |
c.1318C>T |
p.R440W |
Missense |
14/20 |
- |
11-532738-G-C |
HRAS |
c.468C>G |
p.F156L |
Missense |
5/6 |
- |
1-156841515-G-A |
NTRK1 |
c.818G>A |
p.R273Q |
Missense |
7/17 |
- |
16-23637693-T-C |
PALB2 |
c.2612A>G |
p.D871G |
Missense |
7/13 |
- |
5-228417-A-G |
SDHA |
c.739A>G |
p.I247V |
Missense |
6/15 |
- |
12-49441815-G-GC |
KMT2D |
c.4168_4168dup |
p.A1390Gfs*42 |
Frameshift |
15/55 |
- |
19-11144147-G-T |
SMARCA4 |
c.3728G>T |
p.R1243L |
Missense |
26/35 |
- |
1-27059213-C-A |
ARID1A |
c.1850C>A |
p.S617* |
Nonsense |
4/20 |
- |
1-27059213-C-G |
ARID1A |
c.1850C>G |
p.S617* |
Nonsense |
4/20 |
- |
2-141072604-C-A |
LRP1B |
c.12705G>T |
p.L4235F |
Missense |
83/91 |
- |
12-49426972-TG-T |
KMT2D |
c.11515delC |
p.Q3839Sfs*42 |
Frameshift |
40/55 |
- |
17-29588782-C-T |
NF1 |
c.4631C>T |
p.A1544V |
Missense |
35/58 |
- |
2-16082638-G-A |
MYCN |
c.452G>A |
p.G151E |
Missense |
2/3 |
- |
1-11307790-C-G |
MTOR |
c.1117G>C |
p.V373L |
Missense |
8/58 |
- |
16-23646541-A-T |
PALB2 |
c.1326T>A |
p.N442K |
Missense |
4/13 |
- |
2-47600986-G-A |
EPCAM |
c.224G>A |
p.G75D |
Missense |
3/9 |
- |
15-42054402-G-A |
MGA |
c.7586G>A |
p.R2529K |
Missense |
22/24 |
- |
16-23647577-G-T |
PALB2 |
c.290C>A |
p.S97Y |
Missense |
4/13 |
- |
16-23647548-A-T |
PALB2 |
c.319T>A |
p.F107I |
Missense |
4/13 |
- |
9-139418358-C-T |
NOTCH1 |
c.214G>A |
p.G72R |
Missense |
3/34 |
- |
9-98224149-C-T |
PTCH1 |
c.2692G>A |
p.D898N |
Missense |
16/24 |
- |
2-17955667-C-T |
GEN1 |
c.1201C>T |
p.R401* |
Nonsense |
11/14 |
- |
11-108139218-G-T |
ATM |
c.2720G>T |
p.C907F |
Missense |
18/63 |
- |
15-91354582-C-T |
BLM |
c.4022C>T |
p.A1341V |
Missense |
21/22 |
- |
11-108196147-C-T |
ATM |
c.6683C>T |
p.T2228I |
Missense |
46/63 |
- |
14-95579436-G-A |
DICER1 |
c.2033C>T |
p.S678F |
Missense |
12/27 |
- |
22-29095911-T-C |
CHEK2 |
c.923A>G |
p.E308G |
Missense |
9/15 |
- |
16-23649402-C-T |
PALB2 |
c.97G>A |
p.A33T |
Missense |
2/13 |
- |
19-2202745-C-T |
DOT1L |
c.754C>T |
p.Q252* |
Nonsense |
9/28 |
- |
19-50919693-C-T |
POLD1 |
c.2861C>T |
p.T954M |
Missense |
23/27 |
- |
13-28611358-C-T |
FLT3 |
c.1273G>A |
p.A425T |
Missense |
10/24 |
- |
5-223642-G-A |
SDHA |
c.109G>A |
p.V37I |
Missense |
2/15 |
- |
5-112174667-A-G |
APC |
c.3376A>G |
p.S1126G |
Missense |
16/16 |
- |
6-43746655-A-G |
VEGFA |
c.962A>G |
p.K321R |
Missense |
5/8 |
- |
9-133759794-G-T |
ABL1 |
c.2117G>T |
p.G706V |
Missense |
11/11 |
- |
14-95582861-T-C |
DICER1 |
c.1681A>G |
p.I561V |
Missense |
10/27 |
- |
5-112175007-G-A |
APC |
c.3716G>A |
p.R1239K |
Missense |
16/16 |
- |
2-215645591-C-T |
BARD1 |
c.1007G>A |
p.C336Y |
Missense |
4/11 |
- |
8-139163927-G-A |
FAM135B |
c.2791C>T |
p.Q931* |
Nonsense |
13/20 |
- |
15-50784955-C-G |
USP8 |
c.2292C>G |
p.N764K |
Missense |
15/20 |
- |
22-21336775-G-A |
LZTR1 |
c.115G>A |
p.E39K |
Missense |
1/21 |
- |
2-16086016-C-T |
MYCN |
c.1192C>T |
p.R398W |
Missense |
3/3 |
- |
11-108122627-G-T |
ATM |
c.1671G>T |
p.M557I |
Missense |
11/63 |
- |
2-30143140-C-A |
ALK |
c.386G>T |
p.G129V |
Missense |
1/29 |
- |
4-55127370-G-C |
PDGFRA |
c.158G>C |
p.S53T |
Missense |
3/23 |
- |
18-48591865-C-A |
SMAD4 |
c.1028C>A |
p.S343* |
Nonsense |
9/12 |
- |
2-141625202-C-A |
LRP1B |
c.4536G>T |
p.Q1512H |
Missense |
27/91 |
- |
5-79950724-G-GCCGCAGCGGCCGCAGCGC |
MSH3 |
c.186_187insGCCGCAGCGCCCGCAGCG |
p.A62_P63insAAAPAA |
InFrameInsertion |
1/24 |
- |
12-12022747-G-A |
ETV6 |
c.853G>A |
p.V285M |
Missense |
5/8 |
- |
9-87635188-C-T |
NTRK2 |
c.2240C>T |
p.T747M |
Missense |
18/19 |
- |
8-139153531-G-A |
FAM135B |
c.3700C>T |
p.R1234W |
Missense |
17/20 |
- |
19-50905288-C-T |
POLD1 |
c.496C>T |
p.R166W |
Missense |
5/27 |
- |
2-141081590-T-C |
LRP1B |
c.12386A>G |
p.Y4129C |
Missense |
81/91 |
- |
20-31023070-C-A |
ASXL1 |
c.2555C>A |
p.S852* |
Nonsense |
13/13 |
- |
15-66727451-CAGAAGCAGAAGGTGG-C |
MAP2K1 |
c.167_181del15 |
p.Q56_G61delinsR |
MultiAAMissense |
2/11 |
- |
16-23641736-T-C |
PALB2 |
c.1739A>G |
p.Y580C |
Missense |
5/13 |
- |
16-23634425-T-C |
PALB2 |
c.2861A>G |
p.E954G |
Missense |
9/13 |
- |
7-6026636-C-T |
PMS2 |
c.1760G>A |
p.S587N |
Missense |
11/15 |
- |
17-59858307-T-C |
BRIP1 |
c.1688A>G |
p.D563G |
Missense |
12/20 |
- |
7-81334774-C-G |
HGF |
c.1942G>C |
p.G648R |
Missense |
17/18 |
- |
16-9858370-G-A |
GRIN2A |
c.3031C>T |
p.R1011W |
Missense |
13/13 |
- |
5-11385274-CGCG-C |
CTNND2 |
c.677_679delCGC |
p.P226del |
InFrameDeletion |
7/22 |
- |
8-139164546-G-T |
FAM135B |
c.2172C>A |
p.H724Q |
Missense |
13/20 |
- |
15-91312406-A-G |
BLM |
c.2351A>G |
p.Y784C |
Missense |
11/22 |
- |
19-10602748-G-A |
KEAP1 |
c.830C>T |
p.T277M |
Missense |
3/6 |
- |
2-48026609-G-A |
MSH6 |
c.1487G>A |
p.C496Y |
Missense |
4/10 |
- |
19-1219381-G-T |
STK11 |
c.433G>T |
p.E145* |
Nonsense |
3/10 |
- |
3-134825379-C-A |
EPHB1 |
c.895C>A |
p.P299T |
Missense |
4/16 |
- |
1-3342296-G-T |
PRDM16 |
c.3091G>T |
p.E1031* |
Nonsense |
13/17 |
- |
1-241682991-G-C |
FH |
c.32C>G |
p.S11W |
Missense |
1/10 |
- |
16-23647094-C-T |
PALB2 |
c.773G>A |
p.S258N |
Missense |
4/13 |
- |
3-10088285-T-G |
FANCD2 |
c.1156T>G |
p.F386V |
Missense |
15/44 |
- |
7-73513529-G-C |
LIMK1 |
c.569G>C |
p.G190A |
Missense |
5/16 |
- |
16-2124355-C-G |
TSC2 |
c.2510C>G |
p.A837G |
Missense |
22/42 |
- |
4-55964373-C-T |
KDR |
c.2440G>A |
p.D814N |
Missense |
17/30 |
- |
17-66526086-G-A |
PRKAR1A |
c.917G>A |
p.R306Q |
Missense |
10/11 |
- |
14-81609975-T-C |
TSHR |
c.1573T>C |
p.F525L |
Missense |
10/10 |
- |
9-35074166-G-A |
FANCG |
c.1808C>T |
p.S603F |
Missense |
14/14 |
- |
12-25398213-T-A |
KRAS |
c.106A>T |
p.I36L |
Missense |
2/5 |
- |
11-32450067-G-T |
WT1 |
c.760C>A |
p.P254T |
missense_variant |
2/10 |
- |
5-131924538-A-G |
RAD50 |
c.1211A>G |
p.Q404R |
Missense |
8/25 |
- |
17-59820429-T-C |
BRIP1 |
c.2324A>G |
p.N775S |
Missense |
16/20 |
- |
16-89836354-G-A |
FANCA |
c.2395C>T |
p.P799S |
Missense |
26/43 |
- |
16-89849320-T-C |
FANCA |
c.1573A>G |
p.I525V |
Missense |
17/43 |
- |
17-33325636-C-T |
LIG3 |
c.2003C>T |
p.P668L |
Missense |
14/20 |
- |
16-23649233-T-G |
PALB2 |
c.149A>C |
p.K50T |
Missense |
3/13 |
- |
13-34392361-C-G |
RFC3 |
c.46C>G |
p.L16V |
Missense |
1/9 |
- |
9-35079467-T-C |
FANCG |
c.55A>G |
p.K19E |
Missense |
1/14 |
- |
17-41197702-T-A |
BRCA1 |
c.5585A>T |
p.H1862L |
Missense |
23/23 |
- |
12-46245317-CAG-C |
ARID2 |
c.3411_3412delAG |
p.G1139Sfs*20 |
Frameshift |
15/21 |
- |
15-91346870-T-C |
BLM |
c.3478T>C |
p.Y1160H |
Missense |
18/22 |
- |
4-1369242-C-T |
UVSSA |
c.1379C>T |
p.A460V |
Missense |
9/14 |
- |
4-87671947-C-T |
PTPN13 |
c.2975C>T |
p.P992L |
Missense |
18/48 |
- |
16-23641332-C-T |
PALB2 |
c.2143G>A |
p.D715N |
Missense |
5/13 |
- |
16-23646878-T-C |
PALB2 |
c.989A>G |
p.N330S |
Missense |
4/13 |
- |
5-67591145-ATACTTGATGT-A |
PIK3R1 |
c.1738_1745+2delTACTTGATGT |
- |
SpliceDonorDeletion |
13/16 |
13/15 |
19-11123788-C-T |
SMARCA4 |
c.2438C>T |
p.S813L |
Missense |
16/35 |
- |
1-158596707-C-A |
SPTA1 |
c.5755G>T |
p.A1919S |
Missense |
41/52 |
- |
4-25677901-ATCT-A |
SLC34A2 |
c.1612_1614delTTC |
p.F538del |
InFrameDeletion |
13/13 |
- |
3-52623085-C-G |
PBRM1 |
c.2965+1G>C |
- |
IntronicSNV |
- |
19/29 |
7-140508704-C-T |
BRAF |
c.596G>A |
p.R199K |
Missense |
4/18 |
- |
12-49431142-G-A |
KMT2D |
c.9997C>T |
p.Q3333* |
Nonsense |
35/55 |
- |
15-91310200-C-G |
BLM |
c.2254C>G |
p.Q752E |
Missense |
10/22 |
- |
3-183225879-C-A |
KLHL6 |
c.877G>T |
p.E293* |
Nonsense |
3/7 |
- |
15-88678508-C-A |
NTRK3 |
c.1028G>T |
p.R343L |
Missense |
10/20 |
- |
19-10602257-C-A |
KEAP1 |
c.1321G>T |
p.E441* |
Nonsense |
3/6 |
- |
5-24535297-C-A |
CDH10 |
c.738G>T |
p.M246I |
Missense |
5/12 |
- |
19-1207045-C-T |
STK11 |
c.133C>T |
p.L45F |
Missense |
1/10 |
- |
13-48951166-C-G |
RB1 |
c.1328C>G |
p.S443* |
Nonsense |
13/27 |
- |
3-183217537-C-T |
KLHL6 |
c.988G>A |
p.D330N |
Missense |
4/7 |
- |
5-24509793-C-A |
CDH10 |
c.1138G>T |
p.E380* |
Nonsense |
7/12 |
- |
12-124885199-G-A |
NCOR2 |
c.1661C>T |
p.S554L |
Missense |
17/49 |
- |
2-141812693-G-T |
LRP1B |
c.1544C>A |
p.S515* |
Nonsense |
10/91 |
- |
20-40733255-C-A |
PTPRT |
c.3494G>T |
p.R1165M |
Missense |
25/31 |
- |
8-139153549-G-T |
FAM135B |
c.3682C>A |
p.L1228I |
Missense |
17/20 |
- |
17-29683579-G-T |
NF1 |
c.7717G>T |
p.A2573S |
Missense |
52/58 |
- |
2-141108376-C-A |
LRP1B |
c.11882G>T |
p.S3961I |
Missense |
77/91 |
- |
2-141055406-G-T |
LRP1B |
c.12938C>A |
p.P4313Q |
Missense |
84/91 |
- |
1-150551619-C-T |
MCL1 |
c.388G>A |
p.E130K |
Missense |
1/3 |
- |
12-57559904-G-T |
LRP1 |
c.2709G>T |
p.E903D |
Missense |
17/89 |
- |
2-141773407-C-A |
LRP1B |
c.2048G>T |
p.G683V |
Missense |
13/91 |
- |
1-158637678-C-A |
SPTA1 |
c.2008G>T |
p.E670* |
Nonsense |
15/52 |
- |
4-20482357-G-T |
SLIT2 |
c.486G>T |
p.Q162H |
Missense |
6/37 |
- |
12-57571248-G-T |
LRP1 |
c.4235G>T |
p.R1412L |
Missense |
26/89 |
- |
9-139397646-C-A |
NOTCH1 |
c.5155G>T |
p.E1719* |
Nonsense |
27/34 |
- |
7-142658027-G-A |
KEL |
c.388C>T |
p.R130W |
Missense |
4/19 |
- |
4-55570043-A-G |
KIT |
c.910A>G |
p.T304A |
Missense |
5/21 |
- |
4-55133537-A-G |
PDGFRA |
c.841A>G |
p.T281A |
Missense |
6/23 |
- |
4-20469422-G-T |
SLIT2 |
c.443G>T |
p.R148L |
Missense |
5/37 |
- |
4-55146592-G-A |
PDGFRA |
c.2266G>A |
p.D756N |
Missense |
16/23 |
- |
22-21336817-C-T |
LZTR1 |
c.157C>T |
p.R53C |
Missense |
1/21 |
- |
22-24143216-A-G |
SMARCB1 |
c.448A>G |
p.T150A |
Missense |
4/9 |
- |
X-47034471-C-T |
RBM10 |
c.556C>T |
p.R186* |
Nonsense |
6/24 |
- |
3-10183835-C-T |
VHL |
c.304C>T |
p.P102S |
Missense |
1/3 |
- |
5-24537654-C-A |
CDH10 |
c.361G>T |
p.E121* |
Nonsense |
3/12 |
- |
2-16082736-G-T |
MYCN |
c.550G>T |
p.A184S |
Missense |
2/3 |
- |
22-29091732-C-T |
CHEK2 |
c.1225G>A |
p.D409N |
Missense |
11/15 |
- |
1-158609722-C-G |
SPTA1 |
c.4813G>C |
p.E1605Q |
Missense |
34/52 |
- |
9-2039815-GCAA-G |
SMARCA2 |
c.708_710delACA |
p.Q238del |
InFrameDeletion |
4/34 |
- |
16-2134692-A-G |
TSC2 |
c.4469A>G |
p.E1490G |
Missense |
34/42 |
- |
19-11169554-G-T |
SMARCA4 |
c.4624G>T |
p.E1542* |
Nonsense |
32/35 |
- |
9-98241377-C-A |
PTCH1 |
c.1120G>T |
p.E374* |
Nonsense |
8/24 |
- |
1-158592778-G-T |
SPTA1 |
c.6115C>A |
p.Q2039K |
Missense |
43/52 |
- |
3-178938908-A-G |
PIK3CA |
c.2150A>G |
p.D717G |
Missense |
14/21 |
- |
7-116415105-C-A |
MET |
c.3199C>A |
p.Q1067K |
Missense |
15/21 |
- |
2-100024580-C-G |
REV1 |
c.2359G>C |
p.D787H |
Missense |
15/23 |
- |
1-16257043-G-T |
SPEN |
c.4308G>T |
p.L1436F |
Missense |
11/15 |
- |
1-158654938-A-G |
SPTA1 |
c.224T>C |
p.I75T |
Missense |
2/52 |
- |
17-29509666-G-GA |
NF1 |
c.872_872dup |
p.N292Kfs*5 |
Frameshift |
8/58 |
- |
10-89720868-AT-A |
PTEN |
c.1023delT |
p.F341Lfs*3 |
Frameshift |
8/9 |
- |
22-19279131-G-T |
CLTCL1 |
c.34C>A |
p.H12N |
Missense |
1/33 |
- |
1-120459214-C-T |
NOTCH2 |
c.6131G>A |
p.R2044H |
Missense |
34/34 |
- |
1-158605704-G-A |
SPTA1 |
c.5431C>T |
p.R1811* |
Nonsense |
38/52 |
- |
17-7579340-G-C |
TP53 |
c.347C>G |
p.S116C |
Missense |
4/11 |
- |
19-1220410-A-T |
STK11 |
c.503A>T |
p.H168L |
Missense |
4/10 |
- |
13-34398073-T-A |
RFC3 |
c.245T>A |
p.I82N |
Missense |
3/9 |
- |
11-69456106-G-A |
CCND1 |
c.25G>A |
p.E9K |
Missense |
1/5 |
- |
16-23646559-C-A |
PALB2 |
c.1308G>T |
p.K436N |
Missense |
4/13 |
- |
2-47635629-G-C |
MSH2 |
c.301G>C |
p.E101Q |
Missense |
2/16 |
- |
11-108119818-T-A |
ATM |
c.1224T>A |
p.D408E |
Missense |
9/63 |
- |
16-23652436-C-A |
PALB2 |
c.43G>T |
p.E15* |
Nonsense |
1/13 |
- |
17-29554310-G-T |
NF1 |
c.2325+1G>T |
- |
IntronicSNV |
- |
19/57 |
9-98221936-G-A |
PTCH1 |
c.2833C>T |
p.R945* |
Nonsense |
17/24 |
- |
2-173420900-C-T |
PDK1 |
c.22C>T |
p.R8C |
Missense |
1/11 |
- |
19-10597488-T-C |
KEAP1 |
c.1715A>G |
p.Y572C |
Missense |
6/6 |
- |
9-98240371-C-T |
PTCH1 |
c.1313G>A |
p.S438N |
Missense |
9/24 |
- |
13-110435327-G-A |
IRS2 |
c.3074C>T |
p.P1025L |
Missense |
1/2 |
- |
15-88678617-C-T |
NTRK3 |
c.919G>A |
p.V307M |
Missense |
10/20 |
- |
9-2186225-G-A |
SMARCA2 |
c.4591G>A |
p.E1531K |
Missense |
32/34 |
- |
2-178098977-A-G |
NFE2L2 |
c.68T>C |
p.L23P |
Missense |
2/5 |
- |
5-149510201-C-T |
PDGFRB |
c.1268G>A |
p.S423N |
Missense |
9/23 |
- |
7-148544344-C-A |
EZH2 |
c.47G>T |
p.R16L |
Missense |
2/20 |
- |
X-47041699-A-T |
RBM10 |
c.1924A>T |
p.K642* |
Nonsense |
17/24 |
- |
17-29552189-G-A |
NF1 |
c.1922G>A |
p.S641N |
Missense |
17/58 |
- |
16-72829710-G-A |
ZFHX3 |
c.6871C>T |
p.Q2291* |
Nonsense |
9/10 |
- |
21-36164646-G-A |
RUNX1 |
c.1229C>T |
p.S410L |
Missense |
9/9 |
- |
4-187541988-T-C |
FAT1 |
c.5752A>G |
p.I1918V |
Missense |
10/27 |
- |
13-48941684-G-T |
RB1 |
c.994G>T |
p.D332Y |
Missense |
10/27 |
- |
7-148464815-G-A |
CUL1 |
c.1057G>A |
p.E353K |
Missense |
9/22 |
- |
16-3778455-A-T |
CREBBP |
c.6593T>A |
p.L2198Q |
Missense |
31/31 |
- |
3-142297514-C-T |
ATR |
c.33G>A |
p.M11I |
Missense |
1/47 |
- |
3-134920337-G-A |
EPHB1 |
c.2152G>A |
p.V718M |
Missense |
12/16 |
- |
17-7578371-C-G |
TP53 |
c.559G>C |
p.G187R |
Missense |
5/11 |
- |
5-180039609-C-T |
FLT4 |
c.3434G>A |
p.R1145H |
Missense |
26/30 |
- |
12-56480335-T-C |
ERBB3 |
c.442T>C |
p.Y148H |
Missense |
4/28 |
- |
2-30143341-G-C |
ALK |
c.185C>G |
p.S62W |
Missense |
1/29 |
- |
16-23614908-C-T |
PALB2 |
c.3433G>A |
p.G1145S |
Missense |
13/13 |
- |
16-2122886-G-A |
TSC2 |
c.2257G>A |
p.A753T |
Missense |
21/42 |
- |
X-47041723-C-T |
RBM10 |
c.1948C>T |
p.Q650* |
Nonsense |
17/24 |
- |
22-41560115-G-T |
EP300 |
c.3787G>T |
p.E1263* |
Nonsense |
22/31 |
- |
11-94204896-G-A |
MRE11 |
c.689C>T |
p.P230L |
Missense |
8/20 |
- |
4-187628266-G-A |
FAT1 |
c.2716C>T |
p.Q906* |
Nonsense |
2/27 |
- |
6-138199888-G-A |
TNFAIP3 |
c.1306G>A |
p.G436R |
Missense |
7/9 |
- |
2-29462617-T-C |
ALK |
c.2284A>G |
p.I762V |
Missense |
13/29 |
- |
19-10610178-G-A |
KEAP1 |
c.532C>T |
p.Q178* |
Nonsense |
2/6 |
- |
9-21971098-C-T |
CDKN2A |
c.260G>A |
p.R87Q |
Missense |
2/3 |
- |
7-116414971-G-A |
MET |
c.3065G>A |
p.R1022Q |
Missense |
15/21 |
- |
1-11199373-C-G |
MTOR |
c.5118G>C |
p.K1706N |
Missense |
36/58 |
- |
12-49426355-G-A |
KMT2D |
c.12133C>T |
p.Q4045* |
Nonsense |
40/55 |
- |
16-72821609-G-GCCA |
ZFHX3 |
c.10565_10566insTGG |
p.G3527dup |
InFrameInsertion |
10/10 |
- |
2-30142927-C-G |
ALK |
c.599G>C |
p.R200T |
Missense |
1/29 |
- |
1-11303223-G-A |
MTOR |
c.1360C>T |
p.R454C |
Missense |
9/58 |
- |
5-176523292-G-A |
FGFR4 |
c.1949G>A |
p.R650H |
Missense |
15/18 |
- |
7-142459771-G-A |
PRSS1 |
c.347G>A |
p.R116H |
Missense |
3/5 |
- |
13-48955457-G-A |
RB1 |
c.1573G>A |
p.A525T |
Missense |
17/27 |
- |
9-98238342-G-C |
PTCH1 |
c.1702C>G |
p.P568A |
Missense |
12/24 |
- |
3-10107658-C-T |
FANCD2 |
c.2380C>T |
p.R794* |
Nonsense |
25/44 |
- |
16-89874739-C-G |
FANCA |
c.559G>C |
p.V187L |
Missense |
6/43 |
- |
2-29455173-C-T |
ALK |
c.2629G>A |
p.A877T |
Missense |
15/29 |
- |
X-39933640-G-A |
BCOR |
c.959C>T |
p.A320V |
Missense |
4/15 |
- |
12-69207406-G-C |
MDM2 |
c.172G>C |
p.E58Q |
Missense |
3/11 |
- |
22-41489069-C-G |
EP300 |
c.61C>G |
p.P21A |
Missense |
1/31 |
- |
9-93626926-C-T |
SYK |
c.773C>T |
p.P258L |
Missense |
5/14 |
- |
11-119155706-A-G |
CBL |
c.1459A>G |
p.M487V |
Missense |
10/16 |
- |
3-134644700-G-T |
EPHB1 |
c.101G>T |
p.W34L |
Missense |
2/16 |
- |
2-178098882-C-G |
NFE2L2 |
c.163G>C |
p.E55Q |
Missense |
2/5 |
- |
7-151859653-T-C |
KMT2C |
c.11009A>G |
p.N3670S |
Missense |
43/59 |
- |
6-152265484-G-A |
ESR1 |
c.937G>A |
p.D313N |
Missense |
4/8 |
- |
17-41244901-C-T |
BRCA1 |
c.2647G>A |
p.A883T |
Missense |
10/23 |
- |
17-7578457-GC-G |
TP53 |
c.473delG |
p.R158Pfs*12 |
Frameshift |
5/11 |
- |
X-70356243-G-T |
MED12 |
c.5138G>T |
p.R1713L |
Missense |
37/45 |
- |
7-81374372-C-A |
HGF |
c.690G>T |
p.K230N |
Missense |
6/18 |
- |
17-7577035-CT-C |
TP53 |
c.903delA |
p.S303Afs*42 |
Frameshift |
8/11 |
- |
16-23632737-T-C |
PALB2 |
c.3059A>G |
p.Q1020R |
Missense |
10/13 |
- |
16-23632714-C-G |
PALB2 |
c.3082G>C |
p.G1028R |
Missense |
10/13 |
- |
1-156838353-G-A |
NTRK1 |
c.631G>A |
p.V211M |
Missense |
6/17 |
- |
13-26928012-G-A |
CDK8 |
c.451G>A |
p.D151N |
Missense |
4/13 |
- |
16-11348892-G-T |
SOCS1 |
c.444C>A |
p.F148L |
Missense |
2/2 |
- |
1-11190590-G-C |
MTOR |
c.5609C>G |
p.T1870S |
Missense |
39/58 |
- |
19-19257570-C-T |
MEF2B |
c.656G>A |
p.R219Q |
Missense |
6/9 |
- |
3-89499444-G-A |
EPHA3 |
c.2614G>A |
p.E872K |
Missense |
15/17 |
- |
12-46246523-T-TA |
ARID2 |
c.4618dupA |
p.T1540Nfs*4 |
Frameshift |
15/21 |
- |
2-47698140-T-A |
MSH2 |
c.1698T>A |
p.N566K |
Missense |
11/16 |
- |
16-23641422-TG-T |
PALB2 |
c.2052delC |
p.R686Gfs*23 |
Frameshift |
5/13 |
- |
1-27023762-A-G |
ARID1A |
c.868A>G |
p.T290A |
Missense |
1/20 |
- |
10-43612057-G-A |
RET |
c.2162G>A |
p.R721Q |
Missense |
12/20 |
- |
17-37618715-G-A |
CDK12 |
c.391G>A |
p.E131K |
Missense |
1/14 |
- |
10-43572762-T-C |
RET |
c.56T>C |
p.L19P |
Missense |
1/20 |
- |
5-131978019-A-G |
RAD50 |
c.3902A>G |
p.K1301R |
Missense |
25/25 |
- |
2-141294168-C-A |
LRP1B |
c.7624G>T |
p.E2542* |
Nonsense |
46/91 |
- |
1-11199444-G-A |
MTOR |
c.5047C>T |
p.R1683W |
Missense |
36/58 |
- |
12-133218901-G-A |
POLE |
c.5035C>T |
p.R1679C |
Missense |
38/49 |
- |
10-70450664-C-T |
TET1 |
c.5504C>T |
p.P1835L |
Missense |
12/12 |
- |
15-91310239-G-A |
BLM |
c.2293G>A |
p.V765I |
Missense |
10/22 |
- |
6-106552940-G-A |
PRDM1 |
c.905G>A |
p.R302Q |
Missense |
5/7 |
- |
2-25459868-C-A |
DNMT3A |
c.2415G>T |
p.L805F |
Missense |
21/23 |
- |
17-7577048-T-G |
TP53 |
c.890A>C |
p.H297P |
Missense |
8/11 |
- |
2-25459868-C-G |
DNMT3A |
c.2415G>C |
p.L805F |
Missense |
21/23 |
- |
12-12006456-A-T |
ETV6 |
c.424A>T |
p.T142S |
Missense |
4/8 |
- |
12-49441815-GC-G |
KMT2D |
c.4168delG |
p.A1390Qfs*27 |
Frameshift |
15/55 |
- |
21-36164607-C-T |
RUNX1 |
c.1268G>A |
p.R423H |
Missense |
9/9 |
- |
2-25467139-T-C |
DNMT3A |
c.1736A>G |
p.D579G |
Missense |
15/23 |
- |
22-23596108-A-G |
BCR |
c.1402A>G |
p.S468G |
Missense |
2/23 |
- |
19-10469924-C-G |
TYK2 |
c.2102G>C |
p.R701T |
Missense |
15/25 |
- |
2-25458628-G-T |
DNMT3A |
c.2545C>A |
p.P849T |
Missense |
22/23 |
- |
19-10475547-G-A |
TYK2 |
c.1189C>T |
p.R397W |
Missense |
8/25 |
- |
7-140481480-C-G |
BRAF |
c.1328G>C |
p.R443T |
Missense |
11/18 |
- |
6-152332849-G-T |
ESR1 |
c.1155G>T |
p.E385D |
Missense |
5/8 |
- |
7-55223636-A-C |
EGFR |
c.1003A>C |
p.K335Q |
Missense |
8/28 |
- |
11-32456683-C-T |
WT1 |
c.209G>A |
p.G75D |
Missense |
1/10 |
- |
2-48027283-A-G |
MSH6 |
c.2161A>G |
p.R721G |
Missense |
4/10 |
- |
2-47657008-C-G |
MSH2 |
c.1204C>G |
p.Q402E |
Missense |
7/16 |
- |
3-128200062-C-T |
GATA2 |
c.1243G>A |
p.E415K |
Missense |
6/6 |
- |
12-57589969-C-T |
LRP1 |
c.8801C>T |
p.S2934L |
Missense |
55/89 |
- |
3-51680401-G-T |
RAD54L2 |
c.2930G>T |
p.R977L |
Missense |
19/23 |
- |
6-152420091-C-A |
ESR1 |
c.1778C>A |
p.A593D |
Missense |
8/8 |
- |
13-48934251-A-T |
RB1 |
c.706A>T |
p.K236* |
Nonsense |
7/27 |
- |
3-37067437-G-T |
MLH1 |
c.1348G>T |
p.D450Y |
Missense |
12/19 |
- |
4-187535345-C-A |
FAT1 |
c.9229G>T |
p.G3077C |
Missense |
12/27 |
- |
2-48010536-C-T |
MSH6 |
c.164C>T |
p.P55L |
Missense |
1/10 |
- |
1-158644175-T-C |
SPTA1 |
c.1294A>G |
p.T432A |
Missense |
10/52 |
- |
16-23647106-G-A |
PALB2 |
c.761C>T |
p.S254L |
Missense |
4/13 |
- |
X-39933940-G-A |
BCOR |
c.659C>T |
p.A220V |
Missense |
4/15 |
- |
10-8100582-T-C |
GATA3 |
c.556T>C |
p.Y186H |
Missense |
3/6 |
- |
7-42006050-C-T |
GLI3 |
c.2621G>A |
p.R874H |
Missense |
15/15 |
- |
10-8097647-G-T |
GATA3 |
c.29G>T |
p.W10L |
Missense |
2/6 |
- |
16-81979858-G-A |
PLCG2 |
c.3560G>A |
p.R1187Q |
Missense |
31/33 |
- |
10-8100602-C-A |
GATA3 |
c.576C>A |
p.D192E |
Missense |
3/6 |
- |
8-41563662-C-T |
ANK1 |
c.2096G>A |
p.R699Q |
Missense |
18/43 |
- |
18-18547759-T-C |
ROCK1 |
c.3146A>G |
p.N1049S |
Missense |
26/33 |
- |
10-70332613-T-C |
TET1 |
c.518T>C |
p.I173T |
Missense |
2/12 |
- |
14-95572101-G-A |
DICER1 |
c.3007C>T |
p.R1003* |
Nonsense |
19/27 |
- |
21-36164539-G-A |
RUNX1 |
c.1336C>T |
p.L446F |
Missense |
9/9 |
- |
3-128205181-G-C |
GATA2 |
c.260C>G |
p.P87R |
Missense |
3/6 |
- |
7-55249070-A-T |
EGFR |
c.2368A>T |
p.T790S |
Missense |
20/28 |
- |
10-84745186-G-A |
NRG3 |
c.1916G>A |
p.R639Q |
Missense |
9/9 |
- |
2-29432685-A-C |
ALK |
c.3803T>G |
p.I1268S |
Missense |
25/29 |
- |
12-57864192-C-T |
GLI1 |
c.1669C>T |
p.R557C |
Missense |
12/12 |
- |
2-29456502-G-C |
ALK |
c.2416C>G |
p.R806G |
Missense |
14/29 |
- |
1-156834171-C-A |
NTRK1 |
c.238C>A |
p.Q80K |
Missense |
2/17 |
- |
5-149499063-C-T |
PDGFRB |
c.2765G>A |
p.R922H |
Missense |
20/23 |
- |
16-23646411-T-C |
PALB2 |
c.1456A>G |
p.K486E |
Missense |
4/13 |
- |
11-32439155-C-A |
WT1 |
c.918G>T |
p.W311C |
Missense |
4/10 |
- |
15-91312674-C-T |
BLM |
c.2413C>T |
p.H805Y |
Missense |
12/22 |
- |
12-133245062-G-A |
POLE |
c.2053C>T |
p.R685W |
Missense |
19/49 |
- |
5-112173299-A-T |
APC |
c.2008A>T |
p.K670* |
Nonsense |
16/16 |
- |
5-251216-G-A |
SDHA |
c.1661G>A |
p.R554Q |
Missense |
12/15 |
- |
8-139209815-C-T |
FAM135B |
c.767G>A |
p.R256H |
Missense |
8/20 |
- |
19-13059959-C-T |
RAD23A |
c.665C>T |
p.P222L |
Missense |
6/9 |
- |
8-37687409-C-T |
ADGRA2 |
c.595C>T |
p.R199C |
Missense |
6/19 |
- |
16-3832751-G-A |
CREBBP |
c.1507C>T |
p.Q503* |
Nonsense |
6/31 |
- |
4-187557792-C-A |
FAT1 |
c.3919G>T |
p.G1307* |
Nonsense |
5/27 |
- |
8-103238196-G-A |
RRM2B |
c.271C>T |
p.H91Y |
Missense |
3/9 |
- |
6-35426107-C-T |
FANCE |
c.1003C>T |
p.Q335* |
Nonsense |
5/10 |
- |
17-1782605-G-A |
RPA1 |
c.856G>A |
p.V286I |
Missense |
10/17 |
- |
17-38510626-C-T |
RARA |
c.880C>T |
p.R294W |
Missense |
7/9 |
- |
17-38510642-A-G |
RARA |
c.896A>G |
p.N299S |
Missense |
7/9 |
- |
8-42821716-G-C |
HOOK3 |
c.880G>C |
p.D294H |
Missense |
10/22 |
- |
11-114112927-C-T |
ZBTB16 |
c.1492C>T |
p.R498C |
Missense |
5/7 |
- |
1-158614138-C-T |
SPTA1 |
c.4243G>A |
p.E1415K |
Missense |
30/52 |
- |
5-23522947-C-T |
PRDM9 |
c.835C>T |
p.R279* |
Nonsense |
8/11 |
- |
4-20620574-C-T |
SLIT2 |
c.4532C>T |
p.S1511F |
Missense |
37/37 |
- |
4-20570537-G-A |
SLIT2 |
c.2998G>A |
p.D1000N |
Missense |
29/37 |
- |
4-20544117-G-A |
SLIT2 |
c.2144G>A |
p.G715E |
Missense |
21/37 |
- |
1-27106333-G-A |
ARID1A |
c.5944G>A |
p.V1982I |
Missense |
20/20 |
- |
16-2636684-A-G |
PDPK1 |
c.1133A>G |
p.N378S |
Missense |
11/14 |
- |
2-141108409-C-A |
LRP1B |
c.11849G>T |
p.R3950M |
Missense |
77/91 |
- |
2-141680639-G-A |
LRP1B |
c.3214C>T |
p.R1072C |
Missense |
21/91 |
- |
17-17122403-G-A |
FLCN |
c.992C>T |
p.S331F |
Missense |
9/14 |
- |
3-60522595-C-A |
FHIT |
c.101G>T |
p.G34V |
Missense |
5/10 |
- |
3-134851687-G-T |
EPHB1 |
c.1093G>T |
p.A365S |
Missense |
5/16 |
- |
16-23646396-C-A |
PALB2 |
c.1471G>T |
p.A491S |
Missense |
4/13 |
- |
2-29917727-T-C |
ALK |
c.941A>G |
p.E314G |
Missense |
3/29 |
- |
12-58145367-C-T |
CDK4 |
c.134G>A |
p.G45D |
Missense |
2/8 |
- |
13-43155275-G-A |
TNFSF11 |
c.233G>A |
p.R78K |
Missense |
2/5 |
- |
X-76937401-G-C |
ATRX |
c.3347C>G |
p.S1116C |
Missense |
9/35 |
- |
20-54945344-G-A |
AURKA |
c.1082C>T |
p.S361L |
Missense |
9/9 |
- |
1-158615134-C-A |
SPTA1 |
c.4038G>T |
p.Q1346H |
Missense |
29/52 |
- |
11-102195343-A-G |
BIRC3 |
c.103A>G |
p.T35A |
Missense |
2/9 |
- |
2-225370723-C-T |
CUL3 |
c.1156G>A |
p.E386K |
Missense |
8/16 |
- |
8-139165348-C-T |
FAM135B |
c.1370G>A |
p.R457K |
Missense |
13/20 |
- |
3-30713909-G-T |
TGFBR2 |
c.1234G>T |
p.D412Y |
Missense |
4/7 |
- |
2-141946137-G-A |
LRP1B |
c.866C>T |
p.A289V |
Missense |
7/91 |
- |
16-2220634-G-A |
TRAF7 |
c.251G>A |
p.R84H |
Missense |
5/21 |
- |
12-133219305-C-T |
POLE |
c.4739G>A |
p.R1580Q |
Missense |
37/49 |
- |
13-32910701-G-A |
BRCA2 |
c.2209G>A |
p.A737T |
Missense |
11/27 |
- |
14-95574256-C-T |
DICER1 |
c.2611G>A |
p.D871N |
Missense |
16/27 |
- |
5-112178178-G-A |
APC |
c.6887G>A |
p.S2296N |
Missense |
16/16 |
- |
16-9858064-G-A |
GRIN2A |
c.3337C>T |
p.P1113S |
Missense |
13/13 |
- |
16-2115596-A-T |
TSC2 |
c.1676A>T |
p.D559V |
Missense |
16/42 |
- |
5-56168656-G-A |
MAP3K1 |
c.1510G>A |
p.E504K |
Missense |
9/20 |
- |
2-141299522-G-A |
LRP1B |
c.7213C>T |
p.P2405S |
Missense |
44/91 |
- |
9-8501056-G-T |
PTPRD |
c.1826C>A |
p.P609Q |
Missense |
24/46 |
- |
9-135776191-C-A |
TSC1 |
c.2536G>T |
p.E846* |
Nonsense |
20/23 |
- |
5-35875633-C-T |
IL7R |
c.820C>T |
p.P274S |
Missense |
7/8 |
- |
16-3777952-G-A |
CREBBP |
c.7096C>T |
p.R2366W |
Missense |
31/31 |
- |
12-46245243-G-A |
ARID2 |
c.3337G>A |
p.G1113R |
Missense |
15/21 |
- |
9-135804167-C-A |
TSC1 |
c.93G>T |
p.E31D |
Missense |
3/23 |
- |
10-43600522-C-T |
RET |
c.748C>T |
p.R250C |
Missense |
4/20 |
- |
7-137613006-G-A |
CREB3L2 |
c.209C>T |
p.P70L |
Missense |
2/12 |
- |
4-20525772-G-T |
SLIT2 |
c.1410G>T |
p.Q470H |
Missense |
14/37 |
- |
3-189526184-G-A |
TP63 |
c.448G>A |
p.A150T |
Missense |
4/14 |
- |
1-120458305-C-T |
NOTCH2 |
c.7040G>A |
p.R2347H |
Missense |
34/34 |
- |
3-183273288-C-T |
KLHL6 |
c.154G>A |
p.A52T |
Missense |
1/7 |
- |
5-176523730-G-GC |
FGFR4 |
c.2147dupC |
p.E717Rfs*8 |
Frameshift |
16/18 |
- |
3-142215345-A-G |
ATR |
c.5756T>C |
p.M1919T |
Missense |
34/47 |
- |
16-89805083-C-A |
FANCA |
c.4294G>T |
p.V1432L |
Missense |
43/43 |
- |
9-139409983-G-A |
NOTCH1 |
c.1855C>T |
p.Q619* |
Nonsense |
11/34 |
- |
1-91859839-T-A |
HFM1 |
c.305A>T |
p.D102V |
Missense |
4/39 |
- |
13-32911073-CA-C |
BRCA2 |
c.2588delA |
p.N863Ifs*11 |
Frameshift |
11/27 |
- |
16-72821959-C-CG |
ZFHX3 |
c.10215dupC |
p.G3406Rfs*25 |
Frameshift |
10/10 |
- |
6-146275963-C-CT |
SHPRH |
c.495dupA |
p.E166Rfs*7 |
Frameshift |
2/30 |
- |
7-151900080-AT-A |
KMT2C |
c.4030delA |
p.I1344* |
Frameshift |
26/59 |
- |
16-2130219-G-A |
TSC2 |
c.3451G>A |
p.G1151S |
Missense |
30/42 |
- |
5-86658451-TA-T |
RASA1 |
c.1421delA |
p.N474Tfs*9 |
Frameshift |
10/25 |
- |
7-81332019-C-A |
HGF |
c.2065G>T |
p.G689C |
Missense |
18/18 |
- |
3-133375611-C-T |
TOPBP1 |
c.454G>A |
p.G152S |
Missense |
5/28 |
- |
17-58701021-G-T |
PPM1D |
c.612G>T |
p.K204N |
Missense |
2/6 |
- |
11-108173745-C-T |
ATM |
c.5485C>T |
p.P1829S |
Missense |
36/63 |
- |
17-7579436-GC-G |
TP53 |
c.250delG |
p.A84Pfs*39 |
Frameshift |
4/11 |
- |
19-1218500-A-G |
STK11 |
c.374+1A>G |
- |
IntronicSNV |
- |
2/9 |
16-89833568-G-A |
FANCA |
c.2582C>T |
p.S861F |
Missense |
27/43 |
- |
16-89858890-G-C |
FANCA |
c.1072C>G |
p.L358V |
Missense |
12/43 |
- |
17-29496992-C-A |
NF1 |
c.563C>A |
p.A188E |
Missense |
5/58 |
- |
8-68956825-G-A |
PREX2 |
c.943G>A |
p.A315T |
Missense |
8/40 |
- |
4-187540305-G-A |
FAT1 |
c.7435C>T |
p.H2479Y |
Missense |
10/27 |
- |
17-57181746-C-T |
TRIM37 |
c.31G>A |
p.E11K |
Missense |
2/24 |
- |
5-80168985-A-G |
MSH3 |
c.3181A>G |
p.R1061G |
Missense |
23/24 |
- |
10-8100654-G-A |
GATA3 |
c.628G>A |
p.G210R |
Missense |
3/6 |
- |
1-11190765-C-T |
MTOR |
c.5434G>A |
p.D1812N |
Missense |
39/58 |
- |
1-158585172-C-T |
SPTA1 |
c.6622G>A |
p.A2208T |
Missense |
48/52 |
- |
2-109382731-T-G |
RANBP2 |
c.5736T>G |
p.S1912R |
Missense |
20/29 |
- |
20-31024233-T-C |
ASXL1 |
c.3718T>C |
p.C1240R |
Missense |
13/13 |
- |
9-21974730-CCAG-C |
CDKN2A |
c.94_96delCTG |
p.L32del |
InFrameDeletion |
1/3 |
- |
3-89391162-G-C |
EPHA3 |
c.1228G>C |
p.D410H |
Missense |
5/17 |
- |
16-89882381-C-G |
FANCA |
c.93G>C |
p.K31N |
Missense |
2/43 |
- |
11-32421568-C-T |
WT1 |
c.1024G>A |
p.D347N |
Missense |
6/10 |
- |
12-133237577-C-T |
POLE |
c.3038G>A |
p.W1013* |
Nonsense |
25/49 |
- |
2-234677040-C-T |
UGT1A5 |
c.1262C>T |
p.S421F |
Missense |
4/5 |
- |
4-187630278-C-A |
FAT1 |
c.704G>T |
p.S235I |
Missense |
2/27 |
- |
2-212248684-G-A |
ERBB4 |
c.3583C>T |
p.P1195S |
Missense |
28/28 |
- |
16-11000403-G-A |
CIITA |
c.1054G>A |
p.E352K |
Missense |
11/20 |
- |
X-70346843-G-T |
MED12 |
c.2710G>T |
p.E904* |
Nonsense |
20/45 |
- |
2-29498343-C-T |
ALK |
c.1837G>A |
p.A613T |
Missense |
10/29 |
- |
3-52443894-T-C |
BAP1 |
c.1A>G |
p.M1? |
Missense |
1/17 |
- |
5-112179557-A-G |
APC |
c.8266A>G |
p.I2756V |
Missense |
16/16 |
- |
22-30077482-G-C |
NF2 |
c.1629G>C |
p.K543N |
Missense |
15/16 |
- |
4-55131140-G-T |
PDGFRA |
c.683G>T |
p.G228V |
Missense |
5/23 |
- |
3-52623229-G-A |
PBRM1 |
c.2822C>T |
p.S941L |
Missense |
19/30 |
- |
16-89842176-C-T |
FANCA |
c.1874G>A |
p.C625Y |
Missense |
21/43 |
- |
1-156838381-G-A |
NTRK1 |
c.659G>A |
p.R220Q |
Missense |
6/17 |
- |
3-47161801-G-A |
SETD2 |
c.4325C>T |
p.S1442L |
Missense |
3/21 |
- |
19-17945780-C-T |
JAK3 |
c.2080G>A |
p.E694K |
Missense |
16/24 |
- |
15-88727457-G-T |
NTRK3 |
c.322C>A |
p.L108M |
Missense |
4/20 |
- |
13-29041075-T-A |
FLT1 |
c.353A>T |
p.K118M |
Missense |
3/30 |
- |
9-87317280-G-T |
NTRK2 |
c.305G>T |
p.G102V |
Missense |
4/19 |
- |
5-156665173-G-T |
ITK |
c.823G>T |
p.V275L |
Missense |
9/17 |
- |
15-88679802-C-A |
NTRK3 |
c.661G>T |
p.V221L |
Missense |
8/20 |
- |
11-108121562-G-C |
ATM |
c.1370G>C |
p.R457P |
Missense |
10/63 |
- |
9-87338624-G-C |
NTRK2 |
c.720G>C |
p.M240I |
Missense |
7/19 |
- |
5-148886653-C-A |
CSNK1A1 |
c.794G>T |
p.G265V |
Missense |
8/10 |
- |
19-4409685-G-A |
CHAF1A |
c.889G>A |
p.E297K |
Missense |
3/15 |
- |
3-130962292-G-A |
NEK11 |
c.1573G>A |
p.E525K |
Missense |
16/18 |
- |
10-83635422-G-T |
NRG3 |
c.326G>T |
p.G109V |
Missense |
1/9 |
- |
13-29002009-G-T |
FLT1 |
c.1156C>A |
p.R386S |
Missense |
9/30 |
- |
15-93482926-C-T |
CHD2 |
c.670C>T |
p.R224* |
Nonsense |
7/39 |
- |
X-47028875-C-G |
RBM10 |
c.179C>G |
p.S60* |
Nonsense |
3/24 |
- |
19-11107056-G-T |
SMARCA4 |
c.1761G>T |
p.K587N |
Missense |
10/35 |
- |
3-126708409-G-T |
PLXNA1 |
c.973G>T |
p.A325S |
Missense |
2/32 |
- |
X-70360588-GAGC-G |
MED12 |
c.6165_6167delGCA |
p.Q2076del |
InFrameDeletion |
42/45 |
- |
5-176638711-A-G |
NSD1 |
c.3311A>G |
p.H1104R |
Missense |
5/23 |
- |
3-89391019-T-C |
EPHA3 |
c.1085T>C |
p.I362T |
Missense |
5/17 |
- |
X-123159736-G-T |
STAG2 |
c.91G>T |
p.E31* |
Nonsense |
4/35 |
- |
22-22221654-G-T |
MAPK1 |
c.77C>A |
p.T26N |
Missense |
1/9 |
- |
1-158656285-G-A |
SPTA1 |
c.23C>T |
p.T8I |
Missense |
1/52 |
- |
2-128028923-C-A |
ERCC3 |
c.1934G>T |
p.R645L |
Missense |
12/15 |
- |
13-32911085-G-A |
BRCA2 |
c.2593G>A |
p.E865K |
Missense |
11/27 |
- |
15-93528878-G-A |
CHD2 |
c.3388G>A |
p.G1130R |
Missense |
26/39 |
- |
5-35873670-C-T |
IL7R |
c.626C>T |
p.P209L |
Missense |
5/8 |
- |
4-187518002-G-A |
FAT1 |
c.12692C>T |
p.P4231L |
Missense |
25/27 |
- |
16-1544301-GA-AG |
TELO2 |
c.19_20delGAinsAG |
p.E7R |
Missense |
2/21 |
- |
8-68864748-G-A |
PREX2 |
c.119G>A |
p.G40D |
Missense |
1/40 |
- |
5-176636707-G-A |
NSD1 |
c.1307G>A |
p.G436E |
Missense |
5/23 |
- |
11-108225548-A-G |
ATM |
c.8797A>G |
p.K2933E |
Missense |
61/63 |
- |
16-23649230-G-A |
PALB2 |
c.152C>T |
p.T51I |
Missense |
3/13 |
- |
16-23641779-G-A |
PALB2 |
c.1696C>T |
p.R566C |
Missense |
5/13 |
- |
16-23640578-G-A |
PALB2 |
c.2533C>T |
p.P845S |
Missense |
6/13 |
- |
1-243736269-C-T |
AKT3 |
c.778G>A |
p.D260N |
Missense |
9/14 |
- |
4-106156810-C-T |
TET2 |
c.1711C>T |
p.R571C |
Missense |
3/11 |
- |
2-141459350-T-A |
LRP1B |
c.6367A>T |
p.R2123* |
Nonsense |
40/91 |
- |
2-233198649-C-T |
DIS3L2 |
c.2110C>T |
p.R704C |
Missense |
17/21 |
- |
9-35078250-G-A |
FANCG |
c.398C>T |
p.P133L |
Missense |
4/14 |
- |
2-141128831-C-T |
LRP1B |
c.10792G>A |
p.E3598K |
Missense |
70/91 |
- |
3-89259629-C-T |
EPHA3 |
c.773C>T |
p.S258F |
Missense |
3/17 |
- |
6-93967900-C-T |
EPHA7 |
c.2027G>A |
p.R676K |
Missense |
11/17 |
- |
X-123185040-A-G |
STAG2 |
c.1087A>G |
p.K363E |
Missense |
12/35 |
- |
3-181430799-G-A |
SOX2 |
c.651G>A |
p.M217I |
Missense |
1/1 |
- |
4-106156003-G-C |
TET2 |
c.904G>C |
p.D302H |
Missense |
3/11 |
- |
1-243736331-C-G |
AKT3 |
c.716G>C |
p.R239T |
Missense |
9/14 |
- |
7-41739896-G-A |
INHBA |
c.77C>T |
p.S26F |
Missense |
2/3 |
- |
3-47125800-T-A |
SETD2 |
c.5470A>T |
p.I1824F |
Missense |
12/21 |
- |
12-115114223-C-T |
TBX3 |
c.934G>A |
p.E312K |
Missense |
5/7 |
- |
7-6441589-G-A |
RAC1 |
c.379G>A |
p.E127K |
Missense |
5/6 |
- |
12-46233237-A-G |
ARID2 |
c.1456A>G |
p.I486V |
Missense |
11/21 |
- |
17-37627724-C-T |
CDK12 |
c.1639C>T |
p.Q547* |
Nonsense |
2/14 |
- |
X-53250092-G-A |
KDM5C |
c.157C>T |
p.Q53* |
Nonsense |
2/26 |
- |
1-11316222-T-C |
MTOR |
c.532A>G |
p.S178G |
Missense |
5/58 |
- |
9-135782182-A-T |
TSC1 |
c.1374T>A |
p.D458E |
Missense |
14/23 |
- |
19-11145764-G-A |
SMARCA4 |
c.4126G>A |
p.E1376K |
Missense |
29/35 |
- |
19-11144051-A-T |
SMARCA4 |
c.3632A>T |
p.E1211V |
Missense |
26/35 |
- |
19-11098521-C-T |
SMARCA4 |
c.1039C>T |
p.Q347* |
Nonsense |
6/35 |
- |
19-11130271-C-T |
SMARCA4 |
c.2510C>T |
p.S837F |
Missense |
18/35 |
- |
19-11105534-A-T |
SMARCA4 |
c.1450A>T |
p.K484* |
Nonsense |
9/35 |
- |
9-133760305-G-T |
ABL1 |
c.2628G>T |
p.R876S |
Missense |
11/11 |
- |
19-11105633-A-G |
SMARCA4 |
c.1549A>G |
p.K517E |
Missense |
9/35 |
- |
19-11123674-G-T |
SMARCA4 |
c.2324G>T |
p.G775V |
Missense |
16/35 |
- |
11-102195365-G-T |
BIRC3 |
c.125G>T |
p.G42V |
Missense |
2/9 |
- |
19-11105546-G-T |
SMARCA4 |
c.1462G>T |
p.E488* |
Nonsense |
9/35 |
- |
19-11129646-T-A |
SMARCA4 |
c.2452T>A |
p.W818R |
Missense |
17/35 |
- |
19-11113802-G-A |
SMARCA4 |
c.1910G>A |
p.G637E |
Missense |
12/35 |
- |
11-118343855-G-A |
KMT2A |
c.1981G>A |
p.V661I |
Missense |
3/36 |
- |
1-27106249-A-G |
ARID1A |
c.5860A>G |
p.I1954V |
Missense |
20/20 |
- |
4-55604658-C-T |
KIT |
c.2866C>T |
p.R956W |
Missense |
21/21 |
- |
19-855794-C-T |
ELANE |
c.597C>T |
p.F199= |
Synonymous |
4/5 |
- |
14-36986793-G-A |
NKX2-1 |
c.896C>T |
p.P299L |
Missense |
3/3 |
- |
1-226253448-G-C |
H3-3A |
c.220G>C |
p.E74Q |
Missense |
3/4 |
- |
X-47035902-TC-T |
RBM10 |
c.583delC |
p.L195Sfs*71 |
Frameshift |
7/24 |
- |
15-88423587-C-T |
NTRK3 |
c.2248G>A |
p.E750K |
Missense |
19/20 |
- |
15-38614537-T-TA |
SPRED1 |
c.304dupA |
p.T102Nfs*7 |
Frameshift |
3/7 |
- |
2-29917835-G-A |
ALK |
c.833C>T |
p.P278L |
Missense |
3/29 |
- |
7-55242466-GAATTAAGAGAAGCAACATCTC-CTCT |
EGFR |
c.2236_2257delinsCTCT |
p.E746_P753delinsLS |
MultiAAMissense |
19/28 |
- |
14-45644349-A-G |
FANCM |
c.2392A>G |
p.R798G |
Missense |
14/23 |
- |
16-10031815-C-A |
GRIN2A |
c.1007+1G>T |
- |
IntronicSNV |
- |
3/12 |
2-141773372-G-T |
LRP1B |
c.2083C>A |
p.L695M |
Missense |
13/91 |
- |
9-98242731-A-G |
PTCH1 |
c.886T>C |
p.C296R |
Missense |
6/24 |
- |
16-23646541-A-C |
PALB2 |
c.1326T>G |
p.N442K |
Missense |
4/13 |
- |
16-23646311-G-T |
PALB2 |
c.1556C>A |
p.A519D |
Missense |
4/13 |
- |
2-178098988-C-G |
NFE2L2 |
c.57G>C |
p.L19F |
Missense |
2/5 |
- |
12-56492590-G-C |
ERBB3 |
c.2740G>C |
p.G914R |
Missense |
23/28 |
- |
13-48953755-A-T |
RB1 |
c.1358A>T |
p.Y453F |
Missense |
14/27 |
- |
1-27023042-A-G |
ARID1A |
c.148A>G |
p.M50V |
Missense |
1/20 |
- |
11-108155009-G-A |
ATM |
c.3802G>A |
p.V1268M |
Missense |
26/63 |
- |
16-89877455-G-A |
FANCA |
c.308C>T |
p.S103L |
Missense |
4/43 |
- |
9-80430646-A-C |
GNAQ |
c.362T>G |
p.V121G |
Missense |
3/7 |
- |
22-41564837-G-A |
EP300 |
c.4138G>A |
p.E1380K |
Missense |
25/31 |
- |
12-112910782-G-A |
PTPN11 |
c.791G>A |
p.S264N |
Missense |
7/16 |
- |
5-180051032-G-T |
FLT4 |
c.1451C>A |
p.P484Q |
Missense |
11/30 |
- |
12-49425839-G-A |
KMT2D |
c.12649C>T |
p.Q4217* |
Nonsense |
40/55 |
- |
12-46230734-G-T |
ARID2 |
c.983G>T |
p.R328M |
Missense |
8/21 |
- |
5-11082871-C-G |
CTNND2 |
c.2725G>C |
p.V909L |
Missense |
16/22 |
- |
3-30713601-C-T |
TGFBR2 |
c.926C>T |
p.T309M |
Missense |
4/7 |
- |
6-162622243-C-T |
PRKN |
c.454G>A |
p.G152S |
Missense |
4/12 |
- |
19-10600416-C-A |
KEAP1 |
c.1439G>T |
p.G480V |
Missense |
4/6 |
- |
5-112177043-A-G |
APC |
c.5752A>G |
p.I1918V |
Missense |
16/16 |
- |
16-23649267-G-A |
PALB2 |
c.115C>T |
p.Q39* |
Nonsense |
3/13 |
- |
16-23647206-C-T |
PALB2 |
c.661G>A |
p.V221I |
Missense |
4/13 |
- |
11-108139279-G-T |
ATM |
c.2781G>T |
p.L927F |
Missense |
18/63 |
- |
22-42525781-A-G |
CYP2D6 |
c.311T>C |
p.V104A |
Missense |
2/9 |
- |
13-43148565-CT-C |
TNFSF11 |
c.126delT |
p.A43Pfs*49 |
Frameshift |
1/5 |
- |
18-61324574-T-C |
SERPINB3 |
c.542A>G |
p.Y181C |
Missense |
6/8 |
- |
X-76854937-C-T |
ATRX |
c.5899G>A |
p.E1967K |
Missense |
25/35 |
- |
4-55597532-G-T |
KIT |
c.2180G>T |
p.G727V |
Missense |
15/21 |
- |
12-56481680-C-G |
ERBB3 |
c.715C>G |
p.Q239E |
Missense |
6/28 |
- |
9-135798765-G-A |
TSC1 |
c.478C>T |
p.R160C |
Missense |
6/23 |
- |
12-49416132-C-T |
KMT2D |
c.16343G>A |
p.R5448Q |
Missense |
53/55 |
- |
1-27100175-A-AC |
ARID1A |
c.3977dupC |
p.Q1327Afs*11 |
Frameshift |
16/20 |
- |
17-59885858-C-G |
BRIP1 |
c.888G>C |
p.E296D |
Missense |
7/20 |
- |
16-23641130-G-T |
PALB2 |
c.2345C>A |
p.P782Q |
Missense |
5/13 |
- |
X-76952107-C-T |
ATRX |
c.328G>A |
p.E110K |
Missense |
5/35 |
- |
17-37872647-G-A |
ERBB2 |
c.1607G>A |
p.R536Q |
Missense |
13/27 |
- |
17-38564779-T-A |
TOP2A |
c.1307A>T |
p.K436M |
Missense |
11/35 |
- |
2-29754824-C-T |
ALK |
c.1111G>A |
p.A371T |
Missense |
4/29 |
- |
16-23641376-G-A |
PALB2 |
c.2099C>T |
p.S700L |
Missense |
5/13 |
- |
X-53240802-C-A |
KDM5C |
c.1278G>T |
p.W426C |
Missense |
10/26 |
- |
4-55594200-G-A |
KIT |
c.1903G>A |
p.E635K |
Missense |
13/21 |
- |
3-189584569-C-T |
TP63 |
c.865C>T |
p.P289S |
Missense |
6/14 |
- |
4-55602730-G-T |
KIT |
c.2551G>T |
p.D851Y |
Missense |
18/21 |
- |
19-10610307-G-A |
KEAP1 |
c.403C>T |
p.R135C |
Missense |
2/6 |
- |
2-47639568-GGA-AGC |
MSH2 |
c.661_663delGGAinsAGC |
p.G221S |
Missense |
4/16 |
- |
3-30729955-G-C |
TGFBR2 |
c.1476G>C |
p.L492F |
Missense |
6/7 |
- |
2-173451087-C-T |
PDK1 |
c.1027C>T |
p.R343C |
Missense |
9/11 |
- |
3-89445020-G-A |
EPHA3 |
c.1340G>A |
p.R447Q |
Missense |
6/17 |
- |
2-47639632-A-G |
MSH2 |
c.725A>G |
p.N242S |
Missense |
4/16 |
- |
5-176522701-A-T |
FGFR4 |
c.1798A>T |
p.M600L |
Missense |
13/18 |
- |
12-49426624-A-T |
KMT2D |
c.11864T>A |
p.L3955Q |
Missense |
40/55 |
- |
X-47030585-T-G |
RBM10 |
c.201+1688T>G |
p.D120E |
UnclassifiedSNV |
4/24 |
- |
3-142188222-G-A |
ATR |
c.6509C>T |
p.A2170V |
Missense |
38/47 |
- |
4-187630131-C-T |
FAT1 |
c.851G>A |
p.G284D |
Missense |
2/27 |
- |
9-98220389-C-T |
PTCH1 |
c.3074G>A |
p.R1025H |
Missense |
18/24 |
- |
19-11134277-G-T |
SMARCA4 |
c.2943G>T |
p.K981N |
Missense |
20/35 |
- |
13-32914636-T-G |
BRCA2 |
c.6144T>G |
p.N2048K |
Missense |
11/27 |
- |
19-52716227-C-T |
PPP2R1A |
c.671C>T |
p.A224V |
Missense |
6/15 |
- |
3-52662944-T-C |
PBRM1 |
c.1409A>G |
p.Y470C |
Missense |
13/30 |
- |
19-45867569-T-C |
ERCC2 |
c.739A>G |
p.M247V |
Missense |
9/23 |
- |
9-98231215-C-T |
PTCH1 |
c.2068G>A |
p.V690I |
Missense |
14/24 |
- |
13-32912895-C-G |
BRCA2 |
c.4403C>G |
p.S1468C |
Missense |
11/27 |
- |
5-56111750-C-T |
MAP3K1 |
c.350C>T |
p.A117V |
Missense |
1/20 |
- |
13-32914788-G-C |
BRCA2 |
c.6296G>C |
p.R2099T |
Missense |
11/27 |
- |
1-16202899-C-T |
SPEN |
c.607C>T |
p.P203S |
Missense |
3/15 |
- |
X-47039294-A-T |
RBM10 |
c.917A>T |
p.N306I |
Missense |
10/24 |
- |
2-141607869-G-A |
LRP1B |
c.4741C>T |
p.R1581C |
Missense |
29/91 |
- |
3-47162207-C-T |
SETD2 |
c.3919G>A |
p.D1307N |
Missense |
3/21 |
- |
X-76938775-C-T |
ATRX |
c.1973G>A |
p.R658H |
Missense |
9/35 |
- |
16-23619310-A-T |
PALB2 |
c.3225T>A |
p.S1075R |
Missense |
12/13 |
- |
9-135798863-A-G |
TSC1 |
c.380T>C |
p.V127A |
Missense |
6/23 |
- |
17-63554674-G-A |
AXIN2 |
c.65C>T |
p.P22L |
Missense |
2/11 |
- |
X-123182892-A-T |
STAG2 |
c.857A>T |
p.N286I |
Missense |
10/35 |
- |
2-141359103-C-T |
LRP1B |
c.6905G>A |
p.R2302Q |
Missense |
42/91 |
- |
22-41513599-G-A |
EP300 |
c.503G>A |
p.G168E |
Missense |
2/31 |
- |
4-187509973-C-A |
FAT1 |
c.13540G>T |
p.E4514* |
Nonsense |
27/27 |
- |
16-68845705-C-A |
CDH1 |
c.951C>A |
p.F317L |
Missense |
7/16 |
- |
X-47039333-C-T |
RBM10 |
c.956C>T |
p.A319V |
Missense |
10/24 |
- |
4-187629567-A-C |
FAT1 |
c.1415T>G |
p.F472C |
Missense |
2/27 |
- |
1-156843544-G-C |
NTRK1 |
c.970G>C |
p.E324Q |
Missense |
8/17 |
- |
5-176637034-C-T |
NSD1 |
c.1634C>T |
p.T545M |
Missense |
5/23 |
- |
X-47041654-A-T |
RBM10 |
c.1879A>T |
p.K627* |
Nonsense |
17/24 |
- |
5-112175255-G-A |
APC |
c.3964G>A |
p.E1322K |
Missense |
16/16 |
- |
2-215674197-C-A |
BARD1 |
c.97G>T |
p.A33S |
Missense |
1/11 |
- |
11-32450088-G-T |
WT1 |
c.724C>A |
p.H247N |
Missense |
2/10 |
- |
19-10600361-TC-AT |
KEAP1 |
c.1493_1494delGAinsAT |
p.R498H |
Missense |
4/6 |
- |
11-108213995-G-C |
ATM |
c.8315G>C |
p.G2772A |
Missense |
57/63 |
- |
15-40462838-C-T |
BUB1B |
c.340C>T |
p.R114* |
Nonsense |
4/23 |
- |
16-3808911-C-G |
CREBBP |
c.3313G>C |
p.D1105H |
Missense |
17/31 |
- |
12-92539225-C-A |
BTG1 |
c.87G>T |
p.K29N |
Missense |
1/2 |
- |
5-225584-G-A |
SDHA |
c.363G>A |
p.W121* |
Nonsense |
4/15 |
- |
12-49436527-G-A |
KMT2D |
c.5779C>T |
p.Q1927* |
Nonsense |
27/55 |
- |
9-135780999-C-A |
TSC1 |
c.1966G>T |
p.G656* |
Nonsense |
15/23 |
- |
9-21971147-TG-T |
CDKN2A |
c.210delC |
p.N71Tfs*75 |
Frameshift |
2/3 |
- |
12-4385236-C-G |
CCND2 |
c.261C>G |
p.F87L |
Missense |
2/5 |
- |
7-128851524-G-C |
SMO |
c.1849G>C |
p.A617P |
Missense |
11/12 |
- |
12-49440414-T-A |
KMT2D |
c.4396A>T |
p.K1466* |
Nonsense |
16/55 |
- |
5-131893129-A-G |
RAD50 |
c.113A>G |
p.N38S |
Missense |
1/25 |
- |
16-3779074-C-T |
CREBBP |
c.5974G>A |
p.G1992R |
Missense |
31/31 |
- |
9-98215773-C-T |
PTCH1 |
c.3436G>A |
p.D1146N |
Missense |
20/24 |
- |
16-23637568-G-A |
PALB2 |
c.2737C>T |
p.H913Y |
Missense |
7/13 |
- |
7-128829135-C-T |
SMO |
c.143C>T |
p.A48V |
Missense |
1/12 |
- |
17-70120028-C-G |
SOX9 |
c.1030C>G |
p.P344A |
Missense |
3/3 |
- |
16-23625394-T-A |
PALB2 |
c.3132A>T |
p.Q1044H |
Missense |
11/13 |
- |
3-52437816-C-T |
BAP1 |
c.1345G>A |
p.A449T |
Missense |
13/17 |
- |
1-120468089-C-A |
NOTCH2 |
c.4350G>T |
p.W1450C |
Missense |
25/34 |
- |
2-212615399-C-T |
ERBB4 |
c.587G>A |
p.R196H |
Missense |
5/28 |
- |
2-215645733-G-A |
BARD1 |
c.865C>T |
p.P289S |
Missense |
4/11 |
- |
1-59248123-GGCT-G |
JUN |
c.617_619delAGC |
p.Q206del |
InFrameDeletion |
1/1 |
- |
16-2134293-T-A |
TSC2 |
c.4070T>A |
p.I1357N |
Missense |
34/42 |
- |
7-152357792-C-T |
XRCC2 |
c.115G>A |
p.V39M |
Missense |
2/3 |
- |
16-23646342-C-T |
PALB2 |
c.1525G>A |
p.G509S |
Missense |
4/13 |
- |
16-2110728-C-T |
TSC2 |
c.1033C>T |
p.L345F |
Missense |
11/42 |
- |
22-41573449-C-T |
EP300 |
c.5734C>T |
p.Q1912* |
Nonsense |
31/31 |
- |
16-23632700-C-T |
PALB2 |
c.3096G>A |
p.M1032I |
Missense |
10/13 |
- |
1-45797929-G-A |
MUTYH |
c.758C>T |
p.A253V |
Missense |
10/16 |
- |
6-161781212-G-T |
PRKN |
c.1193C>A |
p.A398D |
Missense |
11/12 |
- |
8-68950505-G-T |
PREX2 |
c.817G>T |
p.V273L |
Missense |
7/40 |
- |
17-29585494-G-T |
NF1 |
c.4306G>T |
p.E1436* |
Nonsense |
32/58 |
- |
7-92462461-G-C |
CDK6 |
c.177C>G |
p.I59M |
Missense |
2/8 |
- |
10-104375077-G-A |
SUFU |
c.1075G>A |
p.E359K |
Missense |
9/12 |
- |
15-88420308-C-A |
NTRK3 |
c.2378G>T |
p.R793L |
Missense |
20/20 |
- |
7-41729978-C-T |
INHBA |
c.551G>A |
p.G184D |
Missense |
3/3 |
- |
2-141201990-G-C |
LRP1B |
c.10203C>G |
p.F3401L |
Missense |
65/91 |
- |
4-143045777-C-A |
INPP4B |
c.1857G>T |
p.M619I |
Missense |
19/26 |
- |
1-226553675-A-T |
PARP1 |
c.2485T>A |
p.Y829N |
Missense |
18/23 |
- |
2-48032846-G-C |
MSH6 |
c.3646G>C |
p.G1216R |
Missense |
7/10 |
- |
12-49427072-G-A |
KMT2D |
c.11416C>T |
p.Q3806* |
Nonsense |
40/55 |
- |
1-27023783-C-T |
ARID1A |
c.889C>T |
p.Q297* |
Nonsense |
1/20 |
- |
3-52441192-T-G |
BAP1 |
c.578A>C |
p.H193P |
Missense |
7/17 |
- |
16-23647236-C-T |
PALB2 |
c.631G>A |
p.E211K |
Missense |
4/13 |
- |
13-32913339-T-A |
BRCA2 |
c.4847T>A |
p.L1616* |
Nonsense |
11/27 |
- |
13-32910896-A-G |
BRCA2 |
c.2404A>G |
p.N802D |
Missense |
11/27 |
- |
13-32911148-A-G |
BRCA2 |
c.2656A>G |
p.N886D |
Missense |
11/27 |
- |
17-41244808-C-G |
BRCA1 |
c.2740G>C |
p.E914Q |
Missense |
10/23 |
- |
17-41244214-C-G |
BRCA1 |
c.3334G>C |
p.E1112Q |
Missense |
10/23 |
- |
14-45633697-C-T |
FANCM |
c.1717C>T |
p.R573* |
Nonsense |
10/23 |
- |
17-41244826-C-G |
BRCA1 |
c.2722G>C |
p.E908Q |
Missense |
10/23 |
- |
20-36031747-A-T |
SRC |
c.1576A>T |
p.T526S |
Missense |
14/14 |
- |
13-32914806-T-C |
BRCA2 |
c.6314T>C |
p.I2105T |
Missense |
11/27 |
- |
13-32914645-T-G |
BRCA2 |
c.6153T>G |
p.N2051K |
Missense |
11/27 |
- |
7-2958174-C-A |
CARD11 |
c.2558G>T |
p.G853V |
Missense |
19/25 |
- |
16-72831854-G-C |
ZFHX3 |
c.4727C>G |
p.A1576G |
Missense |
9/10 |
- |
17-41246379-T-A |
BRCA1 |
c.1169A>T |
p.D390V |
Missense |
10/23 |
- |
3-142177832-C-T |
ATR |
c.7471G>A |
p.V2491I |
Missense |
44/47 |
- |
2-141707966-C-T |
LRP1B |
c.2974G>A |
p.D992N |
Missense |
20/91 |
- |
1-98165090-A-G |
DPYD |
c.497T>C |
p.M166T |
Missense |
6/23 |
- |
2-141115603-C-A |
LRP1B |
c.11340G>T |
p.Q3780H |
Missense |
74/91 |
- |
17-17118562-C-T |
FLCN |
c.1369G>A |
p.D457N |
Missense |
12/14 |
- |
2-25459852-C-G |
DNMT3A |
c.2431G>C |
p.D811H |
Missense |
21/23 |
- |
1-27100204-C-T |
ARID1A |
c.4000C>T |
p.Q1334* |
Nonsense |
16/20 |
- |
16-23647430-C-T |
PALB2 |
c.437G>A |
p.R146K |
Missense |
4/13 |
- |
5-38982093-G-A |
RICTOR |
c.629C>T |
p.T210I |
Missense |
8/38 |
- |
13-32903606-G-T |
BRCA2 |
c.658G>T |
p.V220L |
Missense |
8/27 |
- |
2-25463233-G-C |
DNMT3A |
c.2260C>G |
p.L754V |
Missense |
19/23 |
- |
5-240575-G-A |
SDHA |
c.1535G>A |
p.R512Q |
Missense |
11/15 |
- |
19-1221212-C-G |
STK11 |
c.735C>G |
p.L245= |
Synonymous |
6/10 |
- |
6-116288856-C-A |
FRK |
c.657G>T |
p.L219F |
Missense |
4/8 |
- |
11-44255777-G-A |
EXT2 |
c.1919G>A |
p.G640E |
Missense |
12/14 |
- |
1-46743589-C-G |
RAD54L |
c.1970C>G |
p.S657C |
Missense |
17/18 |
- |
15-42040903-C-T |
MGA |
c.5281C>T |
p.R1761* |
Nonsense |
16/24 |
- |
19-11144125-C-A |
SMARCA4 |
c.3706C>A |
p.Q1236K |
Missense |
26/35 |
- |
16-23646607-C-A |
PALB2 |
c.1260G>T |
p.Q420H |
Missense |
4/13 |
- |
16-68845703-T-C |
CDH1 |
c.949T>C |
p.F317L |
Missense |
7/16 |
- |
11-32417814-C-T |
WT1 |
c.1238G>A |
p.R418K |
Missense |
7/10 |
- |
16-23614950-T-C |
PALB2 |
c.3391A>G |
p.I1131V |
Missense |
13/13 |
- |
X-47422634-C-T |
ARAF |
c.106C>T |
p.R36W |
Missense |
3/16 |
- |
16-23652445-C-G |
PALB2 |
c.34G>C |
p.E12Q |
Missense |
1/13 |
- |
19-10600004-G-GC |
KEAP1 |
c.1571_1571dupG |
p.Y525Lfs*2 |
Frameshift |
5/6 |
- |
11-118307261-C-G |
KMT2A |
c.34C>G |
p.R12G |
Missense |
1/36 |
- |
9-8517962-T-A |
PTPRD |
c.1429A>T |
p.T477S |
Missense |
21/46 |
- |
X-47040801-G-T |
RBM10 |
c.1435+1G>T |
- |
IntronicSNV |
- |
13/23 |
X-47039638-C-T |
RBM10 |
c.1090C>T |
p.Q364* |
Nonsense |
11/24 |
- |
17-8045175-G-T |
PER1 |
c.3548C>A |
p.A1183D |
Missense |
22/23 |
- |
2-42488301-G-A |
EML4 |
c.379G>A |
p.E127K |
Missense |
4/23 |
- |
12-6705221-C-T |
CHD4 |
c.1975G>A |
p.V659M |
Missense |
13/40 |
- |
5-170827852-G-T |
NPM1 |
c.592G>T |
p.D198Y |
Missense |
8/11 |
- |
7-41729603-C-T |
INHBA |
c.926G>A |
p.R309Q |
Missense |
3/3 |
- |
6-169629723-C-A |
THBS2 |
c.2203G>T |
p.G735W |
Missense |
14/22 |
- |
1-120480014-G-A |
NOTCH2 |
c.3413C>T |
p.P1138L |
Missense |
21/34 |
- |
12-46245849-G-C |
ARID2 |
c.3943G>C |
p.E1315Q |
Missense |
15/21 |
- |
8-139278044-C-T |
FAM135B |
c.199G>A |
p.V67M |
Missense |
4/20 |
- |
1-193111138-T-C |
CDC73 |
c.671T>C |
p.I224T |
Missense |
7/17 |
- |
7-66460388-G-A |
SBDS |
c.17C>T |
p.P6L |
Missense |
1/5 |
- |
1-76288153-G-A |
MSH4 |
c.1049G>A |
p.R350Q |
Missense |
7/20 |
- |
1-76365319-G-C |
MSH4 |
c.2547G>C |
p.E849D |
Missense |
19/20 |
- |
5-11082936-G-C |
CTNND2 |
c.2660C>G |
p.A887G |
Missense |
16/22 |
- |
22-29091722-C-T |
CHEK2 |
c.1235G>A |
p.S412N |
Missense |
11/15 |
- |
8-41791504-C-A |
KAT6A |
c.4234G>T |
p.E1412* |
Nonsense |
17/17 |
- |
15-88726665-G-T |
NTRK3 |
c.379C>A |
p.P127T |
Missense |
5/20 |
- |
4-187627830-G-T |
FAT1 |
c.3152C>A |
p.S1051* |
Nonsense |
2/27 |
- |
2-141272254-C-A |
LRP1B |
c.8237G>T |
p.G2746V |
Missense |
51/91 |
- |
7-142649673-C-A |
KEL |
c.1126G>T |
p.A376S |
Missense |
10/19 |
- |
16-2103365-A-G |
TSC2 |
c.248A>G |
p.K83R |
Missense |
4/42 |
- |
7-142640585-G-T |
KEL |
c.1691C>A |
p.P564H |
Missense |
15/19 |
- |
10-84745064-C-G |
NRG3 |
c.1794C>G |
p.I598M |
Missense |
9/9 |
- |
7-41729875-C-A |
INHBA |
c.654G>T |
p.W218C |
Missense |
3/3 |
- |
2-109365532-G-A |
RANBP2 |
c.1220G>A |
p.G407E |
Missense |
9/29 |
- |
15-99482568-G-T |
IGF1R |
c.3436G>T |
p.D1146Y |
Missense |
18/21 |
- |
5-112179728-A-G |
APC |
c.8437A>G |
p.T2813A |
Missense |
16/16 |
- |
13-28609743-C-A |
FLT3 |
c.1486G>T |
p.V496L |
Missense |
12/24 |
- |
17-7577521-TG-T |
TP53 |
c.759delC |
p.I254Sfs*91 |
Frameshift |
7/11 |
- |
9-35075597-C-T |
FANCG |
c.1298G>A |
p.R433Q |
Missense |
10/14 |
- |
16-23634440-C-T |
PALB2 |
c.2846G>A |
p.C949Y |
Missense |
9/13 |
- |
9-139417485-C-A |
NOTCH1 |
c.559G>T |
p.G187W |
Missense |
4/34 |
- |
2-141819745-G-A |
LRP1B |
c.1111C>T |
p.Q371* |
Nonsense |
8/91 |
- |
17-37673794-G-T |
CDK12 |
c.2948G>T |
p.R983L |
Missense |
10/14 |
- |
9-139413937-C-T |
NOTCH1 |
c.823G>A |
p.G275S |
Missense |
5/34 |
- |
7-151945021-C-T |
KMT2C |
c.2498G>A |
p.R833K |
Missense |
14/59 |
- |
3-142218534-G-A |
ATR |
c.5315C>T |
p.T1772M |
Missense |
31/47 |
- |
4-1374719-G-A |
UVSSA |
c.1804G>A |
p.D602N |
Missense |
12/14 |
- |
3-89521616-C-T |
EPHA3 |
c.2693C>T |
p.P898L |
Missense |
16/17 |
- |
X-63410555-C-T |
AMER1 |
c.2612G>A |
p.R871Q |
Missense |
2/2 |
- |
X-47030553-G-A |
RBM10 |
c.328G>A |
p.E110K |
Missense |
4/24 |
- |
16-23641163-C-T |
PALB2 |
c.2312G>A |
p.S771N |
Missense |
5/13 |
- |
19-10461554-C-T |
TYK2 |
c.3520G>A |
p.E1174K |
Missense |
25/25 |
- |
7-142640065-C-T |
KEL |
c.1838G>A |
p.R613H |
Missense |
17/19 |
- |
4-20512726-G-A |
SLIT2 |
c.1024G>A |
p.D342N |
Missense |
11/37 |
- |
4-20255548-G-T |
SLIT2 |
c.110G>T |
p.S37I |
Missense |
1/37 |
- |
12-56361648-G-A |
CDK2 |
c.124G>A |
p.E42K |
Missense |
2/7 |
- |
5-112174304-G-A |
APC |
c.3013G>A |
p.A1005T |
Missense |
16/16 |
- |
4-20535339-G-T |
SLIT2 |
c.1832+1G>T |
- |
IntronicSNV |
- |
18/36 |
1-193181231-G-A |
CDC73 |
c.1066+1G>A |
- |
IntronicSNV |
- |
12/16 |
17-29550586-G-T |
NF1 |
c.1845+1G>T |
- |
IntronicSNV |
- |
16/57 |
X-153995337-G-A |
DKC1 |
c.513+1G>A |
- |
IntronicSNV |
- |
6/14 |
15-91312816-GTGTAAGTT-G |
BLM |
c.2555_2555+7delTGTAAGTT |
- |
SpliceDonorDeletion |
12/22 |
12/21 |
10-115608738-C-A |
DCLRE1A |
c.2125+1G>T |
- |
IntronicSNV |
- |
2/8 |
2-141359013-TCTTA-T |
LRP1B |
c.6989+2_6989+5delTAAG |
- |
IntronicDeletion |
42/91 |
42/90 |
X-47038564-T-C |
RBM10 |
c.724+2T>C |
- |
IntronicSNV |
- |
8/23 |
19-10602662-C-T |
KEAP1 |
c.916G>A |
p.E306K |
Missense |
3/6 |
- |
13-25021149-TCTTACC-T |
PARP4 |
c.3285_3285+5delGGTAAG |
- |
SpliceDonorDeletion |
26/34 |
26/33 |
12-65460420-C-T |
WIF1 |
c.730+1G>A |
- |
IntronicSNV |
- |
6/9 |
16-2135005-AGCCAATCCTGCTGCCCAATGAGGTAGGCGTG-A |
TSC2 |
c.4551_4569+12del31 |
- |
SpliceDonorDeletion |
35/42 |
35/41 |
X-47040801-G-A |
RBM10 |
c.1435+1G>A |
- |
IntronicSNV |
- |
13/23 |
3-133368623-C-A |
TOPBP1 |
c.1253+1G>T |
- |
IntronicSNV |
- |
9/27 |
22-30032840-TGGCCTGGCTCAAAATGGACAAGAA-T |
NF2 |
c.218_240+1del24 |
- |
SpliceDonorDeletion |
2/16 |
2/15 |
17-30320353-G-A |
SUZ12 |
c.1293+1G>A |
- |
IntronicSNV |
- |
11/15 |
17-57970687-G-C |
RPS6KB1 |
c.141+1G>C |
- |
IntronicSNV |
- |
1/14 |
X-47041442-G-T |
RBM10 |
c.1785+1G>T |
- |
IntronicSNV |
- |
16/23 |
X-76855200-C-T |
ATRX |
c.5786+1G>A |
- |
IntronicSNV |
- |
24/34 |
X-70341288-G-C |
MED12 |
c.846+1G>C |
- |
IntronicSNV |
- |
6/44 |
3-52702513-C-T |
PBRM1 |
c.384+1G>A |
- |
IntronicSNV |
- |
4/29 |
2-225371574-C-T |
CUL3 |
c.1029+1G>A |
- |
IntronicSNV |
- |
7/15 |
17-29554302-ACACTGAGGTATG-A |
NF1 |
c.2320_2325+6del12 |
- |
SpliceDonorDeletion |
19/58 |
19/57 |
9-135776974-A-G |
TSC1 |
c.2502+2T>C |
- |
IntronicSNV |
- |
19/22 |
13-48954214-ATTTTAGGTAAATTTTTTACTTTTAGTAAAAAAT-A |
RB1 |
c.1420_1421+31del33 |
- |
SpliceDonorDeletion |
15/27 |
15/26 |
11-94212839-C-T |
MRE11 |
c.402+1G>A |
- |
IntronicSNV |
- |
5/19 |
4-110880578-CGGAAGTACTGTGAAGGTAATGACT-C |
EGF |
c.1066+7_1066+30del24 |
- |
SpliceDonorDeletion |
- |
6/23 |
14-50929382-C-A |
MAP4K5 |
c.936+1G>T |
- |
IntronicSNV |
- |
13/32 |
3-10183644-C-G |
VHL |
c.113C>G |
p.S38C |
Missense |
1/3 |
- |
16-3779514-T-A |
CREBBP |
c.5534A>T |
p.N1845I |
Missense |
31/31 |
- |
9-407021-G-T |
DOCK8 |
c.3482G>T |
p.G1161V |
Missense |
28/48 |
- |
1-120459158-C-A |
NOTCH2 |
c.6187G>T |
p.D2063Y |
Missense |
34/34 |
- |
8-30938661-G-T |
WRN |
c.1118G>T |
p.G373V |
Missense |
9/35 |
- |
7-77885889-A-G |
MAGI2 |
c.1418T>C |
p.I473T |
Missense |
10/22 |
- |
16-23641061-A-T |
PALB2 |
c.2414T>A |
p.V805D |
Missense |
5/13 |
- |
8-37699436-G-A |
ADGRA2 |
c.3580G>A |
p.E1194K |
Missense |
19/19 |
- |
8-139149480-C-A |
FAM135B |
c.3925G>T |
p.V1309L |
Missense |
19/20 |
- |
5-176517475-G-T |
FGFR4 |
c.176G>T |
p.R59L |
Missense |
3/18 |
- |
13-28578228-C-A |
FLT3 |
c.2943G>T |
p.L981F |
Missense |
24/24 |
- |
12-121426800-C-T |
HNF1A |
c.491C>T |
p.T164I |
Missense |
2/10 |
- |
1-65301896-T-C |
JAK1 |
c.3143A>G |
p.Y1048C |
Missense |
23/25 |
- |
3-181430462-A-T |
SOX2 |
c.314A>T |
p.H105L |
Missense |
1/1 |
- |
9-27192496-A-T |
TEK |
c.1499A>T |
p.E500V |
Missense |
11/23 |
- |
1-158615154-C-G |
SPTA1 |
c.4018G>C |
p.A1340P |
Missense |
29/52 |
- |
1-27106807-C-A |
ARID1A |
c.6418C>A |
p.P2140T |
Missense |
20/20 |
- |
2-225422564-C-A |
CUL3 |
c.76G>T |
p.D26Y |
Missense |
2/16 |
- |
8-139163826-A-T |
FAM135B |
c.2892T>A |
p.D964E |
Missense |
13/20 |
- |
11-69457974-GCATCTACACCGACAACTC-G |
CCND1 |
c.379_396del18 |
p.Y127_I132del |
InFrameDeletion |
2/5 |
- |
2-141201898-C-G |
LRP1B |
c.10294+1G>C |
- |
IntronicSNV |
- |
65/90 |
13-48947630-T-A |
RB1 |
c.1215+2T>A |
- |
IntronicSNV |
- |
12/26 |
16-9857697-T-A |
GRIN2A |
c.3704A>T |
p.K1235M |
Missense |
13/13 |
- |
X-70342101-G-C |
MED12 |
c.1153G>C |
p.D385H |
Missense |
8/45 |
- |
3-130873910-C-G |
NEK11 |
c.907C>G |
p.L303V |
Missense |
10/18 |
- |
16-23646335-C-G |
PALB2 |
c.1532G>C |
p.R511T |
Missense |
4/13 |
- |
5-38991087-T-C |
RICTOR |
c.547A>G |
p.M183V |
Missense |
7/38 |
- |
1-179077208-G-C |
ABL2 |
c.3194C>G |
p.T1065S |
Missense |
12/12 |
- |
11-108201002-G-C |
ATM |
c.7369G>C |
p.E2457Q |
Missense |
50/63 |
- |
11-119155906-C-G |
CBL |
c.1571C>G |
p.S524C |
Missense |
11/16 |
- |
1-16475355-G-A |
EPHA2 |
c.341C>T |
p.S114F |
Missense |
3/17 |
- |
8-139163608-C-T |
FAM135B |
c.3110G>A |
p.C1037Y |
Missense |
13/20 |
- |
8-38271713-C-T |
FGFR1 |
c.2143G>A |
p.E715K |
Missense |
16/18 |
- |
5-176518781-C-G |
FGFR4 |
c.699C>G |
p.I233M |
Missense |
6/18 |
- |
13-29008044-A-T |
FLT1 |
c.725T>A |
p.L242* |
Nonsense |
6/30 |
- |
5-180056313-T-A |
FLT4 |
c.931A>T |
p.K311* |
Nonsense |
7/30 |
- |
X-48651646-G-A |
GATA1 |
c.812G>A |
p.R271K |
Missense |
5/6 |
- |
12-57858996-G-A |
GLI1 |
c.492G>A |
p.M164I |
Missense |
5/12 |
- |
7-42006199-C-T |
GLI3 |
c.2472G>A |
p.M824I |
Missense |
15/15 |
- |
7-86469220-G-C |
GRM3 |
c.2390G>C |
p.R797T |
Missense |
4/6 |
- |
11-118352586-G-T |
KMT2A |
c.3791G>T |
p.R1264L |
Missense |
7/36 |
- |
12-49418652-G-C |
KMT2D |
c.15862C>G |
p.L5288V |
Missense |
50/55 |
- |
2-141215164-A-T |
LRP1B |
c.9682T>A |
p.Y3228N |
Missense |
61/91 |
- |
2-141004663-A-C |
LRP1B |
c.13316T>G |
p.I4439S |
Missense |
87/91 |
- |
17-29664894-C-G |
NF1 |
c.6700C>G |
p.Q2234E |
Missense |
44/58 |
- |
1-120478115-G-C |
NOTCH2 |
c.3635C>G |
p.S1212C |
Missense |
22/34 |
- |
16-23635385-C-G |
PALB2 |
c.2779G>C |
p.D927H |
Missense |
8/13 |
- |
19-18278007-G-A |
PIK3R2 |
c.1627G>A |
p.E543K |
Missense |
13/16 |
- |
19-50918095-C-G |
POLD1 |
c.2412C>G |
p.I804M |
Missense |
20/27 |
- |
10-43597964-G-T |
RET |
c.512G>T |
p.R171M |
Missense |
3/20 |
- |
8-92988149-C-G |
RUNX1T1 |
c.1221G>C |
p.E407D |
Missense |
9/11 |
- |
4-20521012-T-C |
SLIT2 |
c.1066T>C |
p.Y356H |
Missense |
12/37 |
- |
3-181430758-G-T |
SOX2 |
c.610G>T |
p.A204S |
Missense |
1/1 |
- |
9-27203108-G-A |
TEK |
c.2200G>A |
p.E734K |
Missense |
13/23 |
- |
9-27203106-C-A |
TEK |
c.2198C>A |
p.P733Q |
Missense |
13/23 |
- |
11-118365431-G-T |
KMT2A |
c.5312G>T |
p.W1771L |
Missense |
18/36 |
- |
1-16460408-C-T |
EPHA2 |
c.1685G>A |
p.R562K |
Missense |
9/17 |
- |
10-43623566-C-G |
RET |
c.3194C>G |
p.S1065* |
Nonsense |
20/20 |
- |
7-55231465-G-T |
EGFR |
c.1671G>T |
p.Q557H |
Missense |
14/28 |
- |
1-11298512-T-A |
MTOR |
c.1949A>T |
p.Q650L |
Missense |
12/58 |
- |
7-42005915-A-G |
GLI3 |
c.2756T>C |
p.L919P |
Missense |
15/15 |
- |
7-41730089-A-T |
INHBA |
c.440T>A |
p.L147Q |
Missense |
3/3 |
- |
19-19256787-G-A |
MEF2B |
c.926C>T |
p.A309V |
Missense |
9/9 |
- |
9-36923357-A-G |
PAX5 |
c.905T>C |
p.V302A |
Missense |
7/10 |
- |
3-47125469-G-A |
SETD2 |
c.5801C>T |
p.P1934L |
Missense |
12/21 |
- |
1-158581135-C-A |
SPTA1 |
c.7179G>T |
p.Q2393H |
Missense |
52/52 |
- |
3-41266483-G-C |
CTNNB1 |
c.280G>C |
p.V94L |
Missense |
4/15 |
- |
3-134670574-T-A |
EPHB1 |
c.485T>A |
p.V162D |
Missense |
3/16 |
- |
15-91295155-C-T |
BLM |
c.938C>T |
p.S313F |
Missense |
4/22 |
- |
16-23649258-C-G |
PALB2 |
c.124G>C |
p.E42Q |
Missense |
3/13 |
- |
5-131924570-A-T |
RAD50 |
c.1243A>T |
p.M415L |
Missense |
8/25 |
- |
16-68857456-G-T |
CDH1 |
c.2091G>T |
p.K697N |
Missense |
13/16 |
- |
14-95590996-C-A |
DICER1 |
c.913G>T |
p.D305Y |
Missense |
8/27 |
- |
12-56487641-G-A |
ERBB3 |
c.1574G>A |
p.R525Q |
Missense |
13/28 |
- |
12-49420901-G-C |
KMT2D |
c.14848C>G |
p.L4950V |
Missense |
49/55 |
- |
2-141607817-G-T |
LRP1B |
c.4793C>A |
p.T1598K |
Missense |
29/91 |
- |
4-110890251-G-A |
EGF |
c.1700G>A |
p.R567H |
Missense |
11/24 |
- |
X-70595083-C-A |
TAF1 |
c.479C>A |
p.P140H |
Missense |
4/38 |
- |
8-139278053-C-A |
FAM135B |
c.190G>T |
p.D64Y |
Missense |
4/20 |
- |
4-187557992-T-A |
FAT1 |
c.3719A>T |
p.D1240V |
Missense |
5/27 |
- |
9-137313610-C-G |
RXRA |
c.869C>G |
p.S290* |
Nonsense |
6/10 |
- |
3-47098571-C-T |
SETD2 |
c.6703G>A |
p.V2235I |
Missense |
15/21 |
- |
4-55146576-G-T |
PDGFRA |
c.2250G>T |
p.E750D |
Missense |
16/23 |
- |
2-212543803-G-T |
ERBB4 |
c.1596C>A |
p.C532* |
Nonsense |
13/28 |
- |
11-22646285-C-G |
FANCF |
c.1072G>C |
p.A358P |
Missense |
1/1 |
- |
3-119642260-T-C |
GSK3B |
c.437A>G |
p.Y146C |
Missense |
4/11 |
- |
3-138433450-C-T |
PIK3CB |
c.1162G>A |
p.D388N |
Missense |
9/24 |
- |
14-95562981-TCTC-T |
DICER1 |
c.4273_4275delGAG |
p.E1425del |
InFrameDeletion |
23/27 |
- |
1-11259340-G-A |
MTOR |
c.4228C>T |
p.P1410S |
Missense |
28/58 |
- |
5-180048693-G-T |
FLT4 |
c.1869C>A |
p.S623R |
Missense |
13/30 |
- |
3-38180282-C-A |
MYD88 |
c.130C>A |
p.R31S |
Missense |
1/5 |
- |
2-178095740-G-C |
NFE2L2 |
c.1591C>G |
p.H531D |
Missense |
5/5 |
- |
6-394947-C-A |
IRF4 |
c.343C>A |
p.Q115K |
Missense |
3/9 |
- |
14-81534626-C-A |
TSHR |
c.271C>A |
p.Q91K |
Missense |
3/10 |
- |
20-52192785-C-G |
ZNF217 |
c.2518G>C |
p.E840Q |
Missense |
4/6 |
- |
2-141747224-T-C |
LRP1B |
c.2647A>G |
p.N883D |
Missense |
17/91 |
- |
16-3788626-C-A |
CREBBP |
c.4328G>T |
p.R1443L |
Missense |
26/31 |
- |
5-180049806-C-T |
FLT4 |
c.1582G>A |
p.V528M |
Missense |
12/30 |
- |
18-19751428-G-C |
GATA6 |
c.323G>C |
p.S108T |
Missense |
2/7 |
- |
12-57552421-G-C |
LRP1 |
c.1798G>C |
p.G600R |
Missense |
11/89 |
- |
2-141081546-C-A |
LRP1B |
c.12430G>T |
p.G4144C |
Missense |
81/91 |
- |
1-43783709-C-A |
TIE1 |
c.2888C>A |
p.A963E |
Missense |
17/23 |
- |
11-108141854-G-A |
ATM |
c.2902G>A |
p.E968K |
Missense |
19/63 |
- |
7-55231447-G-C |
EGFR |
c.1653G>C |
p.E551D |
Missense |
14/28 |
- |
7-78130922-T-C |
MAGI2 |
c.937A>G |
p.T313A |
Missense |
5/22 |
- |
21-36259273-C-A |
RUNX1 |
c.218G>T |
p.S73I |
Missense |
4/9 |
- |
9-5126781-T-C |
JAK2 |
c.3389T>C |
p.M1130T |
Missense |
25/25 |
- |
1-150551958-C-T |
MCL1 |
c.49G>A |
p.G17R |
Missense |
1/3 |
- |
1-16259987-G-C |
SPEN |
c.7252G>C |
p.E2418Q |
Missense |
11/15 |
- |
16-23635399-A-G |
PALB2 |
c.2765T>C |
p.I922T |
Missense |
8/13 |
- |
18-19757040-G-A |
GATA6 |
c.1260G>A |
p.M420I |
Missense |
3/7 |
- |
12-57577255-C-G |
LRP1 |
c.5756C>G |
p.S1919C |
Missense |
35/89 |
- |
12-57577234-C-G |
LRP1 |
c.5735C>G |
p.S1912* |
Nonsense |
35/89 |
- |
12-69968308-A-T |
FRS2 |
c.1100A>T |
p.D367V |
Missense |
9/9 |
- |
5-156665188-A-G |
ITK |
c.838A>G |
p.K280E |
Missense |
9/17 |
- |
7-55249013-A-ACCCCCC |
EGFR |
c.2311_2312insCCCCCC |
p.N771delinsTPH |
MultiAAMissense |
20/28 |
- |
12-49444744-G-A |
KMT2D |
c.2722C>T |
p.L908= |
Synonymous |
11/55 |
- |
9-27197504-C-T |
TEK |
c.1816C>T |
p.H606Y |
Missense |
12/23 |
- |
2-212530104-G-C |
ERBB4 |
c.1815C>G |
p.F605L |
Missense |
15/28 |
- |
16-56868064-C-G |
NUP93 |
c.1562C>G |
p.P521R |
Missense |
14/22 |
- |
9-2076289-A-G |
SMARCA2 |
c.1996A>G |
p.S666G |
Missense |
13/34 |
- |
3-37081704-C-G |
MLH1 |
c.1586C>G |
p.S529C |
Missense |
14/19 |
- |
5-131927058-C-T |
RAD50 |
c.1595C>T |
p.T532I |
Missense |
10/25 |
- |
12-12870996-G-T |
CDKN1B |
c.223G>T |
p.E75* |
Nonsense |
1/3 |
- |
2-25469955-G-C |
DNMT3A |
c.1087C>G |
p.P363A |
Missense |
9/23 |
- |
10-43606839-A-T |
RET |
c.1448A>T |
p.Y483F |
Missense |
7/20 |
- |
1-162740185-A-G |
DDR2 |
c.1387A>G |
p.S463G |
Missense |
12/18 |
- |
13-28903793-A-T |
FLT1 |
c.2666T>A |
p.L889Q |
Missense |
19/30 |
- |
12-57596983-G-C |
LRP1 |
c.10731G>C |
p.E3577D |
Missense |
69/89 |
- |
4-20570534-G-C |
SLIT2 |
c.2995G>C |
p.V999L |
Missense |
29/37 |
- |
11-108204648-A-G |
ATM |
c.7963A>G |
p.K2655E |
Missense |
54/63 |
- |
5-233598-A-G |
SDHA |
c.902A>G |
p.Y301C |
Missense |
8/15 |
- |
4-55156574-C-A |
PDGFRA |
c.2975C>A |
p.T992N |
Missense |
22/23 |
- |
16-2098729-T-A |
TSC2 |
c.113T>A |
p.F38Y |
Missense |
2/42 |
- |
16-89809255-C-T |
FANCA |
c.3718G>A |
p.E1240K |
Missense |
37/43 |
- |
9-5090457-C-A |
JAK2 |
c.2773C>A |
p.L925I |
Missense |
21/25 |
- |
16-23640589-G-A |
PALB2 |
c.2522C>T |
p.T841I |
Missense |
6/13 |
- |
2-60689249-A-T |
BCL11A |
c.798T>A |
p.F266L |
Missense |
4/4 |
- |
4-187549770-A-C |
FAT1 |
c.4471T>G |
p.Y1491D |
Missense |
8/27 |
- |
10-96612594-G-T |
CYP2C19 |
c.1396G>T |
p.D466Y |
Missense |
9/9 |
- |
12-21626571-C-T |
RECQL |
c.1361G>A |
p.R454H |
Missense |
12/15 |
- |
17-57119180-G-A |
TRIM37 |
c.1747C>T |
p.P583S |
Missense |
17/24 |
- |
4-1343490-A-G |
UVSSA |
c.277A>G |
p.T93A |
Missense |
3/14 |
- |
19-44050108-C-T |
XRCC1 |
c.1483G>A |
p.V495M |
Missense |
14/17 |
- |
1-85733312-A-C |
BCL10 |
c.700T>G |
p.*234Gext*6 |
Missense |
3/3 |
- |
3-105470341-C-A |
CBLB |
c.688G>T |
p.V230F |
Missense |
5/19 |
- |
3-41278175-G-A |
CTNNB1 |
c.2051G>A |
p.R684K |
Missense |
13/15 |
- |
16-72992645-T-G |
ZFHX3 |
c.1400A>C |
p.E467A |
Missense |
2/10 |
- |
16-23646693-C-G |
PALB2 |
c.1174G>C |
p.E392Q |
Missense |
4/13 |
- |
19-44047589-C-A |
XRCC1 |
c.1857G>T |
p.Q619H |
Missense |
17/17 |
- |
16-23641545-C-G |
PALB2 |
c.1930G>C |
p.G644R |
Missense |
5/13 |
- |
17-29654589-G-T |
NF1 |
c.5341G>T |
p.D1781Y |
Missense |
38/58 |
- |
13-28896483-G-C |
FLT1 |
c.2967C>G |
p.F989L |
Missense |
22/30 |
- |
6-135521460-G-T |
MYB |
c.1857G>T |
p.L619= |
Synonymous |
13/16 |
- |
1-115258771-T-A |
NRAS |
c.11A>T |
p.Y4F |
Missense |
2/7 |
- |
2-223085013-T-C |
PAX3 |
c.1019A>G |
p.H340R |
Missense |
7/9 |
- |
2-239159220-C-T |
PER2 |
c.3439G>A |
p.V1147I |
Missense |
21/23 |
- |
9-98231270-G-C |
PTCH1 |
c.2013C>G |
p.H671Q |
Missense |
14/24 |
- |
17-70120511-C-G |
SOX9 |
c.1513C>G |
p.Q505E |
Missense |
3/3 |
- |
16-23649410-T-C |
PALB2 |
c.89A>G |
p.K30R |
Missense |
2/13 |
- |
10-98064322-T-C |
DNTT |
c.68T>C |
p.M23T |
Missense |
1/11 |
- |
14-62187147-C-T |
HIF1A |
c.83C>T |
p.S28F |
Missense |
2/15 |
- |
4-178256920-G-C |
NEIL3 |
c.357G>C |
p.L119F |
Missense |
3/10 |
- |
11-85723393-A-C |
PICALM |
c.589T>G |
p.F197V |
Missense |
6/20 |
- |
3-48455369-C-A |
PLXNB1 |
c.4321G>T |
p.V1441L |
Missense |
22/38 |
- |
3-121206455-C-A |
POLQ |
c.5323G>T |
p.G1775C |
Missense |
16/30 |
- |
8-69021748-G-T |
PREX2 |
c.3036G>T |
p.R1012S |
Missense |
25/40 |
- |
12-21636506-C-A |
RECQL |
c.504G>T |
p.E168D |
Missense |
6/15 |
- |
17-78318983-G-T |
RNF213 |
c.6848G>T |
p.G2283V |
Missense |
29/68 |
- |
18-61326686-C-A |
SERPINB3 |
c.298G>T |
p.E100* |
Nonsense |
4/8 |
- |
3-47161841-C-T |
SETD2 |
c.4285G>A |
p.V1429M |
Missense |
3/21 |
- |
6-146256427-T-A |
SHPRH |
c.2720A>T |
p.D907V |
Missense |
12/30 |
- |
1-158590061-C-T |
SPTA1 |
c.6316G>A |
p.D2106N |
Missense |
44/52 |
- |
20-36012789-G-T |
SRC |
c.233G>T |
p.R78M |
Missense |
4/14 |
- |
3-176752032-T-A |
TBL1XR1 |
c.1204A>T |
p.T402S |
Missense |
13/16 |
- |
14-90432534-G-A |
TDP1 |
c.603G>A |
p.Q201= |
Synonymous |
4/17 |
- |
3-10183715-G-T |
VHL |
c.184G>T |
p.V62L |
Missense |
1/3 |
- |
2-61719795-C-A |
XPO1 |
c.1473G>T |
p.W491C |
Missense |
14/25 |
- |
2-47612314-A-G |
EPCAM |
c.868A>G |
p.R290G |
Missense |
8/9 |
- |
19-50902309-C-T |
POLD1 |
c.201C>T |
p.D67= |
Synonymous |
2/27 |
- |
19-50905291-G-A |
POLD1 |
c.499G>A |
p.E167K |
Missense |
5/27 |
- |
22-29130579-C-G |
CHEK2 |
c.131G>C |
p.S44T |
Missense |
2/15 |
- |
19-10602602-G-A |
KEAP1 |
c.976C>T |
p.R326C |
Missense |
3/6 |
- |
5-80063866-G-A |
MSH3 |
c.2011G>A |
p.V671I |
Missense |
14/24 |
- |
X-47044716-A-T |
RBM10 |
c.2116A>T |
p.R706* |
Nonsense |
19/24 |
- |
17-12032464-GG-TA |
MAP2K4 |
c.900_901delinsTA |
p.L300_A301delinsFT |
MultiAAMissense |
9/11 |
- |
4-143352337-C-A |
INPP4B |
c.76G>T |
p.D26Y |
Missense |
4/26 |
- |
X-47044889-G-T |
RBM10 |
c.2215G>T |
p.E739* |
Nonsense |
20/24 |
- |
16-23647368-C-T |
PALB2 |
c.499G>A |
p.D167N |
Missense |
4/13 |
- |
1-27057688-G-T |
ARID1A |
c.1396G>T |
p.G466C |
Missense |
3/20 |
- |
X-152815159-G-T |
ATP2B3 |
c.1543G>T |
p.A515S |
Missense |
9/20 |
- |
19-4409044-C-T |
CHAF1A |
c.248C>T |
p.S83F |
Missense |
3/15 |
- |
5-10988246-G-T |
CTNND2 |
c.3320C>A |
p.T1107N |
Missense |
20/22 |
- |
5-11565087-C-A |
CTNND2 |
c.256G>T |
p.G86* |
Nonsense |
3/22 |
- |
3-142274845-C-A |
ATR |
c.2215G>T |
p.D739Y |
Missense |
10/47 |
- |
X-37027291-C-A |
FAM47C |
c.808C>A |
p.L270I |
Missense |
1/1 |
- |
10-123276902-C-A |
FGFR2 |
c.1015G>T |
p.E339* |
Nonsense |
8/18 |
- |
1-155205080-G-A |
GBA |
c.1411C>T |
p.Q471* |
Nonsense |
10/11 |
- |
16-9858201-C-A |
GRIN2A |
c.3200G>T |
p.R1067L |
Missense |
13/13 |
- |
2-187487140-A-T |
ITGAV |
c.391A>T |
p.K131* |
Nonsense |
3/30 |
- |
X-53223743-G-T |
KDM5C |
c.3616C>A |
p.Q1206K |
Missense |
23/26 |
- |
2-141607744-C-A |
LRP1B |
c.4866G>T |
p.W1622C |
Missense |
29/91 |
- |
1-76349448-G-T |
MSH4 |
c.2049G>T |
p.M683I |
Missense |
15/20 |
- |
6-135516931-A-G |
MYB |
c.994A>G |
p.I332V |
Missense |
9/16 |
- |
5-80040413-C-T |
MSH3 |
c.1742C>T |
p.T581I |
Missense |
12/24 |
- |
16-23641722-C-T |
PALB2 |
c.1753G>A |
p.D585N |
Missense |
5/13 |
- |
1-243668594-G-T |
AKT3 |
c.1397C>A |
p.P466Q |
Missense |
14/14 |
- |
1-27105859-G-T |
ARID1A |
c.5470G>T |
p.V1824L |
Missense |
20/20 |
- |
1-116943540-G-T |
ATP1A1 |
c.2630G>T |
p.G877V |
Missense |
19/23 |
- |
X-76939462-G-T |
ATRX |
c.1286C>A |
p.T429N |
Missense |
9/35 |
- |
1-162729646-G-T |
DDR2 |
c.732G>T |
p.Q244H |
Missense |
8/18 |
- |
3-10136932-C-T |
FANCD2 |
c.4012C>T |
p.L1338F |
Missense |
41/44 |
- |
7-81359082-C-A |
HGF |
c.879G>T |
p.M293I |
Missense |
8/18 |
- |
5-35874551-G-T |
IL7R |
c.707G>T |
p.G236V |
Missense |
6/8 |
- |
4-55964334-A-G |
KDR |
c.2479T>C |
p.W827R |
Missense |
17/30 |
- |
7-151900059-C-T |
KMT2C |
c.4052G>A |
p.R1351K |
Missense |
26/59 |
- |
6-32188298-C-T |
NOTCH4 |
c.1043G>A |
p.G348D |
Missense |
6/30 |
- |
4-55127446-C-A |
PDGFRA |
c.234C>A |
p.S78R |
Missense |
3/23 |
- |
8-68984790-C-A |
PREX2 |
c.1554C>A |
p.D518E |
Missense |
14/40 |
- |
8-68989697-G-T |
PREX2 |
c.1635G>T |
p.M545I |
Missense |
15/40 |
- |
9-98238347-G-C |
PTCH1 |
c.1697C>G |
p.P566R |
Missense |
12/24 |
- |
22-22221708-C-A |
MAPK1 |
c.23G>T |
p.G8V |
Missense |
1/9 |
- |
X-70510493-G-T |
NONO |
c.6G>T |
p.Q2H |
Missense |
3/12 |
- |
3-121203987-T-C |
POLQ |
c.5674A>G |
p.I1892V |
Missense |
17/30 |
- |
2-55792038-C-A |
PPP4R3B |
c.2075G>T |
p.S692I |
Missense |
14/17 |
- |
5-23522906-C-A |
PRDM9 |
c.794C>A |
p.S265Y |
Missense |
8/11 |
- |
11-108122584-C-T |
ATM |
c.1628C>T |
p.T543I |
Missense |
11/63 |
- |
5-112177947-C-T |
APC |
c.6656C>T |
p.A2219V |
Missense |
16/16 |
- |
11-85988077-A-G |
EED |
c.1022A>G |
p.D341G |
Missense |
10/12 |
- |
8-139165221-C-G |
FAM135B |
c.1497G>C |
p.Q499H |
Missense |
13/20 |
- |
7-75172208-G-C |
HIP1 |
c.2852C>G |
p.A951G |
Missense |
28/31 |
- |
4-87655550-T-TTTG |
PTPN13 |
c.1953_1954insTTG |
p.T651_V652insL |
InFrameInsertion |
13/48 |
- |
X-48896827-CC-GA |
TFE3 |
c.338_339delGGinsTC |
p.R113I |
Missense |
3/10 |
- |
2-215645880-C-G |
BARD1 |
c.718G>C |
p.V240L |
Missense |
4/11 |
- |
2-215645880-C-A |
BARD1 |
c.718G>T |
p.V240L |
Missense |
4/11 |
- |
4-178274643-G-T |
NEIL3 |
c.1221G>T |
p.K407N |
Missense |
8/10 |
- |
11-102207667-G-C |
BIRC3 |
c.1649G>C |
p.R550T |
Missense |
9/9 |
- |
13-73355086-A-G |
DIS3 |
c.284T>C |
p.L95P |
Missense |
2/21 |
- |
2-30143196-C-A |
ALK |
c.330G>T |
p.W110C |
Missense |
1/29 |
- |
4-55972001-G-T |
KDR |
c.1643C>A |
p.T548N |
Missense |
12/30 |
- |
X-47044743-A-T |
RBM10 |
c.2143A>T |
p.K715* |
Nonsense |
19/24 |
- |
X-96139694-G-A |
RPA4 |
c.385G>A |
p.G129S |
Missense |
1/1 |
- |
1-16256919-C-T |
SPEN |
c.4184C>T |
p.A1395V |
Missense |
11/15 |
- |
12-115112459-C-A |
TBX3 |
c.1221G>T |
p.R407= |
Synonymous |
6/7 |
- |
14-90499554-T-A |
TDP1 |
c.1749T>A |
p.S583R |
Missense |
16/17 |
- |
5-1294228-T-G |
TERT |
c.773A>C |
p.H258P |
Missense |
2/16 |
- |
4-55565909-A-G |
KIT |
c.733A>G |
p.T245A |
Missense |
4/21 |
- |
6-93964474-A-G |
EPHA7 |
c.2423T>C |
p.I808T |
Missense |
14/17 |
- |
1-32741560-A-T |
LCK |
c.527A>T |
p.E176V |
Missense |
7/13 |
- |
4-178274830-G-C |
NEIL3 |
c.1408G>C |
p.A470P |
Missense |
8/10 |
- |
1-76349438-G-T |
MSH4 |
c.2039G>T |
p.G680V |
Missense |
15/20 |
- |
17-29676146-C-G |
NF1 |
c.7198C>G |
p.H2400D |
Missense |
49/58 |
- |
1-158651413-C-A |
SPTA1 |
c.435G>T |
p.E145D |
Missense |
4/52 |
- |
17-38555158-T-C |
TOP2A |
c.3320A>G |
p.D1107G |
Missense |
26/35 |
- |
1-32742086-G-T |
LCK |
c.780G>T |
p.W260C |
Missense |
8/13 |
- |
1-158607971-C-G |
SPTA1 |
c.5041G>C |
p.V1681L |
Missense |
36/52 |
- |
2-128030487-T-A |
ERCC3 |
c.1781A>T |
p.Q594L |
Missense |
11/15 |
- |
2-141473597-T-C |
LRP1B |
c.5968A>G |
p.I1990V |
Missense |
37/91 |
- |
1-11301728-C-T |
MTOR |
c.1423G>A |
p.A475T |
Missense |
10/58 |
- |
5-131915116-A-T |
RAD50 |
c.473A>T |
p.H158L |
Missense |
4/25 |
- |
21-44513322-G-A |
U2AF1 |
c.613C>T |
p.R205W |
Missense |
8/8 |
- |
5-82500667-C-G |
XRCC4 |
c.672C>G |
p.D224E |
Missense |
6/8 |
- |
19-7688747-CGCAGCTCCAGGT-AGCAGGG |
XAB2 |
c.977_989delinsCCCTGCT |
p.D326_R330delinsALL |
MultiAAMissense |
8/19 |
- |
6-32166207-G-A |
NOTCH4 |
c.4747C>T |
p.R1583C |
Missense |
26/30 |
- |
14-20923808-C-G |
APEX1 |
c.4C>G |
p.P2A |
Missense |
2/5 |
- |
11-108173733-C-G |
ATM |
c.5473C>G |
p.Q1825E |
Missense |
36/63 |
- |
8-109229637-T-C |
EIF3E |
c.775A>G |
p.T259A |
Missense |
8/13 |
- |
8-139165274-G-C |
FAM135B |
c.1444C>G |
p.P482A |
Missense |
13/20 |
- |
X-37028885-T-A |
FAM47C |
c.2402T>A |
p.L801Q |
Missense |
1/1 |
- |
14-45636238-G-C |
FANCM |
c.1874G>C |
p.S625T |
Missense |
11/23 |
- |
3-138664706-G-C |
FOXL2 |
c.859C>G |
p.P287A |
Missense |
1/1 |
- |
10-84738732-G-A |
NRG3 |
c.1439G>A |
p.G480E |
Missense |
8/9 |
- |
16-23647491-C-G |
PALB2 |
c.376G>C |
p.E126Q |
Missense |
4/13 |
- |
13-67802561-C-G |
PCDH9 |
c.12G>C |
p.R4S |
Missense |
2/5 |
- |
15-89876469-C-A |
POLG |
c.517G>T |
p.E173* |
Nonsense |
2/23 |
- |
12-111856220-G-T |
SH2B3 |
c.271G>T |
p.D91Y |
Missense |
2/8 |
- |
7-152008996-A-T |
KMT2C |
c.626T>A |
p.V209E |
Missense |
5/59 |
- |
16-89846317-C-T |
FANCA |
c.1675G>A |
p.E559K |
Missense |
18/43 |
- |
16-23641789-C-T |
PALB2 |
c.1686G>A |
p.G562= |
Synonymous |
5/13 |
- |
2-169851960-C-A |
ABCB11 |
c.510G>T |
p.Q170H |
Missense |
7/28 |
- |
17-59871069-T-A |
BRIP1 |
c.1362A>T |
p.E454D |
Missense |
10/20 |
- |
X-100630272-T-C |
BTK |
c.1A>G |
p.M1? |
Missense |
2/19 |
- |
10-64968473-T-A |
JMJD1C |
c.2956A>T |
p.T986S |
Missense |
10/26 |
- |
2-141598646-C-A |
LRP1B |
c.4955G>T |
p.R1652I |
Missense |
30/91 |
- |
19-15308384-G-A |
NOTCH3 |
c.124C>T |
p.P42S |
Missense |
2/33 |
- |
12-133225532-C-A |
POLE |
c.4132G>T |
p.G1378C |
Missense |
32/49 |
- |
18-51820622-A-G |
POLI |
c.2008A>G |
p.R670G |
Missense |
10/10 |
- |
7-95813730-C-A |
SLC25A13 |
c.1036G>T |
p.V346L |
Missense |
11/18 |
- |
14-32563279-A-G |
ARHGAP5 |
c.3404A>G |
p.N1135S |
Missense |
2/7 |
- |
X-76940459-C-T |
ATRX |
c.634G>A |
p.D212N |
Missense |
8/35 |
- |
16-11001813-T-C |
CIITA |
c.2464T>C |
p.W822R |
Missense |
11/20 |
- |
4-84384670-C-G |
ABRAXAS1 |
c.773G>C |
p.R258T |
Missense |
8/9 |
- |
14-45658188-C-A |
FANCM |
c.4963C>A |
p.Q1655K |
Missense |
20/23 |
- |
7-95761142-G-A |
SLC25A13 |
c.1504C>T |
p.P502S |
Missense |
15/18 |
- |
1-158596643-A-G |
SPTA1 |
c.5819T>C |
p.V1940A |
Missense |
41/52 |
- |
12-115118776-C-A |
TBX3 |
c.565G>T |
p.D189Y |
Missense |
2/7 |
- |
11-61076455-C-A |
DDB1 |
c.2661G>T |
p.T887= |
Synonymous |
21/27 |
- |
15-99500456-C-T |
IGF1R |
c.3889C>T |
p.P1297S |
Missense |
21/21 |
- |
2-141597597-A-C |
LRP1B |
c.5172T>G |
p.N1724K |
Missense |
31/91 |
- |
17-29528490-G-C |
NF1 |
c.1247G>C |
p.R416P |
Missense |
11/58 |
- |
15-99451961-G-T |
IGF1R |
c.1295G>T |
p.W432L |
Missense |
6/21 |
- |
5-23524494-G-T |
PRDM9 |
c.1002G>T |
p.Q334H |
Missense |
10/11 |
- |
X-47041711-A-T |
RBM10 |
c.1936A>T |
p.K646* |
Nonsense |
17/24 |
- |
14-99640606-C-A |
BCL11B |
c.2567G>T |
p.C856F |
Missense |
4/4 |
- |
7-148481136-T-G |
CUL1 |
c.1265T>G |
p.L422R |
Missense |
11/22 |
- |
11-77047325-C-T |
PAK1 |
c.1219G>A |
p.D407N |
Missense |
13/15 |
- |
X-47039327-T-C |
RBM10 |
c.950T>C |
p.L317P |
Missense |
10/24 |
- |
4-39322960-G-A |
RFC1 |
c.755C>T |
p.S252L |
Missense |
8/25 |
- |
17-41245417-TAGTAAA-T |
BRCA1 |
c.2125_2130delTTTACT |
p.F709_T710del |
InFrameDeletion |
10/23 |
- |
2-29551335-C-A |
ALK |
c.1295G>T |
p.G432V |
Missense |
6/29 |
- |
5-180043414-G-T |
FLT4 |
c.3172C>A |
p.L1058I |
Missense |
23/30 |
- |
10-43607571-C-A |
RET |
c.1547C>A |
p.P516H |
Missense |
8/20 |
- |
1-16255142-G-T |
SPEN |
c.2407G>T |
p.E803* |
Nonsense |
11/15 |
- |
X-123184155-A-T |
STAG2 |
c.1013A>T |
p.D338V |
Missense |
11/35 |
- |
10-104377105-A-G |
SUFU |
c.1216A>G |
p.I406V |
Missense |
10/12 |
- |
8-139164264-G-T |
FAM135B |
c.2454C>A |
p.D818E |
Missense |
13/20 |
- |
8-139165082-C-G |
FAM135B |
c.1636G>C |
p.G546R |
Missense |
13/20 |
- |
14-45620625-T-A |
FANCM |
c.944T>A |
p.L315* |
Nonsense |
5/23 |
- |
19-41758341-G-T |
AXL |
c.1797G>T |
p.R599S |
Missense |
15/20 |
- |
4-25678024-C-T |
SLC34A2 |
c.1726C>T |
p.Q576* |
Nonsense |
13/13 |
- |
16-72992745-T-C |
ZFHX3 |
c.1300A>G |
p.K434E |
Missense |
2/10 |
- |
7-142460284-G-A |
PRSS1 |
c.457G>A |
p.D153N |
Missense |
4/5 |
- |
17-62499074-T-A |
DDX5 |
c.953A>T |
p.D318V |
Missense |
8/13 |
- |
4-55971128-G-A |
KDR |
c.1669C>T |
p.P557S |
Missense |
13/30 |
- |
10-70405432-C-G |
TET1 |
c.2946C>G |
p.I982M |
Missense |
4/12 |
- |
5-112176494-G-A |
APC |
c.5203G>A |
p.G1735R |
Missense |
16/16 |
- |
14-95556842-T-C |
DICER1 |
c.5762A>G |
p.N1921S |
Missense |
27/27 |
- |
6-106553651-C-G |
PRDM1 |
c.1616C>G |
p.A539G |
Missense |
5/7 |
- |
16-9858252-C-G |
GRIN2A |
c.3149G>C |
p.R1050T |
Missense |
13/13 |
- |
2-141200100-C-A |
LRP1B |
c.10387G>T |
p.A3463S |
Missense |
66/91 |
- |
16-23614886-G-A |
PALB2 |
c.3455C>T |
p.P1152L |
Missense |
13/13 |
- |
8-68942798-A-G |
PREX2 |
c.610A>G |
p.M204V |
Missense |
6/40 |
- |
11-119155697-C-A |
CBL |
c.1450C>A |
p.P484T |
Missense |
10/16 |
- |
16-10995408-G-A |
CIITA |
c.474G>A |
p.W158* |
Nonsense |
6/20 |
- |
3-48627760-C-G |
COL7A1 |
c.1936G>C |
p.D646H |
Missense |
16/119 |
- |
7-42063198-C-T |
GLI3 |
c.1366G>A |
p.E456K |
Missense |
10/15 |
- |
6-114270411-C-T |
HDAC2 |
c.653G>A |
p.G218E |
Missense |
7/14 |
- |
19-17949101-G-T |
JAK3 |
c.1540C>A |
p.H514N |
Missense |
11/24 |
- |
17-29685640-A-T |
NF1 |
c.8113A>T |
p.S2705C |
Missense |
55/58 |
- |
16-23634345-T-A |
PALB2 |
c.2941A>T |
p.S981C |
Missense |
9/13 |
- |
9-116172360-C-A |
POLE3 |
c.127G>T |
p.V43F |
Missense |
3/5 |
- |
18-20562317-C-A |
RBBP8 |
c.565C>A |
p.Q189K |
Missense |
7/19 |
- |
1-158623130-A-T |
SPTA1 |
c.3122T>A |
p.M1041K |
Missense |
22/52 |
- |
13-26959424-C-G |
CDK8 |
c.591C>G |
p.F197L |
Missense |
6/13 |
- |
4-54915422-C-G |
CHIC2 |
c.170G>C |
p.G57A |
Missense |
2/6 |
- |
12-56488302-G-C |
ERBB3 |
c.1821G>C |
p.Q607H |
Missense |
15/28 |
- |
5-60240772-C-T |
ERCC8 |
c.64G>A |
p.E22K |
Missense |
1/12 |
- |
9-35078326-C-G |
FANCG |
c.322G>C |
p.E108Q |
Missense |
4/14 |
- |
X-132887628-C-G |
GPC3 |
c.913G>C |
p.E305Q |
Missense |
3/8 |
- |
12-124137084-C-G |
GTF2H3 |
c.433C>G |
p.H145D |
Missense |
6/13 |
- |
5-55253113-G-C |
IL6ST |
c.980C>G |
p.S327C |
Missense |
9/17 |
- |
19-48624445-C-A |
LIG1 |
c.2367G>T |
p.E789D |
Missense |
24/28 |
- |
12-124824684-G-T |
NCOR2 |
c.5555C>A |
p.S1852Y |
Missense |
39/49 |
- |
6-32163506-C-A |
NOTCH4 |
c.5720G>T |
p.G1907V |
Missense |
30/30 |
- |
19-52693350-A-T |
PPP2R1A |
c.1A>T |
p.M1? |
Missense |
1/15 |
- |
2-109392288-C-T |
RANBP2 |
c.8393C>T |
p.S2798F |
Missense |
24/29 |
- |
11-32456858-G-A |
WT1 |
c.34C>T |
p.P17S |
Missense |
1/10 |
- |
16-23647461-T-C |
PALB2 |
c.406A>G |
p.S136G |
Missense |
4/13 |
- |
2-141259398-C-G |
LRP1B |
c.8708G>C |
p.C2903S |
Missense |
55/91 |
- |
2-141079618-C-A |
LRP1B |
c.12554G>T |
p.C4185F |
Missense |
82/91 |
- |
1-76378474-G-T |
MSH4 |
c.2713G>T |
p.D905Y |
Missense |
20/20 |
- |
3-126724057-G-T |
PLXNA1 |
c.1868G>T |
p.R623L |
Missense |
7/32 |
- |
20-43959190-G-C |
SDC4 |
c.261C>G |
p.N87K |
Missense |
4/5 |
- |
4-106157591-A-T |
TET2 |
c.2492A>T |
p.Q831L |
Missense |
3/11 |
- |
11-32417835-G-A |
WT1 |
c.1217C>T |
p.S411F |
Missense |
7/10 |
- |
6-41904424-A-C |
CCND3 |
c.584T>G |
p.F195C |
Missense |
4/5 |
- |
22-19171040-C-A |
CLTCL1 |
c.4690G>T |
p.E1564* |
Nonsense |
30/33 |
- |
11-107966331-G-C |
CUL5 |
c.1818G>C |
p.W606C |
Missense |
16/19 |
- |
8-139164295-G-A |
FAM135B |
c.2423C>T |
p.S808F |
Missense |
13/20 |
- |
10-70442684-C-T |
TET1 |
c.5006C>T |
p.A1669V |
Missense |
10/12 |
- |
16-72828396-G-A |
ZFHX3 |
c.8185C>T |
p.H2729Y |
Missense |
9/10 |
- |
1-76282183-C-T |
MSH4 |
c.941C>T |
p.S314L |
Missense |
6/20 |
- |
1-35656533-G-C |
SFPQ |
c.1081C>G |
p.Q361E |
Missense |
3/10 |
- |
16-23619315-G-C |
PALB2 |
c.3220C>G |
p.L1074V |
Missense |
12/13 |
- |
8-41582045-C-T |
ANK1 |
c.640G>A |
p.A214T |
Missense |
7/43 |
- |
16-88947829-C-G |
CBFA2T3 |
c.1272G>C |
p.Q424H |
Missense |
9/12 |
- |
7-137567224-G-A |
CREB3L2 |
c.1421C>T |
p.P474L |
Missense |
11/12 |
- |
13-29068967-C-A |
FLT1 |
c.14G>T |
p.W5L |
Missense |
1/30 |
- |
3-138664991-G-T |
FOXL2 |
c.574C>A |
p.P192T |
Missense |
1/1 |
- |
7-42063147-C-T |
GLI3 |
c.1417G>A |
p.E473K |
Missense |
10/15 |
- |
9-80336358-C-T |
GNAQ |
c.961G>A |
p.D321N |
Missense |
7/7 |
- |
12-49425055-C-A |
KMT2D |
c.13433G>T |
p.R4478L |
Missense |
40/55 |
- |
1-150551376-C-G |
MCL1 |
c.631G>C |
p.E211Q |
Missense |
1/3 |
- |
11-85685842-C-T |
PICALM |
c.1853G>A |
p.G618E |
Missense |
19/20 |
- |
2-190728875-G-A |
PMS1 |
c.2263G>A |
p.A755T |
Missense |
10/13 |
- |
7-44116143-T-C |
POLM |
c.800A>G |
p.E267G |
Missense |
6/11 |
- |
5-23509593-C-A |
PRDM9 |
c.84C>A |
p.F28L |
Missense |
3/11 |
- |
11-60671286-G-A |
PRPF19 |
c.67C>T |
p.H23Y |
Missense |
2/16 |
- |
3-51697428-G-T |
RAD54L2 |
c.4396G>T |
p.G1466W |
Missense |
23/23 |
- |
3-51696873-G-T |
RAD54L2 |
c.3841G>T |
p.V1281L |
Missense |
23/23 |
- |
2-152314405-G-A |
RIF1 |
c.2783G>A |
p.R928Q |
Missense |
24/36 |
- |
X-96139944-G-T |
RPA4 |
c.635G>T |
p.C212F |
Missense |
1/1 |
- |
9-101894832-G-A |
TGFBR1 |
c.385G>A |
p.V129I |
Missense |
3/9 |
- |
9-135771852-C-A |
TSC1 |
c.3265G>T |
p.G1089C |
Missense |
23/23 |
- |
14-81610029-G-T |
TSHR |
c.1627G>T |
p.V543F |
Missense |
10/10 |
- |
3-10191612-C-T |
VHL |
c.605C>T |
p.T202I |
Missense |
3/3 |
- |
17-30264275-C-G |
SUZ12 |
c.10C>G |
p.Q4E |
Missense |
1/16 |
- |
12-124848314-G-C |
NCOR2 |
c.2839C>G |
p.P947A |
Missense |
23/49 |
- |
16-23646944-G-C |
PALB2 |
c.923C>G |
p.A308G |
Missense |
4/13 |
- |
16-23646924-G-T |
PALB2 |
c.943C>A |
p.L315M |
Missense |
4/13 |
- |
10-123298157-C-A |
FGFR2 |
c.697G>T |
p.V233L |
Missense |
6/18 |
- |
X-70344971-A-G |
MED12 |
c.2201A>G |
p.Y734C |
Missense |
15/45 |
- |
10-104375054-G-C |
SUFU |
c.1052G>C |
p.S351T |
Missense |
9/12 |
- |
4-106196694-A-T |
TET2 |
c.5027A>T |
p.H1676L |
Missense |
11/11 |
- |
3-142232423-C-T |
ATR |
c.4561G>A |
p.D1521N |
Missense |
26/47 |
- |
5-176524336-A-T |
FGFR4 |
c.2197A>T |
p.R733W |
Missense |
17/18 |
- |
17-17118305-C-T |
FLCN |
c.1532G>A |
p.W511* |
Nonsense |
13/14 |
- |
4-55971119-G-A |
KDR |
c.1678C>T |
p.Q560* |
Nonsense |
13/30 |
- |
9-20620794-G-T |
MLLT3 |
c.52C>A |
p.Q18K |
Missense |
2/11 |
- |
17-63534442-T-A |
AXIN2 |
c.1079A>T |
p.K360M |
Missense |
5/11 |
- |
16-23641257-G-C |
PALB2 |
c.2218C>G |
p.Q740E |
Missense |
5/13 |
- |
17-59761036-T-A |
BRIP1 |
c.3371A>T |
p.E1124V |
Missense |
20/20 |
- |
5-24535329-C-A |
CDH10 |
c.706G>T |
p.V236F |
Missense |
5/12 |
- |
11-118635946-C-G |
DDX6 |
c.617G>C |
p.R206P |
Missense |
6/14 |
- |
8-139149413-G-T |
FAM135B |
c.3992C>A |
p.T1331N |
Missense |
19/20 |
- |
3-59999857-C-A |
FHIT |
c.125G>T |
p.R42L |
Missense |
6/10 |
- |
4-25674865-CCAT-C |
SLC34A2 |
c.1208_1210delTCA |
p.I403del |
InFrameDeletion |
10/13 |
- |
2-212537966-C-T |
ERBB4 |
c.1639G>A |
p.E547K |
Missense |
14/28 |
- |
X-47040995-C-T |
RBM10 |
c.1525C>T |
p.Q509* |
Nonsense |
14/24 |
- |
4-55953780-C-A |
KDR |
c.3656G>T |
p.G1219V |
Missense |
27/30 |
- |
1-45798289-C-A |
MUTYH |
c.563G>T |
p.G188V |
Missense |
8/16 |
- |
13-25074506-C-A |
PARP4 |
c.349G>T |
p.G117C |
Missense |
4/34 |
- |
6-106553256-C-A |
PRDM1 |
c.1221C>A |
p.N407K |
Missense |
5/7 |
- |
1-3328945-G-T |
PRDM16 |
c.2184G>T |
p.Q728H |
Missense |
9/17 |
- |
7-73661028-C-A |
RFC2 |
c.398G>T |
p.G133V |
Missense |
5/11 |
- |
6-169632151-C-G |
THBS2 |
c.2075G>C |
p.G692A |
Missense |
13/22 |
- |
2-237489846-G-C |
ACKR3 |
c.738G>C |
p.E246D |
Missense |
2/2 |
- |
20-54945670-C-T |
AURKA |
c.900G>A |
p.M300I |
Missense |
8/9 |
- |
11-125513755-C-G |
CHEK1 |
c.883C>G |
p.Q295E |
Missense |
9/13 |
- |
5-11411747-C-G |
CTNND2 |
c.340G>C |
p.E114Q |
Missense |
5/22 |
- |
22-41572937-C-G |
EP300 |
c.5222C>G |
p.S1741C |
Missense |
31/31 |
- |
22-41573386-C-G |
EP300 |
c.5671C>G |
p.Q1891E |
Missense |
31/31 |
- |
1-8073324-C-T |
ERRFI1 |
c.1335G>A |
p.M445I |
Missense |
4/4 |
- |
9-5050746-G-C |
JAK2 |
c.529G>C |
p.E177Q |
Missense |
6/25 |
- |
7-151876929-G-C |
KMT2C |
c.7432C>G |
p.H2478D |
Missense |
37/59 |
- |
15-40916600-G-A |
KNL1 |
c.4138G>A |
p.D1380N |
Missense |
10/26 |
- |
1-120462938-T-C |
NOTCH2 |
c.5393A>G |
p.D1798G |
Missense |
30/34 |
- |
4-1955231-C-G |
NSD2 |
c.2318C>G |
p.S773* |
Nonsense |
12/22 |
- |
16-56855431-G-A |
NUP93 |
c.580G>A |
p.E194K |
Missense |
7/22 |
- |
10-103344568-C-T |
POLL |
c.682G>A |
p.E228K |
Missense |
5/9 |
- |
10-72360573-G-T |
PRF1 |
c.86C>A |
p.S29* |
Nonsense |
2/3 |
- |
2-109365525-G-A |
RANBP2 |
c.1213G>A |
p.D405N |
Missense |
9/29 |
- |
7-73649939-C-T |
RFC2 |
c.877G>A |
p.E293K |
Missense |
10/11 |
- |
18-42281527-C-A |
SETBP1 |
c.216C>A |
p.N72K |
Missense |
2/6 |
- |
1-62916299-C-T |
USP1 |
c.2005C>T |
p.L669F |
Missense |
9/9 |
- |
17-80789435-G-T |
ZNF750 |
c.896C>A |
p.P299Q |
Missense |
2/3 |
- |
1-27106858-G-T |
ARID1A |
c.6469G>T |
p.D2157Y |
Missense |
20/20 |
- |
3-8983296-A-T |
RAD18 |
c.459T>A |
p.N153K |
Missense |
5/13 |
- |
3-133320121-A-T |
TOPBP1 |
c.4542T>A |
p.N1514K |
Missense |
28/28 |
- |
4-1346866-T-C |
UVSSA |
c.599T>C |
p.F200S |
Missense |
5/14 |
- |
7-26236993-GCAGCCATGGCAGCATCAACCT-G |
HNRNPA2B1 |
c.185_205del21 |
p.E62_A68del |
InFrameDeletion |
3/11 |
- |
15-80464523-AGAGC-CT |
FAH |
c.639_643delinsCT |
p.E214_P215delinsS |
MultiAAMissense |
8/14 |
- |
9-5050780-G-T |
JAK2 |
c.563G>T |
p.R188I |
Missense |
6/25 |
- |
2-234669217-T-C |
UGT1A1 |
c.284T>C |
p.L95P |
Missense |
1/5 |
- |
5-11384843-G-A |
CTNND2 |
c.1111C>T |
p.Q371* |
Nonsense |
7/22 |
- |
10-27112113-G-A |
ABI1 |
c.239C>T |
p.A80V |
Missense |
2/11 |
- |
2-215674208-T-C |
BARD1 |
c.86A>G |
p.D29G |
Missense |
1/11 |
- |
15-93489062-A-G |
CHD2 |
c.1165A>G |
p.S389G |
Missense |
11/39 |
- |
2-212288922-G-T |
ERBB4 |
c.2824C>A |
p.P942T |
Missense |
23/28 |
- |
2-239179991-G-A |
PER2 |
c.734C>T |
p.P245L |
Missense |
6/23 |
- |
17-40485751-G-T |
STAT3 |
c.989C>A |
p.P330H |
Missense |
10/24 |
- |
16-23647469-C-T |
PALB2 |
c.398G>A |
p.S133N |
Missense |
4/13 |
- |
2-141264407-C-G |
LRP1B |
c.8479G>C |
p.D2827H |
Missense |
53/91 |
- |
18-51820472-G-T |
POLI |
c.1858G>T |
p.D620Y |
Missense |
10/10 |
- |
5-23527554-G-T |
PRDM9 |
c.2357G>T |
p.R786I |
Missense |
11/11 |
- |
3-142277550-A-G |
ATR |
c.1801T>C |
p.S601P |
Missense |
8/47 |
- |
2-212522495-A-T |
ERBB4 |
c.1930T>A |
p.L644I |
Missense |
16/28 |
- |
11-118377252-C-T |
KMT2A |
c.10645C>T |
p.P3549S |
Missense |
27/36 |
- |
2-141081542-T-C |
LRP1B |
c.12434A>G |
p.H4145R |
Missense |
81/91 |
- |
4-2209818-C-A |
POLN |
c.610G>T |
p.D204Y |
Missense |
5/26 |
- |
8-92982932-G-T |
RUNX1T1 |
c.1382C>A |
p.A461E |
Missense |
10/11 |
- |
3-47147560-A-C |
SETD2 |
c.4766T>G |
p.F1589C |
Missense |
6/21 |
- |
2-39249768-T-A |
SOS1 |
c.1801A>T |
p.I601F |
Missense |
10/23 |
- |
5-1295047-C-A |
TERT |
c.58G>T |
p.E20* |
Nonsense |
1/16 |
- |
1-150795793-G-A |
ARNT |
c.1271C>T |
p.S424F |
Missense |
14/22 |
- |
X-76953101-G-C |
ATRX |
c.212C>G |
p.S71C |
Missense |
4/35 |
- |
X-76953110-G-A |
ATRX |
c.203C>T |
p.S68L |
Missense |
4/35 |
- |
3-52436654-A-G |
BAP1 |
c.2020T>C |
p.F674L |
Missense |
16/17 |
- |
5-11385202-GC-TT |
CTNND2 |
c.751_752delinsAA |
p.A251K |
Missense |
7/22 |
- |
5-149497256-T-C |
PDGFRB |
c.3062A>G |
p.Y1021C |
Missense |
22/23 |
- |
14-99641988-G-C |
BCL11B |
c.1185C>G |
p.F395L |
Missense |
4/4 |
- |
14-35231418-C-A |
BAZ1A |
c.3788G>T |
p.R1263L |
Missense |
24/27 |
- |
12-46246251-A-C |
ARID2 |
c.4345A>C |
p.N1449H |
Missense |
15/21 |
- |
14-35269537-C-T |
BAZ1A |
c.1021G>A |
p.E341K |
Missense |
9/27 |
- |
7-2972181-A-C |
CARD11 |
c.1558T>G |
p.S520A |
Missense |
11/25 |
- |
5-11385122-T-G |
CTNND2 |
c.832A>C |
p.T278P |
Missense |
7/22 |
- |
3-89499462-C-G |
EPHA3 |
c.2632C>G |
p.L878V |
Missense |
15/17 |
- |
8-139263241-C-A |
FAM135B |
c.385G>T |
p.G129W |
Missense |
6/20 |
- |
4-187628332-C-A |
FAT1 |
c.2650G>T |
p.D884Y |
Missense |
2/27 |
- |
2-140997050-G-T |
LRP1B |
c.13376C>A |
p.T4459N |
Missense |
88/91 |
- |
2-141135814-C-A |
LRP1B |
c.10573G>T |
p.G3525W |
Missense |
68/91 |
- |
2-141202233-T-A |
LRP1B |
c.10073A>T |
p.Q3358L |
Missense |
64/91 |
- |
11-77070009-C-A |
PAK1 |
c.531G>T |
p.E177D |
Missense |
6/15 |
- |
13-67801530-A-C |
PCDH9 |
c.1043T>G |
p.V348G |
Missense |
2/5 |
- |
4-55141080-G-T |
PDGFRA |
c.1726G>T |
p.D576Y |
Missense |
12/23 |
- |
8-139151306-C-G |
FAM135B |
c.3824G>C |
p.G1275A |
Missense |
18/20 |
- |
16-89825054-C-A |
FANCA |
c.2912G>T |
p.G971V |
Missense |
30/43 |
- |
1-91850744-G-C |
HFM1 |
c.802C>G |
p.P268A |
Missense |
6/39 |
- |
19-15288896-G-C |
NOTCH3 |
c.3843C>G |
p.F1281L |
Missense |
24/33 |
- |
17-58678138-G-A |
PPM1D |
c.363G>A |
p.W121* |
Nonsense |
1/6 |
- |
17-78899251-G-A |
RPTOR |
c.2890G>A |
p.A964T |
Missense |
24/34 |
- |
4-25678223-G-C |
SLC34A2 |
c.1925G>C |
p.S642T |
Missense |
13/13 |
- |
11-114113017-C-G |
ZBTB16 |
c.1582C>G |
p.P528A |
Missense |
5/7 |
- |
20-52192857-T-A |
ZNF217 |
c.2446A>T |
p.S816C |
Missense |
4/6 |
- |
16-2108815-G-A |
TSC2 |
c.916G>A |
p.A306T |
Missense |
10/42 |
- |
5-23522845-G-T |
PRDM9 |
c.733G>T |
p.G245W |
Missense |
8/11 |
- |
7-55231493-A-G |
EGFR |
c.1699A>G |
p.M567V |
Missense |
14/28 |
- |
16-23619314-A-C |
PALB2 |
c.3221T>G |
p.L1074R |
Missense |
12/13 |
- |
3-121155065-T-C |
POLQ |
c.7447A>G |
p.I2483V |
Missense |
28/30 |
- |
4-25678205-CCAAGTGCTGCCGCTGCAG-C |
SLC34A2 |
c.1918_1935del18 |
p.R640_C645del |
InFrameDeletion |
13/13 |
- |
2-212248520-AGGTG-TT |
ERBB4 |
c.3743_3747delinsAA |
p.P1248_P1249delinsQ |
MultiAAMissense |
28/28 |
- |
16-89833592-C-A |
FANCA |
c.2558G>T |
p.R853L |
Missense |
27/43 |
- |
8-139277959-A-G |
FAM135B |
c.284T>C |
p.L95S |
Missense |
4/20 |
- |
15-40913801-A-G |
KNL1 |
c.1339A>G |
p.R447G |
Missense |
10/26 |
- |
9-139413132-T-A |
NOTCH1 |
c.1010A>T |
p.D337V |
Missense |
6/34 |
- |
12-57597239-G-A |
LRP1 |
c.10886G>A |
p.R3629H |
Missense |
70/89 |
- |
7-81372740-C-A |
HGF |
c.794G>T |
p.G265V |
Missense |
7/18 |
- |
12-49426825-T-C |
KMT2D |
c.11663A>G |
p.K3888R |
Missense |
40/55 |
- |
12-49440509-C-T |
KMT2D |
c.4301G>A |
p.G1434D |
Missense |
16/55 |
- |
12-57595318-A-G |
LRP1 |
c.10384A>G |
p.I3462V |
Missense |
66/89 |
- |
21-36171619-C-A |
RUNX1 |
c.946G>T |
p.E316* |
Nonsense |
8/9 |
- |
12-57563051-G-T |
LRP1 |
c.3124G>T |
p.D1042Y |
Missense |
20/89 |
- |
1-120496231-T-G |
NOTCH2 |
c.2300A>C |
p.Q767P |
Missense |
14/34 |
- |
12-57532324-G-T |
LRP1 |
c.150G>T |
p.E50D |
Missense |
2/89 |
- |
18-48584742-TGCA-T |
SMAD4 |
c.820_822delGCA |
p.A274del |
InFrameDeletion |
7/12 |
- |
12-49436049-C-A |
KMT2D |
c.5932G>T |
p.G1978C |
Missense |
29/55 |
- |
12-57604261-C-G |
LRP1 |
c.12752C>G |
p.S4251C |
Missense |
82/89 |
- |
12-49434696-T-A |
KMT2D |
c.6857A>T |
p.E2286V |
Missense |
32/55 |
- |
9-2029224-G-T |
SMARCA2 |
c.202G>T |
p.E68* |
Nonsense |
2/34 |
- |
12-49443517-T-C |
KMT2D |
c.3854A>G |
p.E1285G |
Missense |
12/55 |
- |
X-70356467-A-C |
MED12 |
c.5362A>C |
p.K1788Q |
Missense |
37/45 |
- |
X-70348526-G-T |
MED12 |
c.3433G>T |
p.D1145Y |
Missense |
24/45 |
- |
X-70361791-G-T |
MED12 |
c.6467G>T |
p.R2156L |
Missense |
44/45 |
- |
1-120478167-G-C |
NOTCH2 |
c.3583C>G |
p.P1195A |
Missense |
22/34 |
- |
16-9916155-C-T |
GRIN2A |
c.2134G>A |
p.G712R |
Missense |
10/13 |
- |
9-2047283-C-T |
SMARCA2 |
c.845C>T |
p.A282V |
Missense |
5/34 |
- |
12-49440462-T-A |
KMT2D |
c.4348A>T |
p.I1450F |
Missense |
16/55 |
- |
1-120459145-A-T |
NOTCH2 |
c.6200T>A |
p.V2067E |
Missense |
34/34 |
- |
16-9862936-C-G |
GRIN2A |
c.2367G>C |
p.E789D |
Missense |
12/13 |
- |
16-9862936-C-A |
GRIN2A |
c.2367G>T |
p.E789D |
Missense |
12/13 |
- |
9-2039818-ACAGCAG-A |
SMARCA2 |
c.710_715delAGCAGC |
p.Q237_Q238del |
InFrameDeletion |
4/34 |
- |
12-115120657-G-C |
TBX3 |
c.349C>G |
p.H117D |
Missense |
1/7 |
- |
12-49416391-C-G |
KMT2D |
c.16320G>C |
p.E5440D |
Missense |
52/55 |
- |
6-94129004-A-C |
EPHA7 |
c.56T>G |
p.L19R |
Missense |
1/17 |
- |
7-81392035-G-T |
HGF |
c.242C>A |
p.P81Q |
Missense |
2/18 |
- |
7-81392186-C-A |
HGF |
c.91G>T |
p.G31* |
Nonsense |
2/18 |
- |
12-115112024-CCC-GCT |
TBX3 |
c.1654_1656delGGGinsAGC |
p.G552S |
Missense |
6/7 |
- |
16-3817899-C-G |
CREBBP |
c.3072G>C |
p.E1024D |
Missense |
16/31 |
- |
16-3817899-C-A |
CREBBP |
c.3072G>T |
p.E1024D |
Missense |
16/31 |
- |
4-187538244-G-A |
FAT1 |
c.8990C>T |
p.T2997M |
Missense |
11/27 |
- |
13-110435960-T-C |
IRS2 |
c.2441A>G |
p.Y814C |
Missense |
1/2 |
- |
4-187628631-G-A |
FAT1 |
c.2351C>T |
p.T784I |
Missense |
2/27 |
- |
8-128753080-C-A |
MYC |
c.1241C>A |
p.A414D |
Missense |
3/3 |
- |
13-110437863-C-A |
IRS2 |
c.538G>T |
p.A180S |
Missense |
1/2 |
- |
4-187629658-C-T |
FAT1 |
c.1324G>A |
p.D442N |
Missense |
2/27 |
- |
X-70680558-G-C |
TAF1 |
c.5364G>C |
p.E1768D |
Missense |
37/38 |
- |
X-70680558-G-T |
TAF1 |
c.5304G>T |
p.E1768D |
Missense |
37/38 |
- |
13-110438117-A-G |
IRS2 |
c.284T>C |
p.L95P |
Missense |
1/2 |
- |
4-187532548-G-C |
FAT1 |
c.9845C>G |
p.S3282C |
Missense |
14/27 |
- |
1-16256699-G-C |
SPEN |
c.3964G>C |
p.D1322H |
Missense |
11/15 |
- |
1-16261949-C-G |
SPEN |
c.9214C>G |
p.H3072D |
Missense |
11/15 |
- |
4-187538923-G-C |
FAT1 |
c.8817C>G |
p.I2939M |
Missense |
10/27 |
- |
3-52584798-T-C |
PBRM1 |
c.4324A>G |
p.T1442A |
Missense |
28/30 |
- |
4-187525680-C-A |
FAT1 |
c.10399G>T |
p.E3467* |
Nonsense |
18/27 |
- |
8-68981319-A-G |
PREX2 |
c.1391A>G |
p.Y464C |
Missense |
12/40 |
- |
3-47164304-C-A |
SETD2 |
c.1822G>T |
p.E608* |
Nonsense |
3/21 |
- |
8-68942774-G-T |
PREX2 |
c.586G>T |
p.A196S |
Missense |
6/40 |
- |
X-70357781-CC-TG |
MED12 |
c.6032_6033delCCinsTG |
p.T2011M |
Missense |
41/45 |
- |
3-47125724-G-C |
SETD2 |
c.5546C>G |
p.S1849W |
Missense |
12/21 |
- |
5-38949917-A-C |
RICTOR |
c.4033T>G |
p.L1345V |
Missense |
31/38 |
- |
3-47165651-T-A |
SETD2 |
c.475A>T |
p.T159S |
Missense |
3/21 |
- |
2-178098984-C-A |
NFE2L2 |
c.61G>T |
p.D21Y |
Missense |
2/5 |
- |
18-48584506-A-G |
SMAD4 |
c.679A>G |
p.S227G |
Missense |
6/12 |
- |
12-49446748-TCC-ACA |
KMT2D |
c.1060_1062delGGAinsTGT |
p.G354C |
Missense |
9/55 |
- |
5-11110975-C-T |
CTNND2 |
c.2458G>A |
p.D820N |
Missense |
14/22 |
- |
4-20543124-G-T |
SLIT2 |
c.2025G>T |
p.L675F |
Missense |
20/37 |
- |
5-11236868-C-A |
CTNND2 |
c.1696G>T |
p.V566F |
Missense |
10/22 |
- |
19-15280908-T-A |
NOTCH3 |
c.5188A>T |
p.K1730* |
Nonsense |
28/33 |
- |
4-175898075-T-C |
ADAM29 |
c.1399T>C |
p.W467R |
Missense |
5/5 |
- |
11-118376225-G-C |
KMT2A |
c.9618G>C |
p.Q3206H |
Missense |
27/36 |
- |
17-63554240-C-T |
AXIN2 |
c.499G>A |
p.D167N |
Missense |
2/11 |
- |
11-125513786-G-C |
CHEK1 |
c.914G>C |
p.S305T |
Missense |
9/13 |
- |
5-176524364-C-G |
FGFR4 |
c.2225C>G |
p.A742G |
Missense |
17/18 |
- |
4-20618628-A-T |
SLIT2 |
c.3943A>T |
p.S1315C |
Missense |
35/37 |
- |
19-15291035-C-A |
NOTCH3 |
c.3175G>T |
p.G1059W |
Missense |
20/33 |
- |
22-24145525-C-G |
SMARCB1 |
c.544C>G |
p.Q182E |
Missense |
5/9 |
- |
5-176522723-A-G |
FGFR4 |
c.1820A>G |
p.K607R |
Missense |
13/18 |
- |
8-139190903-G-C |
FAM135B |
c.904C>G |
p.Q302E |
Missense |
10/20 |
- |
18-48575674-G-T |
SMAD4 |
c.434G>T |
p.G145V |
Missense |
4/12 |
- |
X-39932554-T-A |
BCOR |
c.2045A>T |
p.H682L |
Missense |
4/15 |
- |
18-18546966-C-G |
ROCK1 |
c.3264G>C |
p.E1088D |
Missense |
27/33 |
- |
19-10472789-T-A |
TYK2 |
c.1738A>T |
p.S580C |
Missense |
12/25 |
- |
18-18572812-T-A |
ROCK1 |
c.1972A>T |
p.M658L |
Missense |
17/33 |
- |
8-139163888-C-A |
FAM135B |
c.2830G>T |
p.D944Y |
Missense |
13/20 |
- |
19-10476399-G-A |
TYK2 |
c.805C>T |
p.R269C |
Missense |
7/25 |
- |
13-28622559-G-C |
FLT3 |
c.1058C>G |
p.T353S |
Missense |
9/24 |
- |
19-10464256-C-A |
TYK2 |
c.2975G>T |
p.R992L |
Missense |
21/25 |
- |
6-93956531-G-C |
EPHA7 |
c.2705C>G |
p.T902S |
Missense |
15/17 |
- |
18-18566917-C-G |
ROCK1 |
c.2298G>C |
p.E766D |
Missense |
19/33 |
- |
8-139209873-C-G |
FAM135B |
c.709G>C |
p.A237P |
Missense |
8/20 |
- |
8-37556173-C-T |
ZNF703 |
c.1754C>T |
p.S585L |
Missense |
2/2 |
- |
8-37691596-G-T |
ADGRA2 |
c.1558G>T |
p.E520* |
Nonsense |
11/19 |
- |
18-18534990-C-A |
ROCK1 |
c.3607G>T |
p.E1203* |
Nonsense |
31/33 |
- |
8-37555705-C-T |
ZNF703 |
c.1286C>T |
p.S429L |
Missense |
2/2 |
- |
4-175897489-G-T |
ADAM29 |
c.813G>T |
p.K271N |
Missense |
5/5 |
- |
8-139163887-T-A |
FAM135B |
c.2831A>T |
p.D944V |
Missense |
13/20 |
- |
8-37695353-G-C |
ADGRA2 |
c.2155G>C |
p.G719R |
Missense |
14/19 |
- |
13-28588656-C-A |
FLT3 |
c.2792G>T |
p.R931M |
Missense |
23/24 |
- |
8-37553534-C-T |
ZNF703 |
c.37C>T |
p.P13S |
Missense |
1/2 |
- |
8-37697739-C-A |
ADGRA2 |
c.2612C>A |
p.P871Q |
Missense |
17/19 |
- |
18-18586366-C-T |
ROCK1 |
c.1831G>A |
p.E611K |
Missense |
16/33 |
- |
12-46211469-T-G |
ARID2 |
c.435T>G |
p.S145R |
Missense |
5/21 |
- |
8-37692903-C-A |
ADGRA2 |
c.1820C>A |
p.S607Y |
Missense |
12/19 |
- |
8-37691236-C-A |
ADGRA2 |
c.1327C>A |
p.L443M |
Missense |
10/19 |
- |
9-139412386-G-A |
NOTCH1 |
c.1259C>T |
p.A420V |
Missense |
8/34 |
- |
X-47030454-G-C |
RBM10 |
c.229G>C |
p.E77Q |
Missense |
4/24 |
- |
12-46211464-C-G |
ARID2 |
c.430C>G |
p.Q144E |
Missense |
5/21 |
- |
8-37698298-G-A |
ADGRA2 |
c.2678G>A |
p.G893E |
Missense |
18/19 |
- |
10-104268958-G-T |
SUFU |
c.215G>T |
p.S72I |
Missense |
2/12 |
- |
12-46287426-G-T |
ARID2 |
c.5285G>T |
p.G1762V |
Missense |
20/21 |
- |
8-139190879-G-A |
FAM135B |
c.928C>T |
p.L310F |
Missense |
10/20 |
- |
8-37692736-C-A |
ADGRA2 |
c.1653C>A |
p.H551Q |
Missense |
12/19 |
- |
X-47039636-T-G |
RBM10 |
c.1088T>G |
p.L363R |
Missense |
11/24 |
- |
3-52439804-G-A |
BAP1 |
c.908C>T |
p.A303V |
Missense |
10/17 |
- |
5-39003717-C-A |
RICTOR |
c.203G>T |
p.C68F |
Missense |
4/38 |
- |
19-10599875-G-T |
KEAP1 |
c.1701C>A |
p.Y567* |
Nonsense |
5/6 |
- |
17-33446587-T-C |
RAD51D |
c.46A>G |
p.M16V |
Missense |
1/10 |
- |
X-76937030-C-T |
ATRX |
c.3718G>A |
p.G1240R |
Missense |
9/35 |
- |
4-20555511-G-T |
SLIT2 |
c.2645G>T |
p.G882V |
Missense |
26/37 |
- |
19-10610409-C-T |
KEAP1 |
c.301G>A |
p.A101T |
Missense |
2/6 |
- |
X-76938270-C-A |
ATRX |
c.2478G>T |
p.K826N |
Missense |
9/35 |
- |
19-10599891-T-G |
KEAP1 |
c.1685A>C |
p.H562P |
Missense |
5/6 |
- |
3-169998165-A-G |
PRKCI |
c.856A>G |
p.K286E |
Missense |
9/18 |
- |
12-57554704-G-T |
LRP1 |
c.2008G>T |
p.D670Y |
Missense |
13/89 |
- |
12-49424527-C-T |
KMT2D |
c.13696G>A |
p.E4566K |
Missense |
42/55 |
- |
4-20490482-G-A |
SLIT2 |
c.652G>A |
p.A218T |
Missense |
8/37 |
- |
19-15311712-C-A |
NOTCH3 |
c.5G>T |
p.G2V |
Missense |
1/33 |
- |
5-11159777-G-T |
CTNND2 |
c.2070C>A |
p.H690Q |
Missense |
12/22 |
- |
19-15288753-C-A |
NOTCH3 |
c.3986G>T |
p.G1329V |
Missense |
24/33 |
- |
12-57859571-G-T |
GLI1 |
c.625G>T |
p.D209Y |
Missense |
7/12 |
- |
2-25470018-C-G |
DNMT3A |
c.1024G>C |
p.E342Q |
Missense |
9/23 |
- |
7-128845620-C-T |
SMO |
c.917C>T |
p.P306L |
Missense |
4/12 |
- |
7-151884466-G-T |
KMT2C |
c.4889C>A |
p.S1630* |
Nonsense |
33/59 |
- |
1-120508086-C-A |
NOTCH2 |
c.1671G>T |
p.Q557H |
Missense |
10/34 |
- |
1-120508086-C-G |
NOTCH2 |
c.1671G>C |
p.Q557H |
Missense |
10/34 |
- |
4-20525800-G-T |
SLIT2 |
c.1438G>T |
p.A480S |
Missense |
14/37 |
- |
7-151859914-G-A |
KMT2C |
c.10748C>T |
p.P3583L |
Missense |
43/59 |
- |
19-15297773-C-T |
NOTCH3 |
c.1867G>A |
p.D623N |
Missense |
12/33 |
- |
X-70603983-CGG-TGT |
TAF1 |
c.2179_2181delCGGinsTGT |
p.R707C |
Missense |
13/38 |
- |
7-151859998-G-C |
KMT2C |
c.10664C>G |
p.P3555R |
Missense |
43/59 |
- |
4-175898672-C-A |
ADAM29 |
c.1996C>A |
p.P666T |
Missense |
5/5 |
- |
12-57864752-T-A |
GLI1 |
c.2229T>A |
p.Y743* |
Nonsense |
12/12 |
- |
2-25536819-G-C |
DNMT3A |
c.35C>G |
p.T12S |
Missense |
2/23 |
- |
22-41562638-GAACTAGGAAAGAAAATAAGTTTTCTGCTAA-G |
EP300 |
c.3845_3874del30 |
p.T1282_K1291del |
InFrameDeletion |
23/31 |
- |
7-81334798-C-T |
HGF |
c.1918G>A |
p.E640K |
Missense |
17/18 |
- |
7-81392087-C-A |
HGF |
c.190G>T |
p.V64L |
Missense |
2/18 |
- |
15-40913801-AGA-TGT |
KNL1 |
c.1339_1341delAGAinsTGT |
p.R447C |
Missense |
10/26 |
- |
7-81358958-G-A |
HGF |
c.1003C>T |
p.H335Y |
Missense |
8/18 |
- |
7-151859879-C-A |
KMT2C |
c.10783G>T |
p.D3595Y |
Missense |
43/59 |
- |
7-151900080-AT-TA |
KMT2C |
c.4030_4031delATinsTA |
p.I1344* |
Nonsense |
26/59 |
- |
4-175898849-C-G |
ADAM29 |
c.2173C>G |
p.P725A |
Missense |
5/5 |
- |
4-20620609-G-T |
SLIT2 |
c.4567G>T |
p.G1523C |
Missense |
37/37 |
- |
7-152132792-G-T |
KMT2C |
c.80C>A |
p.P27Q |
Missense |
1/59 |
- |
7-151874130-G-A |
KMT2C |
c.8408C>T |
p.T2803I |
Missense |
38/59 |
- |
5-35873598-G-T |
IL7R |
c.554G>T |
p.S185I |
Missense |
5/8 |
- |
7-151874552-C-A |
KMT2C |
c.7986G>T |
p.L2662F |
Missense |
38/59 |
- |
6-93964429-C-A |
EPHA7 |
c.2468G>T |
p.G823V |
Missense |
14/17 |
- |
5-56161261-G-C |
MAP3K1 |
c.1130G>C |
p.R377T |
Missense |
5/20 |
- |
4-143045777-C-G |
INPP4B |
c.1857G>C |
p.M619I |
Missense |
19/26 |
- |
4-143045777-C-T |
INPP4B |
c.1857G>A |
p.M619I |
Missense |
19/26 |
- |
2-25497834-C-A |
DNMT3A |
c.615G>T |
p.E205D |
Missense |
6/23 |
- |
1-120458487-G-T |
NOTCH2 |
c.6858C>A |
p.S2286R |
Missense |
34/34 |
- |
5-176520497-G-C |
FGFR4 |
c.1342G>C |
p.G448R |
Missense |
10/18 |
- |
13-110437074-T-A |
IRS2 |
c.1327A>T |
p.T443S |
Missense |
1/2 |
- |
12-49438220-T-G |
KMT2D |
c.5049A>C |
p.E1683D |
Missense |
21/55 |
- |
1-120468106-T-C |
NOTCH2 |
c.4333A>G |
p.S1445G |
Missense |
25/34 |
- |
13-110436394-G-T |
IRS2 |
c.2007C>A |
p.S669R |
Missense |
1/2 |
- |
4-187534455-C-T |
FAT1 |
c.9271G>A |
p.A3091T |
Missense |
13/27 |
- |
16-3781436-G-C |
CREBBP |
c.4929C>G |
p.I1643M |
Missense |
30/31 |
- |
7-2968281-C-A |
CARD11 |
c.1705G>T |
p.G569* |
Nonsense |
13/25 |
- |
X-53250025-A-G |
KDM5C |
c.224T>C |
p.L75P |
Missense |
2/26 |
- |
7-2946391-G-T |
CARD11 |
c.3346C>A |
p.L1116M |
Missense |
25/25 |
- |
9-139403394-GCC-TCA |
NOTCH1 |
c.3097_3099delGGCinsTGA |
p.G1033* |
Nonsense |
19/34 |
- |
8-32599551-AGA-TGT |
NRG1 |
c.658_660delAGAinsTGT |
p.R220C |
Missense |
7/12 |
- |
17-37627532-T-A |
CDK12 |
c.1447T>A |
p.L483M |
Missense |
2/14 |
- |
19-10463759-G-T |
TYK2 |
c.3043C>A |
p.H1015N |
Missense |
22/25 |
- |
5-149509464-T-A |
PDGFRB |
c.1435A>T |
p.N479Y |
Missense |
10/23 |
- |
5-149499610-G-A |
PDGFRB |
c.2663C>T |
p.S888F |
Missense |
19/23 |
- |
5-149497221-C-A |
PDGFRB |
c.3097G>T |
p.A1033S |
Missense |
22/23 |
- |
5-149513212-A-T |
PDGFRB |
c.871T>A |
p.C291S |
Missense |
6/23 |
- |
16-3860727-TC-GT |
CREBBP |
c.851_852delGAinsAC |
p.G284D |
Missense |
3/31 |
- |
7-151927330-CT-TA |
KMT2C |
c.2845_2846delAGinsTA |
p.S949Y |
Missense |
17/59 |
- |
11-69625357-G-T |
FGF3 |
c.436C>A |
p.Q146K |
Missense |
3/3 |
- |
11-69625098-G-T |
FGF3 |
c.695C>A |
p.S232Y |
Missense |
3/3 |
- |
12-49426896-GTGC-G |
KMT2D |
c.11589_11591delGCA |
p.Q3863del |
InFrameDeletion |
40/55 |
- |
12-57556673-G-C |
LRP1 |
c.2437G>C |
p.G813R |
Missense |
15/89 |
- |
10-123239409-G-A |
FGFR2 |
c.2428C>T |
p.P810S |
Missense |
18/18 |
- |
X-47040785-G-C |
RBM10 |
c.1420G>C |
p.D474H |
Missense |
13/24 |
- |
8-139180227-G-T |
FAM135B |
c.1169C>A |
p.P390Q |
Missense |
12/20 |
- |
10-50732610-C-A |
ERCC6 |
c.866G>T |
p.G289V |
Missense |
5/21 |
- |
10-84744859-C-A |
NRG3 |
c.1589C>A |
p.S530* |
Nonsense |
9/9 |
- |
22-41489055-C-T |
EP300 |
c.47C>T |
p.P16L |
Missense |
1/31 |
- |
19-17945402-G-T |
JAK3 |
c.2328C>A |
p.D776E |
Missense |
17/24 |
- |
12-49445232-G-A |
KMT2D |
c.2234C>T |
p.P745L |
Missense |
11/55 |
- |
X-53241049-C-A |
KDM5C |
c.1162G>T |
p.A388S |
Missense |
9/26 |
- |
12-49444773-G-A |
KMT2D |
c.2693C>T |
p.P898L |
Missense |
11/55 |
- |
X-53231139-T-A |
KDM5C |
c.1763A>T |
p.Q588L |
Missense |
13/26 |
- |
1-120493406-T-G |
NOTCH2 |
c.2420A>C |
p.Q807P |
Missense |
15/34 |
- |
10-123279680-CG-TT |
FGFR2 |
c.751_752delCGinsAA |
p.R251K |
Missense |
7/18 |
- |
2-212426675-T-A |
ERBB4 |
c.2440A>T |
p.N814Y |
Missense |
20/28 |
- |
16-3900312-C-A |
CREBBP |
c.784G>T |
p.G262* |
Nonsense |
2/31 |
- |
7-142655047-C-A |
KEL |
c.539G>T |
p.R180L |
Missense |
6/19 |
- |
22-21346032-G-T |
LZTR1 |
c.907G>T |
p.A303S |
Missense |
9/21 |
- |
16-3778547-C-A |
CREBBP |
c.6501G>T |
p.Q2167H |
Missense |
31/31 |
- |
10-43609030-C-A |
RET |
c.1786C>A |
p.P596T |
Missense |
10/20 |
- |
20-43955990-G-C |
SDC4 |
c.511C>G |
p.R171G |
Missense |
5/5 |
- |
18-42530347-C-G |
SETBP1 |
c.1042C>G |
p.P348A |
Missense |
4/6 |
- |
1-158582725-T-C |
SPTA1 |
c.7016A>G |
p.Y2339C |
Missense |
51/52 |
- |
X-123211817-A-G |
STAG2 |
c.2684A>G |
p.D895G |
Missense |
27/35 |
- |
16-23652457-G-A |
PALB2 |
c.22C>T |
p.P8S |
Missense |
1/13 |
- |
17-63554302-G-C |
AXIN2 |
c.437C>G |
p.S146C |
Missense |
2/11 |
- |
1-7700542-C-A |
CAMTA1 |
c.593C>A |
p.S198Y |
Missense |
7/23 |
- |
5-24537497-G-T |
CDH10 |
c.518C>A |
p.S173Y |
Missense |
3/12 |
- |
3-48627067-G-C |
COL7A1 |
c.2135C>G |
p.A712G |
Missense |
17/119 |
- |
5-11236878-C-A |
CTNND2 |
c.1686G>T |
p.Q562H |
Missense |
10/22 |
- |
13-73346015-T-A |
DIS3 |
c.1523A>T |
p.D508V |
Missense |
11/21 |
- |
X-37028800-C-T |
FAM47C |
c.2317C>T |
p.H773Y |
Missense |
1/1 |
- |
X-37027138-G-T |
FAM47C |
c.655G>T |
p.V219L |
Missense |
1/1 |
- |
5-180048726-G-C |
FLT4 |
c.1836C>G |
p.N612K |
Missense |
13/30 |
- |
6-114270369-C-A |
HDAC2 |
c.695G>T |
p.G232V |
Missense |
7/14 |
- |
7-26233300-C-G |
HNRNPA2B1 |
c.736G>C |
p.G246R |
Missense |
8/11 |
- |
7-151874299-C-T |
KMT2C |
c.8239G>A |
p.D2747N |
Missense |
38/59 |
- |
1-32741261-G-C |
LCK |
c.469G>C |
p.E157Q |
Missense |
6/13 |
- |
15-41991349-T-G |
MGA |
c.2180T>G |
p.L727R |
Missense |
5/24 |
- |
1-76356413-A-T |
MSH4 |
c.2259A>T |
p.K753N |
Missense |
17/20 |
- |
5-38955701-G-A |
RICTOR |
c.2605C>T |
p.Q869* |
Nonsense |
26/38 |
- |
1-205632093-C-A |
SLC45A3 |
c.826G>T |
p.V276L |
Missense |
3/5 |
- |
10-70404824-G-A |
TET1 |
c.2338G>A |
p.E780K |
Missense |
4/12 |
- |
12-124862882-C-A |
NCOR2 |
c.2068G>T |
p.A690S |
Missense |
20/49 |
- |
11-108186611-G-A |
ATM |
c.6068G>A |
p.G2023E |
Missense |
41/63 |
- |
X-63409806-C-T |
AMER1 |
c.3361G>A |
p.A1121T |
Missense |
2/2 |
- |
12-133219531-C-T |
POLE |
c.4603G>A |
p.G1535S |
Missense |
36/49 |
- |
3-187447397-G-C |
BCL6 |
c.796C>G |
p.P266A |
Missense |
5/10 |
- |
13-26959374-A-C |
CDK8 |
c.541A>C |
p.N181H |
Missense |
6/13 |
- |
1-76363698-C-G |
MSH4 |
c.2462C>G |
p.S821* |
Nonsense |
18/20 |
- |
5-67592046-A-G |
PIK3R1 |
c.1862A>G |
p.E621G |
Missense |
15/16 |
- |
2-55808776-A-G |
PPP4R3B |
c.1292T>C |
p.L431P |
Missense |
8/17 |
- |
21-36164661-A-G |
RUNX1 |
c.1214T>C |
p.L405P |
Missense |
9/9 |
- |
5-225669-G-T |
SDHA |
c.448G>T |
p.V150L |
Missense |
4/15 |
- |
8-37554901-C-G |
ZNF703 |
c.482C>G |
p.S161C |
Missense |
2/2 |
- |
17-63531757-G-T |
AXIN2 |
c.2224C>A |
p.L742M |
Missense |
9/11 |
- |
22-29446376-G-A |
ZNRF3 |
c.2207G>A |
p.G736E |
Missense |
8/9 |
- |
13-110438219-G-A |
IRS2 |
c.182C>T |
p.T61M |
Missense |
1/2 |
- |
16-23647463-G-C |
PALB2 |
c.404C>G |
p.P135R |
Missense |
4/13 |
- |
17-78319360-C-T |
RNF213 |
c.7225C>T |
p.R2409W |
Missense |
29/68 |
- |
2-234681071-G-A |
UGT1A1 |
c.1468G>A |
p.D490N |
Missense |
5/5 |
- |
5-23523463-A-T |
PRDM9 |
c.946A>T |
p.M316L |
Missense |
9/11 |
- |
21-44513330-C-T |
U2AF1 |
c.605G>A |
p.R202H |
Missense |
8/8 |
- |
X-14883336-A-T |
FANCB |
c.297T>A |
p.N99K |
Missense |
3/10 |
- |
2-141660704-C-A |
LRP1B |
c.3551G>T |
p.S1184I |
Missense |
23/91 |
- |
2-141474278-C-A |
LRP1B |
c.5866G>T |
p.E1956* |
Nonsense |
36/91 |
- |
6-116381131-G-C |
FRK |
c.344C>G |
p.P115R |
Missense |
1/8 |
- |
6-149997768-C-T |
LATS1 |
c.2699G>A |
p.R900H |
Missense |
6/8 |
- |
1-202302426-A-G |
UBE2T |
c.323T>C |
p.L108S |
Missense |
5/7 |
- |
16-23646821-T-G |
PALB2 |
c.1046A>C |
p.N349T |
Missense |
4/13 |
- |
19-10912992-C-T |
DNM2 |
c.1451C>T |
p.S484F |
Missense |
12/21 |
- |
12-49425664-T-C |
KMT2D |
c.12824A>G |
p.Q4275R |
Missense |
40/55 |
- |
9-139404390-A-C |
NOTCH1 |
c.2764T>G |
p.C922G |
Missense |
18/34 |
- |
7-42188037-C-G |
GLI3 |
c.155G>C |
p.R52T |
Missense |
3/15 |
- |
4-143130087-A-G |
INPP4B |
c.929T>C |
p.M310T |
Missense |
13/26 |
- |
4-143094901-T-C |
INPP4B |
c.1243A>G |
p.S415G |
Missense |
16/26 |
- |
7-42004731-T-C |
GLI3 |
c.3940A>G |
p.N1314D |
Missense |
15/15 |
- |
9-139417446-C-A |
NOTCH1 |
c.598G>T |
p.G200C |
Missense |
4/34 |
- |
5-180056747-C-T |
FLT4 |
c.765G>A |
p.W255* |
Nonsense |
6/30 |
- |
9-139390766-GGG-TTA |
NOTCH1 |
c.7423_7425delCCCinsTAA |
p.P2475* |
Nonsense |
34/34 |
- |
9-139392007-C-A |
NOTCH1 |
c.6184G>T |
p.E2062* |
Nonsense |
34/34 |
- |
10-8097853-C-A |
GATA3 |
c.235C>A |
p.H79N |
Missense |
2/6 |
- |
10-84718751-G-T |
NRG3 |
c.1204G>T |
p.G402C |
Missense |
6/9 |
- |
10-84738875-G-T |
NRG3 |
c.1582G>T |
p.G528W |
Missense |
8/9 |
- |
10-84118519-G-C |
NRG3 |
c.848G>C |
p.R283P |
Missense |
2/9 |
- |
2-141460009-G-T |
LRP1B |
c.6137C>A |
p.S2046Y |
Missense |
38/91 |
- |
16-23646565-A-T |
PALB2 |
c.1302T>A |
p.D434E |
Missense |
4/13 |
- |
4-55153666-G-A |
PDGFRA |
c.2632G>A |
p.V878I |
Missense |
19/23 |
- |
14-68292278-C-T |
RAD51B |
c.182C>T |
p.A61V |
Missense |
3/11 |
- |
1-155874203-C-T |
RIT1 |
c.328G>A |
p.E110K |
Missense |
5/6 |
- |
7-101870899-C-G |
CUX1 |
c.3383C>G |
p.T1128S |
Missense |
21/24 |
- |
5-38511972-T-A |
LIFR |
c.656A>T |
p.E219V |
Missense |
6/20 |
- |
6-30680806-C-T |
MDC1 |
c.913G>A |
p.D305N |
Missense |
5/15 |
- |
6-30680838-G-A |
MDC1 |
c.881C>T |
p.P294L |
Missense |
5/15 |
- |
1-11199643-C-G |
MTOR |
c.4945G>C |
p.D1649H |
Missense |
35/58 |
- |
16-23649272-C-G |
PALB2 |
c.110G>C |
p.R37P |
Missense |
3/13 |
- |
4-41748126-C-A |
PHOX2B |
c.643G>T |
p.G215C |
Missense |
3/3 |
- |
15-89876714-C-A |
POLG |
c.272G>T |
p.G91V |
Missense |
2/23 |
- |
4-39303945-C-A |
RFC1 |
c.2488G>T |
p.D830Y |
Missense |
19/25 |
- |
17-56435723-G-A |
RNF43 |
c.1414C>T |
p.H472Y |
Missense |
9/10 |
- |
12-111856316-G-A |
SH2B3 |
c.367G>A |
p.E123K |
Missense |
2/8 |
- |
10-70446125-A-G |
TET1 |
c.5065A>G |
p.T1689A |
Missense |
11/12 |
- |
11-114118018-G-T |
ZBTB16 |
c.1723G>T |
p.E575* |
Nonsense |
6/7 |
- |
12-6711147-CTCC-A |
CHD4 |
c.414_417delinsT |
p.E138_E139delinsD |
MultiAAMissense |
4/40 |
- |
10-70332496-T-G |
TET1 |
c.401T>G |
p.L134* |
Nonsense |
2/12 |
- |
20-52198485-G-A |
ZNF217 |
c.881C>T |
p.T294I |
Missense |
2/6 |
- |
X-47429381-G-C |
ARAF |
c.1509G>C |
p.M503I |
Missense |
14/16 |
- |
19-11169036-A-G |
SMARCA4 |
c.4530A>G |
p.I1510M |
Missense |
31/35 |
- |
15-93496744-A-T |
CHD2 |
c.1660A>T |
p.I554F |
Missense |
14/39 |
- |
2-212293169-T-A |
ERBB4 |
c.2683A>T |
p.R895W |
Missense |
22/28 |
- |
6-32178654-A-T |
NOTCH4 |
c.2740T>A |
p.Y914N |
Missense |
18/30 |
- |
16-81954854-A-C |
PLCG2 |
c.2287A>C |
p.S763R |
Missense |
21/33 |
- |
3-48461153-C-A |
PLXNB1 |
c.2542G>T |
p.E848* |
Nonsense |
11/38 |
- |
7-128845484-C-A |
SMO |
c.781C>A |
p.R261S |
Missense |
4/12 |
- |
1-158609732-C-A |
SPTA1 |
c.4803G>T |
p.K1601N |
Missense |
34/52 |
- |
19-1625692-C-A |
TCF3 |
c.382G>T |
p.G128C |
Missense |
7/19 |
- |
15-91358420-A-G |
BLM |
c.4165A>G |
p.T1389A |
Missense |
22/22 |
- |
16-65016047-G-A |
CDH11 |
c.1157C>T |
p.P386L |
Missense |
8/13 |
- |
20-52193049-G-C |
ZNF217 |
c.2254C>G |
p.R752G |
Missense |
4/6 |
- |
7-50358659-T-C |
IKZF1 |
c.2T>C |
p.M1? |
Missense |
2/8 |
- |
X-47429381-G-A |
ARAF |
c.1509G>A |
p.M503I |
Missense |
14/16 |
- |
3-48607342-G-A |
COL7A1 |
c.7492C>T |
p.P2498S |
Missense |
100/119 |
- |
7-86468735-G-T |
GRM3 |
c.1905G>T |
p.K635N |
Missense |
4/6 |
- |
2-225371637-C-A |
CUL3 |
c.967G>T |
p.E323* |
Nonsense |
7/16 |
- |
18-45371774-T-C |
SMAD2 |
c.1217A>G |
p.Y406C |
Missense |
10/11 |
- |
1-162748394-G-C |
DDR2 |
c.2308G>C |
p.V770L |
Missense |
17/18 |
- |
1-162748394-G-T |
DDR2 |
c.2308G>T |
p.V770L |
Missense |
17/18 |
- |
18-45423039-C-A |
SMAD2 |
c.89G>T |
p.G30V |
Missense |
2/11 |
- |
17-12011167-G-T |
MAP2K4 |
c.574G>T |
p.V192L |
Missense |
5/11 |
- |
1-162729641-A-T |
DDR2 |
c.727A>T |
p.T243S |
Missense |
8/18 |
- |
X-123220540-G-T |
STAG2 |
c.3197G>T |
p.R1066L |
Missense |
30/35 |
- |
12-4553305-G-T |
FGF6 |
c.444C>A |
p.Y148* |
Nonsense |
2/3 |
- |
7-77756609-G-T |
MAGI2 |
c.3328C>A |
p.P1110T |
Missense |
19/22 |
- |
4-110932446-T-A |
EGF |
c.3459T>A |
p.D1153E |
Missense |
24/24 |
- |
12-4553336-A-C |
FGF6 |
c.413T>G |
p.F138C |
Missense |
2/3 |
- |
7-77824343-G-T |
MAGI2 |
c.2117C>A |
p.T706K |
Missense |
12/22 |
- |
17-40491385-C-A |
STAT3 |
c.415G>T |
p.E139* |
Nonsense |
5/24 |
- |
17-40490753-T-A |
STAT3 |
c.546A>T |
p.Q182H |
Missense |
6/24 |
- |
7-77764475-C-T |
MAGI2 |
c.2894G>A |
p.R965H |
Missense |
17/22 |
- |
5-44305164-C-A |
FGF10 |
c.560G>T |
p.R187M |
Missense |
3/3 |
- |
9-27158068-G-A |
TEK |
c.292G>A |
p.G98S |
Missense |
2/23 |
- |
8-56922564-G-A |
LYN |
c.1434G>A |
p.M478I |
Missense |
13/13 |
- |
3-138665311-A-C |
FOXL2 |
c.254T>G |
p.I85S |
Missense |
1/1 |
- |
3-138665021-C-A |
FOXL2 |
c.544G>T |
p.G182W |
Missense |
1/1 |
- |
6-35420392-G-C |
FANCE |
c.70G>C |
p.A24P |
Missense |
1/10 |
- |
18-19751266-C-T |
GATA6 |
c.161C>T |
p.P54L |
Missense |
2/7 |
- |
18-19751928-G-T |
GATA6 |
c.823G>T |
p.A275S |
Missense |
2/7 |
- |
9-101908791-T-G |
TGFBR1 |
c.1155T>G |
p.D385E |
Missense |
7/9 |
- |
9-101908791-T-A |
TGFBR1 |
c.1155T>A |
p.D385E |
Missense |
7/9 |
- |
1-43806095-G-C |
MPL |
c.891G>C |
p.K297N |
Missense |
6/12 |
- |
1-32745537-G-C |
LCK |
c.1137G>C |
p.K379N |
Missense |
11/13 |
- |
2-109365402-G-T |
RANBP2 |
c.1090G>T |
p.G364C |
Missense |
9/29 |
- |
2-109381431-A-G |
RANBP2 |
c.4436A>G |
p.K1479R |
Missense |
20/29 |
- |
1-92944298-C-G |
GFI1 |
c.937G>C |
p.D313H |
Missense |
6/7 |
- |
14-50904199-C-G |
MAP4K5 |
c.1877G>C |
p.C626S |
Missense |
26/33 |
- |
X-47429381-G-T |
ARAF |
c.1509G>T |
p.M503I |
Missense |
14/16 |
- |
16-72822008-TTGCTGCTGCTGCTGCTGTAGTTGCCGC-T |
ZFHX3 |
c.10140_10166del27 |
p.R3381_Q3389del |
InFrameDeletion |
10/10 |
- |
5-176636733-G-A |
NSD1 |
c.1333G>A |
p.G445S |
Missense |
5/23 |
- |
9-101910019-G-C |
TGFBR1 |
c.1339G>C |
p.E447Q |
Missense |
8/9 |
- |
X-37029167-C-A |
FAM47C |
c.2684C>A |
p.S895* |
Nonsense |
1/1 |
- |
16-14038647-AG-CA |
ERCC4 |
c.1972_1973delAGinsCA |
p.R658Q |
Missense |
10/11 |
- |
7-50367270-A-T |
IKZF1 |
c.77A>T |
p.E26V |
Missense |
3/8 |
- |
13-43148645-A-G |
TNFSF11 |
c.206A>G |
p.Y69C |
Missense |
1/5 |
- |
12-394642-C-A |
KDM5A |
c.5053G>T |
p.D1685Y |
Missense |
28/28 |
- |
12-432880-C-A |
KDM5A |
c.2036G>T |
p.C679F |
Missense |
15/28 |
- |
14-35873801-C-G |
NFKBIA |
c.50G>C |
p.R17P |
Missense |
1/6 |
- |
8-41838393-C-A |
KAT6A |
c.878G>T |
p.C293F |
Missense |
5/17 |
- |
17-38561111-C-T |
TOP2A |
c.1978G>A |
p.D660N |
Missense |
17/35 |
- |
20-52198484-GG-CA |
ZNF217 |
c.881_882delCCinsTG |
p.T294M |
Missense |
2/6 |
- |
5-176638075-C-G |
NSD1 |
c.2675C>G |
p.S892C |
Missense |
5/23 |
- |
15-88680728-G-A |
NTRK3 |
c.529C>T |
p.Q177* |
Nonsense |
7/20 |
- |
5-176721514-C-T |
NSD1 |
c.7145C>T |
p.T2382I |
Missense |
23/23 |
- |
1-243809299-G-C |
AKT3 |
c.325C>G |
p.L109V |
Missense |
5/14 |
- |
3-134670227-T-G |
EPHB1 |
c.138T>G |
p.S46R |
Missense |
3/16 |
- |
3-134670227-T-A |
EPHB1 |
c.138T>A |
p.S46R |
Missense |
3/16 |
- |
3-134670225-A-C |
EPHB1 |
c.136A>C |
p.S46R |
Missense |
3/16 |
- |
11-2156612-G-C |
IGF2 |
c.142C>G |
p.R48G |
Missense |
2/4 |
- |
X-63410306-C-A |
AMER1 |
c.2861G>T |
p.G954V |
Missense |
2/2 |
- |
X-63410076-C-T |
AMER1 |
c.3091G>A |
p.G1031S |
Missense |
2/2 |
- |
16-360032-G-T |
AXIN1 |
c.1057C>A |
p.R353S |
Missense |
4/11 |
- |
13-25073489-G-T |
PARP4 |
c.427C>A |
p.P143T |
Missense |
5/34 |
- |
X-47422679-G-C |
ARAF |
c.151G>C |
p.V51L |
Missense |
3/16 |
- |
X-47422679-G-T |
ARAF |
c.151G>T |
p.V51L |
Missense |
3/16 |
- |
15-93557956-G-T |
CHD2 |
c.4723G>T |
p.G1575C |
Missense |
37/39 |
- |
12-6709561-C-A |
CHD4 |
c.1064G>T |
p.G355V |
Missense |
9/40 |
- |
2-42556052-A-T |
EML4 |
c.2368A>T |
p.T790S |
Missense |
22/23 |
- |
12-6711562-T-A |
CHD4 |
c.202A>T |
p.S68C |
Missense |
3/40 |
- |
9-27172646-A-C |
TEK |
c.661A>C |
p.N221H |
Missense |
5/23 |
- |
3-121215679-G-C |
POLQ |
c.2254C>G |
p.Q752E |
Missense |
14/30 |
- |
1-36939216-C-G |
CSF3R |
c.493G>C |
p.G165R |
Missense |
6/17 |
- |
9-133730435-C-A |
ABL1 |
c.501C>A |
p.Y167* |
Nonsense |
3/11 |
- |
9-133730435-C-G |
ABL1 |
c.501C>G |
p.Y167* |
Nonsense |
3/11 |
- |
17-78857240-G-T |
RPTOR |
c.1606G>T |
p.A536S |
Missense |
15/34 |
- |
3-121192216-C-G |
POLQ |
c.6524G>C |
p.R2175T |
Missense |
21/30 |
- |
17-78933991-G-T |
RPTOR |
c.3591G>T |
p.M1197I |
Missense |
30/34 |
- |
1-205589173-G-A |
ELK4 |
c.1001C>T |
p.T334M |
Missense |
3/5 |
- |
17-78899172-TGCGGACGAC-T |
RPTOR |
c.2820_2828delCGCGGACGA |
p.D942_A944del |
InFrameDeletion |
24/34 |
- |
1-16464859-G-A |
EPHA2 |
c.890C>T |
p.T297M |
Missense |
4/17 |
- |
3-134977916-A-T |
EPHB1 |
c.2909A>T |
p.H970L |
Missense |
16/16 |
- |
19-33792266-T-A |
CEBPA |
c.1055A>T |
p.K352M |
Missense |
1/1 |
- |
20-62178789-C-A |
SRMS |
c.28G>T |
p.A10S |
Missense |
1/8 |
- |
3-134884843-C-T |
EPHB1 |
c.1619C>T |
p.P540L |
Missense |
8/16 |
- |
19-18272259-G-A |
PIK3R2 |
c.769G>A |
p.A257T |
Missense |
6/16 |
- |
8-92972640-G-A |
RUNX1T1 |
c.1534C>T |
p.H512Y |
Missense |
11/11 |
- |
4-110862151-T-G |
EGF |
c.177T>G |
p.I59M |
Missense |
2/24 |
- |
8-56854429-TA-GC |
LYN |
c.11_12delTAinsGC |
p.I4S |
Missense |
2/13 |
- |
20-52192425-C-A |
ZNF217 |
c.2878G>T |
p.V960L |
Missense |
4/6 |
- |
8-92972597-G-T |
RUNX1T1 |
c.1577C>A |
p.T526K |
Missense |
11/11 |
- |
15-88472559-C-A |
NTRK3 |
c.1996G>T |
p.G666C |
Missense |
17/20 |
- |
5-11385314-C-T |
CTNND2 |
c.640G>A |
p.A214T |
Missense |
7/22 |
- |
3-138456587-C-T |
PIK3CB |
c.763G>A |
p.E255K |
Missense |
6/24 |
- |
X-47430845-C-A |
ARAF |
c.1810C>A |
p.L604I |
Missense |
16/16 |
- |
3-138417901-C-T |
PIK3CB |
c.1618G>A |
p.E540K |
Missense |
13/24 |
- |
20-31022728-G-T |
ASXL1 |
c.2213G>T |
p.G738V |
Missense |
13/13 |
- |
12-56482362-G-T |
ERBB3 |
c.910G>T |
p.A304S |
Missense |
8/28 |
- |
1-193202215-GC-AG |
CDC73 |
c.1247_1248delGCinsAG |
p.G416E |
Missense |
14/17 |
- |
16-396594-G-C |
AXIN1 |
c.432C>G |
p.I144M |
Missense |
2/11 |
- |
15-89876589-C-A |
POLG |
c.397G>T |
p.D133Y |
Missense |
2/23 |
- |
16-396151-A-T |
AXIN1 |
c.875T>A |
p.F292Y |
Missense |
2/11 |
- |
12-56487933-A-G |
ERBB3 |
c.1664A>G |
p.E555G |
Missense |
14/28 |
- |
19-33793197-G-C |
CEBPA |
c.124C>G |
p.P42A |
Missense |
1/1 |
- |
17-62007235-C-G |
CD79B |
c.444G>C |
p.L148F |
Missense |
4/6 |
- |
16-64981840-C-G |
CDH11 |
c.2057G>C |
p.G686A |
Missense |
13/13 |
- |
8-95403872-A-G |
RAD54B |
c.1774T>C |
p.C592R |
Missense |
10/15 |
- |
5-38963118-A-C |
RICTOR |
c.1426T>G |
p.L476V |
Missense |
17/38 |
- |
1-158604344-C-G |
SPTA1 |
c.5554G>C |
p.A1852P |
Missense |
39/52 |
- |
16-2131661-A-G |
TSC2 |
c.3676A>G |
p.M1226V |
Missense |
31/42 |
- |
2-216986937-T-C |
XRCC5 |
c.644T>C |
p.L215S |
Missense |
6/21 |
- |
13-110438220-T-C |
IRS2 |
c.181A>G |
p.T61A |
Missense |
1/2 |
- |
12-133240633-A-G |
POLE |
c.2663T>C |
p.V888A |
Missense |
23/49 |
- |
2-48027925-T-A |
MSH6 |
c.2803T>A |
p.S935T |
Missense |
4/10 |
- |
5-224538-G-T |
SDHA |
c.214G>T |
p.A72S |
Missense |
3/15 |
- |
9-433928-G-C |
DOCK8 |
c.4839G>C |
p.M1613I |
Missense |
38/48 |
- |
9-5054787-C-G |
JAK2 |
c.839C>G |
p.S280* |
Nonsense |
7/25 |
- |
2-48027797-C-G |
MSH6 |
c.2675C>G |
p.S892C |
Missense |
4/10 |
- |
16-23641322-C-T |
PALB2 |
c.2153G>A |
p.R718K |
Missense |
5/13 |
- |
11-74345631-T-C |
POLD3 |
c.1010T>C |
p.F337S |
Missense |
10/12 |
- |
13-34410346-A-G |
RFC3 |
c.985A>G |
p.I329V |
Missense |
9/9 |
- |
22-38948706-C-T |
DMC1 |
c.386G>A |
p.R129H |
Missense |
7/14 |
- |
4-187629175-G-T |
FAT1 |
c.1807C>A |
p.Q603K |
Missense |
2/27 |
- |
16-10273855-C-G |
GRIN2A |
c.414G>C |
p.K138N |
Missense |
2/13 |
- |
2-140990810-C-T |
LRP1B |
c.13745G>A |
p.R4582K |
Missense |
91/91 |
- |
7-40174012-G-A |
MPLKIP |
c.155C>T |
p.P52L |
Missense |
1/2 |
- |
2-223066810-C-A |
PAX3 |
c.1273G>T |
p.V425L |
Missense |
8/9 |
- |
13-66878831-G-T |
PCDH9 |
c.3670C>A |
p.Q1224K |
Missense |
5/5 |
- |
3-189608666-A-T |
TP63 |
c.1741A>T |
p.M581L |
Missense |
13/14 |
- |
5-98208259-C-A |
CHD1 |
c.3572G>T |
p.G1191V |
Missense |
27/36 |
- |
3-89259367-G-C |
EPHA3 |
c.511G>C |
p.V171L |
Missense |
3/17 |
- |
6-94120474-T-A |
EPHA7 |
c.577A>T |
p.I193L |
Missense |
3/17 |
- |
4-55968146-C-A |
KDR |
c.2184G>T |
p.R728S |
Missense |
15/30 |
- |
7-128852118-G-T |
SMO |
c.2190G>T |
p.W730C |
Missense |
12/12 |
- |
16-23625372-C-A |
PALB2 |
c.3154G>T |
p.D1052Y |
Missense |
11/13 |
- |
5-54528344-T-A |
CCNO |
c.412A>T |
p.S138C |
Missense |
2/3 |
- |
19-42752703-C-A |
ERF |
c.1561G>T |
p.A521S |
Missense |
4/4 |
- |
3-37070417-C-T |
MLH1 |
c.1552C>T |
p.H518Y |
Missense |
13/19 |
- |
1-11316096-T-A |
MTOR |
c.658A>T |
p.T220S |
Missense |
5/58 |
- |
19-52714695-C-G |
PPP2R1A |
c.453C>G |
p.F151L |
Missense |
4/15 |
- |
14-94696973-C-T |
PPP4R4 |
c.344C>T |
p.S115L |
Missense |
4/25 |
- |
18-42643497-C-A |
SETBP1 |
c.4625C>A |
p.P1542H |
Missense |
6/6 |
- |
12-54575953-G-A |
SMUG1 |
c.740C>T |
p.A247V |
Missense |
4/4 |
- |
2-39213375-T-C |
SOS1 |
c.3592A>G |
p.I1198V |
Missense |
23/23 |
- |
14-99641773-G-A |
BCL11B |
c.1400C>T |
p.A467V |
Missense |
4/4 |
- |
8-119123266-T-C |
EXT1 |
c.20A>G |
p.Y7C |
Missense |
1/11 |
- |
1-3322159-C-T |
PRDM16 |
c.1133C>T |
p.S378F |
Missense |
8/17 |
- |
9-35074426-T-C |
FANCG |
c.1702A>G |
p.T568A |
Missense |
13/14 |
- |
3-37089047-T-C |
MLH1 |
c.1769T>C |
p.L590S |
Missense |
16/19 |
- |
3-138426063-C-A |
PIK3CB |
c.1468G>T |
p.A490S |
Missense |
11/24 |
- |
14-94712865-A-G |
PPP4R4 |
c.1600A>G |
p.M534V |
Missense |
14/25 |
- |
20-62331957-G-A |
ARFRP1 |
c.515C>T |
p.T172I |
Missense |
7/8 |
- |
1-150551451-G-A |
MCL1 |
c.556C>T |
p.L186F |
Missense |
1/3 |
- |
14-81610038-T-A |
TSHR |
c.1636T>A |
p.W546R |
Missense |
10/10 |
- |
17-8110528-G-T |
AURKB |
c.364C>A |
p.L122M |
Missense |
5/9 |
- |
20-30309907-C-A |
BCL2L1 |
c.115G>T |
p.E39* |
Nonsense |
2/3 |
- |
16-88958680-C-T |
CBFA2T3 |
c.593G>A |
p.R198H |
Missense |
4/12 |
- |
1-59248705-G-A |
JUN |
c.38C>T |
p.A13V |
Missense |
1/1 |
- |
6-106554268-G-A |
PRDM1 |
c.1796G>A |
p.G599E |
Missense |
6/7 |
- |
5-98239525-G-T |
CHD1 |
c.343C>A |
p.Q115K |
Missense |
4/36 |
- |
2-191897798-C-G |
STAT4 |
c.1930G>C |
p.D644H |
Missense |
21/24 |
- |
6-401745-G-T |
IRF4 |
c.1067G>T |
p.C356F |
Missense |
7/9 |
- |
3-3215901-G-T |
CRBN |
c.219C>A |
p.H73Q |
Missense |
3/11 |
- |
3-3215901-G-C |
CRBN |
c.219C>G |
p.H73Q |
Missense |
3/11 |
- |
6-106536196-G-C |
PRDM1 |
c.163G>C |
p.E55Q |
Missense |
2/7 |
- |
15-75091248-G-A |
CSK |
c.211G>A |
p.V71M |
Missense |
4/13 |
- |
5-98234380-C-G |
CHD1 |
c.1174G>C |
p.E392Q |
Missense |
9/36 |
- |
15-90631701-C-A |
IDH2 |
c.568G>T |
p.G190C |
Missense |
5/11 |
- |
14-35255422-T-C |
BAZ1A |
c.1516A>G |
p.T506A |
Missense |
13/27 |
- |
2-191900909-C-A |
STAT4 |
c.1551G>T |
p.M517I |
Missense |
17/24 |
- |
10-98088561-A-G |
DNTT |
c.1087A>G |
p.K363E |
Missense |
8/11 |
- |
14-35255409-T-C |
BAZ1A |
c.1529A>G |
p.D510G |
Missense |
13/27 |
- |
5-86670020-T-C |
RASA1 |
c.1817T>C |
p.L606P |
Missense |
14/25 |
- |
7-148514464-T-A |
EZH2 |
c.1260A>T |
p.Q420H |
Missense |
11/20 |
- |
7-148514464-T-G |
EZH2 |
c.1260A>C |
p.Q420H |
Missense |
11/20 |
- |
5-23526501-A-G |
PRDM9 |
c.1304A>G |
p.Q435R |
Missense |
11/11 |
- |
16-81946205-G-T |
PLCG2 |
c.1938G>T |
p.W646C |
Missense |
19/33 |
- |
14-81610038-T-C |
TSHR |
c.1636T>C |
p.W546R |
Missense |
10/10 |
- |
14-81610165-C-A |
TSHR |
c.1763C>A |
p.T588K |
Missense |
10/10 |
- |
17-79508379-C-A |
FAAP100 |
c.2470G>T |
p.D824Y |
Missense |
8/9 |
- |
1-201982130-C-G |
ELF3 |
c.654C>G |
p.D218E |
Missense |
6/9 |
- |
1-201982130-C-A |
ELF3 |
c.654C>A |
p.D218E |
Missense |
6/9 |
- |
1-78432421-G-A |
FUBP1 |
c.430C>T |
p.P144S |
Missense |
7/20 |
- |
5-161118980-G-T |
GABRA6 |
c.860G>T |
p.S287I |
Missense |
8/9 |
- |
9-93606569-A-G |
SYK |
c.389A>G |
p.E130G |
Missense |
2/14 |
- |
7-141408649-G-C |
WEE2 |
c.91G>C |
p.E31Q |
Missense |
1/12 |
- |
22-23653895-CC-AA |
BCR |
c.3194_3195delCCinsAA |
p.S1065* |
Nonsense |
19/23 |
- |
10-90773957-G-C |
FAS |
c.758G>C |
p.G253A |
Missense |
9/9 |
- |
16-81925084-C-T |
PLCG2 |
c.875C>T |
p.T292M |
Missense |
11/33 |
- |
15-40895140-T-G |
KNL1 |
c.11T>G |
p.V4G |
Missense |
2/26 |
- |
2-215645324-T-C |
BARD1 |
c.1274A>G |
p.N425S |
Missense |
4/11 |
- |
16-23641319-G-C |
PALB2 |
c.2156C>G |
p.P719R |
Missense |
5/13 |
- |
16-3640457-G-A |
SLX4 |
c.3182C>T |
p.S1061F |
Missense |
12/15 |
- |
4-84383830-G-A |
ABRAXAS1 |
c.1022C>T |
p.P341L |
Missense |
9/9 |
- |
3-3215758-G-A |
CRBN |
c.362C>T |
p.A121V |
Missense |
3/11 |
- |
7-148514321-C-A |
EZH2 |
c.1403G>T |
p.C468F |
Missense |
11/20 |
- |
X-37029041-G-T |
FAM47C |
c.2558G>T |
p.R853L |
Missense |
1/1 |
- |
X-37028654-C-G |
FAM47C |
c.2171C>G |
p.S724C |
Missense |
1/1 |
- |
16-2096337-C-T |
NTHL1 |
c.170G>A |
p.R49H |
Missense |
2/6 |
- |
4-55133743-C-A |
PDGFRA |
c.956C>A |
p.P319H |
Missense |
7/23 |
- |
10-70405890-A-G |
TET1 |
c.3404A>G |
p.H1135R |
Missense |
4/12 |
- |
12-133225642-T-A |
POLE |
c.4022A>T |
p.Q1341L |
Missense |
32/49 |
- |
22-42526618-T-A |
CYP2D6 |
c.176A>T |
p.D59V |
Missense |
1/9 |
- |
X-129200787-G-C |
ELF4 |
c.1901C>G |
p.S634C |
Missense |
9/9 |
- |
6-152129231-T-C |
ESR1 |
c.184T>C |
p.F62L |
Missense |
1/8 |
- |
8-139155277-T-A |
FAM135B |
c.3616A>T |
p.N1206Y |
Missense |
16/20 |
- |
12-475173-C-A |
KDM5A |
c.464G>T |
p.G155V |
Missense |
4/28 |
- |
1-120460307-C-T |
NOTCH2 |
c.6008G>A |
p.R2003Q |
Missense |
33/34 |
- |
19-15292474-G-T |
NOTCH3 |
c.2705C>A |
p.T902N |
Missense |
17/33 |
- |
19-50919942-A-C |
POLD1 |
c.3029A>C |
p.N1010T |
Missense |
24/27 |
- |
3-142281419-T-G |
ATR |
c.825A>C |
p.E275D |
Missense |
4/47 |
- |
4-55133898-C-T |
PDGFRA |
c.1111C>T |
p.Q371* |
Nonsense |
7/23 |
- |
X-14883457-T-A |
FANCB |
c.176A>T |
p.Q59L |
Missense |
3/10 |
- |
4-25664129-C-G |
SLC34A2 |
c.7C>G |
p.P3A |
Missense |
2/13 |
- |
20-39741443-T-C |
TOP1 |
c.1330T>C |
p.Y444H |
Missense |
14/21 |
- |
6-151687910-C-A |
ZBTB2 |
c.291G>T |
p.Q97H |
Missense |
3/3 |
- |
6-151687910-C-G |
ZBTB2 |
c.291G>C |
p.Q97H |
Missense |
3/3 |
- |
6-163836351-G-T |
QKI |
c.126G>T |
p.E42D |
Missense |
1/8 |
- |
2-96919823-G-C |
TMEM127 |
c.440C>G |
p.S147C |
Missense |
4/4 |
- |
6-151687300-C-G |
ZBTB2 |
c.901G>C |
p.D301H |
Missense |
3/3 |
- |
16-56873485-G-C |
NUP93 |
c.2189G>C |
p.R730T |
Missense |
20/22 |
- |
2-11332409-C-A |
ROCK2 |
c.4028G>T |
p.R1343L |
Missense |
32/33 |
- |
15-50751262-T-G |
USP8 |
c.401T>G |
p.L134R |
Missense |
5/20 |
- |
9-137321037-G-C |
RXRA |
c.994G>C |
p.V332L |
Missense |
7/10 |
- |
1-9775978-G-T |
PIK3CD |
c.442G>T |
p.E148* |
Nonsense |
5/24 |
- |
21-44840137-C-A |
SIK1 |
c.949G>T |
p.V317L |
Missense |
8/14 |
- |
15-67457402-C-T |
SMAD3 |
c.376C>T |
p.H126Y |
Missense |
2/9 |
- |
1-204506566-C-G |
MDM4 |
c.352C>G |
p.Q118E |
Missense |
6/11 |
- |
17-47684667-C-G |
SPOP |
c.782G>C |
p.G261A |
Missense |
8/10 |
- |
5-98195684-C-G |
CHD1 |
c.4516G>C |
p.E1506Q |
Missense |
33/36 |
- |
3-48604566-C-T |
COL7A1 |
c.8104G>A |
p.E2702K |
Missense |
110/119 |
- |
17-37873719-C-G |
ERBB2 |
c.1884C>G |
p.I628M |
Missense |
15/27 |
- |
3-148766779-C-G |
HLTF |
c.1627G>C |
p.D543H |
Missense |
16/25 |
- |
17-73658729-C-G |
RECQL5 |
c.601G>C |
p.E201Q |
Missense |
4/20 |
- |
3-133371473-C-A |
TOPBP1 |
c.923G>T |
p.S308I |
Missense |
8/28 |
- |
5-112176970-A-C |
APC |
c.5679A>C |
p.K1893N |
Missense |
16/16 |
- |
4-41748010-C-CGCG |
PHOX2B |
c.758_759insCGC |
p.A260dup |
InFrameInsertion |
3/3 |
- |
7-6414377-T-G |
RAC1 |
c.11T>G |
p.I4S |
Missense |
1/6 |
- |
16-23619272-G-A |
PALB2 |
c.3263C>T |
p.P1088L |
Missense |
12/13 |
- |
8-139278019-AA-GG |
FAM135B |
c.223_224delTTinsCC |
p.L75P |
Missense |
4/20 |
- |
2-141299518-CC-AG |
LRP1B |
c.7216_7217delGGinsCT |
p.G2406L |
Missense |
44/91 |
- |
9-87339236-G-C |
NTRK2 |
c.818G>C |
p.G273A |
Missense |
8/19 |
- |
16-23632710-G-C |
PALB2 |
c.3086C>G |
p.T1029S |
Missense |
10/13 |
- |
16-23632711-T-A |
PALB2 |
c.3085A>T |
p.T1029S |
Missense |
10/13 |
- |
9-35074183-C-A |
FANCG |
c.1791G>T |
p.L597F |
Missense |
14/14 |
- |
9-35074183-C-G |
FANCG |
c.1791G>C |
p.L597F |
Missense |
14/14 |
- |
2-141359206-C-G |
LRP1B |
c.6802G>C |
p.V2268L |
Missense |
42/91 |
- |
2-141359206-C-A |
LRP1B |
c.6802G>T |
p.V2268L |
Missense |
42/91 |
- |
9-139403421-C-G |
NOTCH1 |
c.3072G>C |
p.E1024D |
Missense |
19/34 |
- |
9-139403421-C-A |
NOTCH1 |
c.3072G>T |
p.E1024D |
Missense |
19/34 |
- |
16-23641769-T-A |
PALB2 |
c.1706A>T |
p.K569I |
Missense |
5/13 |
- |
16-23646653-G-A |
PALB2 |
c.1214C>T |
p.P405L |
Missense |
4/13 |
- |
6-18134039-A-C |
TPMT |
c.576T>G |
p.H192Q |
Missense |
7/9 |
- |
14-99641790-G-C |
BCL11B |
c.1383C>G |
p.D461E |
Missense |
4/4 |
- |
15-91293158-G-C |
BLM |
c.660G>C |
p.L220F |
Missense |
3/22 |
- |
19-30313507-G-T |
CCNE1 |
c.1107G>T |
p.L369F |
Missense |
11/12 |
- |
5-180046069-G-C |
FLT4 |
c.2802C>G |
p.N934K |
Missense |
20/30 |
- |
9-110068921-A-G |
RAD23B |
c.490A>G |
p.T164A |
Missense |
4/10 |
- |
17-17124862-T-C |
FLCN |
c.860A>G |
p.E287G |
Missense |
8/14 |
- |
5-112154742-C-G |
APC |
c.1013C>G |
p.S338C |
Missense |
10/16 |
- |
20-31019195-C-G |
ASXL1 |
c.790C>G |
p.L264V |
Missense |
9/13 |
- |
17-29556062-A-G |
NF1 |
c.2429A>G |
p.K810R |
Missense |
21/58 |
- |
16-88952418-C-T |
CBFA2T3 |
c.844G>A |
p.E282K |
Missense |
6/12 |
- |
11-32421503-T-A |
WT1 |
c.1089A>T |
p.R368S |
Missense |
6/10 |
- |
2-30143423-C-T |
ALK |
c.103G>A |
p.G35R |
Missense |
1/29 |
- |
22-21288380-C-G |
CRKL |
c.625C>G |
p.Q209E |
Missense |
2/3 |
- |
17-73659047-C-A |
RECQL5 |
c.283G>T |
p.V95L |
Missense |
4/20 |
- |
12-133218333-C-T |
POLE |
c.5278G>A |
p.V1760M |
Missense |
39/49 |
- |
10-84745348-C-T |
NRG3 |
c.2078C>T |
p.A693V |
Missense |
9/9 |
- |
12-109530489-C-T |
ALKBH2 |
c.103G>A |
p.E35K |
Missense |
2/4 |
- |
14-99641914-G-T |
BCL11B |
c.1259C>A |
p.P420Q |
Missense |
4/4 |
- |
5-24509755-T-G |
CDH10 |
c.1176A>C |
p.E392D |
Missense |
7/12 |
- |
5-158158150-G-C |
EBF1 |
c.1052C>G |
p.T351S |
Missense |
11/16 |
- |
3-134977930-C-G |
EPHB1 |
c.2923C>G |
p.Q975E |
Missense |
16/16 |
- |
1-241672010-G-T |
FH |
c.631C>A |
p.L211I |
Missense |
5/10 |
- |
9-101611241-C-G |
GALNT12 |
c.1613C>G |
p.S538C |
Missense |
10/10 |
- |
7-151860637-G-A |
KMT2C |
c.10025C>T |
p.A3342V |
Missense |
43/59 |
- |
1-120459022-G-A |
NOTCH2 |
c.6323C>T |
p.A2108V |
Missense |
34/34 |
- |
6-32164755-A-C |
NOTCH4 |
c.5147T>G |
p.L1716R |
Missense |
28/30 |
- |
15-88678477-G-C |
NTRK3 |
c.1059C>G |
p.Y353* |
Nonsense |
10/20 |
- |
2-109370294-A-T |
RANBP2 |
c.2069A>T |
p.K690M |
Missense |
15/29 |
- |
17-78305988-C-T |
RNF213 |
c.3700C>T |
p.Q1234* |
Nonsense |
21/68 |
- |
16-2107170-T-A |
TSC2 |
c.839T>A |
p.M280K |
Missense |
9/42 |
- |
11-2154854-C-A |
IGF2 |
c.199G>T |
p.V67F |
Missense |
3/4 |
- |
13-48955533-T-C |
RB1 |
c.1649T>C |
p.L550S |
Missense |
17/27 |
- |
16-23646387-T-A |
PALB2 |
c.1480A>T |
p.T494S |
Missense |
4/13 |
- |
8-41615628-C-T |
ANK1 |
c.55G>A |
p.A19T |
Missense |
2/43 |
- |
X-70340983-T-C |
MED12 |
c.716T>C |
p.L239P |
Missense |
5/45 |
- |
8-128752836-G-A |
MYC |
c.997G>A |
p.D333N |
Missense |
3/3 |
- |
2-141747214-C-A |
LRP1B |
c.2657G>T |
p.C886F |
Missense |
17/91 |
- |
5-79968150-G-T |
MSH3 |
c.880G>T |
p.V294L |
Missense |
5/24 |
- |
16-23646202-T-G |
PALB2 |
c.1665A>C |
p.K555N |
Missense |
4/13 |
- |
2-215617257-C-A |
BARD1 |
c.1591G>T |
p.V531F |
Missense |
7/11 |
- |
2-215610571-G-C |
BARD1 |
c.1685C>G |
p.T562S |
Missense |
8/11 |
- |
2-141299473-G-T |
LRP1B |
c.7262C>A |
p.S2421* |
Nonsense |
44/91 |
- |
16-89833611-T-C |
FANCA |
c.2539A>G |
p.K847E |
Missense |
27/43 |
- |
5-112177289-A-T |
APC |
c.5998A>T |
p.S2000C |
Missense |
16/16 |
- |
16-23625338-G-A |
PALB2 |
c.3188C>T |
p.A1063V |
Missense |
11/13 |
- |
19-11121162-C-G |
SMARCA4 |
c.2229C>G |
p.D743E |
Missense |
15/35 |
- |
1-11301690-G-C |
MTOR |
c.1461C>G |
p.S487R |
Missense |
10/58 |
- |
5-112179035-G-T |
APC |
c.7744G>T |
p.E2582* |
Nonsense |
16/16 |
- |
5-112176623-C-A |
APC |
c.5332C>A |
p.P1778T |
Missense |
16/16 |
- |
11-108115643-A-G |
ATM |
c.791A>G |
p.Y264C |
Missense |
7/63 |
- |
16-3832750-T-C |
CREBBP |
c.1508A>G |
p.Q503R |
Missense |
6/31 |
- |
2-29445399-A-C |
ALK |
c.3434T>G |
p.L1145R |
Missense |
21/29 |
- |
3-142217515-C-T |
ATR |
c.5482G>A |
p.A1828T |
Missense |
32/47 |
- |
16-23637581-T-A |
PALB2 |
c.2724A>T |
p.K908N |
Missense |
7/13 |
- |
4-99273682-G-T |
RAP1GDS1 |
c.291G>T |
p.L97= |
Synonymous |
4/15 |
- |
X-63412508-G-T |
AMER1 |
c.659C>A |
p.T220N |
Missense |
2/2 |
- |
14-99640744-T-C |
BCL11B |
c.2429A>G |
p.N810S |
Missense |
4/4 |
- |
X-39933644-T-C |
BCOR |
c.955A>G |
p.K319E |
Missense |
4/15 |
- |
7-2959221-C-A |
CARD11 |
c.2295G>T |
p.M765I |
Missense |
18/25 |
- |
11-47238458-A-G |
DDB2 |
c.314A>G |
p.Q105R |
Missense |
3/10 |
- |
11-108550233-G-T |
DDX10 |
c.794G>T |
p.R265L |
Missense |
6/18 |
- |
8-109215669-A-C |
EIF3E |
c.1125T>G |
p.I375M |
Missense |
11/13 |
- |
7-42007467-T-A |
GLI3 |
c.2158A>T |
p.I720F |
Missense |
14/15 |
- |
20-57485766-G-T |
GNAS |
c.1067G>T |
p.R356L |
Missense |
13/13 |
- |
11-128781947-G-T |
KCNJ5 |
c.779G>T |
p.G260V |
Missense |
2/3 |
- |
2-141777648-C-T |
LRP1B |
c.1813G>A |
p.A605T |
Missense |
12/91 |
- |
2-141299466-C-T |
LRP1B |
c.7269G>A |
p.W2423* |
Nonsense |
44/91 |
- |
1-150551597-C-T |
MCL1 |
c.410G>A |
p.R137Q |
Missense |
1/3 |
- |
1-11313970-T-A |
MTOR |
c.766A>T |
p.N256Y |
Missense |
6/58 |
- |
1-11308109-C-T |
MTOR |
c.883G>A |
p.V295I |
Missense |
7/58 |
- |
15-88483888-C-A |
NTRK3 |
c.1682G>T |
p.S561I |
Missense |
15/20 |
- |
15-88476311-G-T |
NTRK3 |
c.1821C>A |
p.C607* |
Nonsense |
16/20 |
- |
7-124503430-C-A |
POT1 |
c.520G>T |
p.V174L |
Missense |
8/19 |
- |
5-23526649-G-T |
PRDM9 |
c.1452G>T |
p.M484I |
Missense |
11/11 |
- |
9-8499744-C-G |
PTPRD |
c.2225G>C |
p.G742A |
Missense |
25/46 |
- |
10-43604668-G-T |
RET |
c.1253G>T |
p.R418L |
Missense |
6/20 |
- |
11-114027115-T-A |
ZBTB16 |
c.1325T>A |
p.L442Q |
Missense |
3/7 |
- |
3-142277595-T-C |
ATR |
c.1756A>G |
p.I586V |
Missense |
8/47 |
- |
9-98248051-G-T |
PTCH1 |
c.500C>A |
p.A167D |
Missense |
3/24 |
- |
5-24488084-C-G |
CDH10 |
c.2055G>C |
p.K685N |
Missense |
12/12 |
- |
7-101840577-G-T |
CUX1 |
c.1886G>T |
p.R629I |
Missense |
15/24 |
- |
15-31218038-C-T |
FAN1 |
c.2384C>T |
p.S795F |
Missense |
10/15 |
- |
16-3820740-CC-AA |
CREBBP |
c.2710_2711delGGinsTT |
p.G904F |
Missense |
14/31 |
- |
16-3900805-C-A |
CREBBP |
c.291G>T |
p.Q97H |
Missense |
2/31 |
- |
1-59248182-C-T |
JUN |
c.561G>A |
p.A187= |
Synonymous |
1/1 |
- |
1-59248182-C-G |
JUN |
c.561G>C |
p.A187= |
Synonymous |
1/1 |
- |
1-59248182-C-A |
JUN |
c.561G>T |
p.A187= |
Synonymous |
1/1 |
- |
5-112177334-G-A |
APC |
c.6043G>A |
p.E2015K |
Missense |
16/16 |
- |
1-65303712-G-T |
JAK1 |
c.3043C>A |
p.H1015N |
Missense |
22/25 |
- |
12-57550679-G-T |
LRP1 |
c.1537G>T |
p.G513C |
Missense |
10/89 |
- |
1-156841416-A-G |
NTRK1 |
c.719A>G |
p.K240R |
Missense |
7/17 |
- |
7-42007449-T-A |
GLI3 |
c.2176A>T |
p.S726C |
Missense |
14/15 |
- |
5-112162905-G-A |
APC |
c.1509G>A |
p.M503I |
Missense |
12/16 |
- |
16-23641769-T-C |
PALB2 |
c.1706A>G |
p.K569R |
Missense |
5/13 |
- |
9-101911584-G-A |
TGFBR1 |
c.1509G>A |
p.M503I |
Missense |
9/9 |
- |
2-141812700-C-A |
LRP1B |
c.1537G>T |
p.G513C |
Missense |
10/91 |
- |
1-158606447-T-A |
SPTA1 |
c.5294A>T |
p.H1765L |
Missense |
37/52 |
- |
4-20521021-A-T |
SLIT2 |
c.1075A>T |
p.K359* |
Nonsense |
12/37 |
- |
19-50912437-G-T |
POLD1 |
c.1951G>T |
p.V651L |
Missense |
16/27 |
- |
8-37691499-G-T |
ADGRA2 |
c.1461G>T |
p.M487I |
Missense |
11/19 |
- |
8-93026893-T-C |
RUNX1T1 |
c.271A>G |
p.R91G |
Missense |
3/11 |
- |
X-123184135-T-A |
STAG2 |
c.993T>A |
p.Y331* |
Nonsense |
11/35 |
- |
3-142231103-C-T |
ATR |
c.4851G>A |
p.M1617I |
Missense |
27/47 |
- |
16-23641522-TCC-CCA |
PALB2 |
c.1951_1953delGGAinsTGG |
p.G651W |
Missense |
5/13 |
- |
9-93641146-AGA-CAT |
SYK |
c.1492_1494delAGAinsCAT |
p.R498H |
Missense |
11/14 |
- |
16-68845705-C-G |
CDH1 |
c.951C>G |
p.F317L |
Missense |
7/16 |
- |
5-112175141-G-C |
APC |
c.3850G>C |
p.E1284Q |
Missense |
16/16 |
- |
1-156848999-G-T |
NTRK1 |
c.1891G>T |
p.A631S |
Missense |
15/17 |
- |
11-69514130-T-A |
FGF19 |
c.551A>T |
p.E184V |
Missense |
3/3 |
- |
16-23646339-T-C |
PALB2 |
c.1528A>G |
p.R510G |
Missense |
4/13 |
- |
5-112178805-G-C |
APC |
c.7514G>C |
p.R2505P |
Missense |
16/16 |
- |
5-79974857-C-T |
MSH3 |
c.1285C>T |
p.P429S |
Missense |
8/24 |
- |
18-9559596-C-G |
PPP4R1 |
c.1849G>C |
p.V617L |
Missense |
14/20 |
- |
9-2086997-C-T |
SMARCA2 |
c.2695C>T |
p.L899F |
Missense |
18/34 |
- |
X-123164949-G-T |
STAG2 |
c.262G>T |
p.V88F |
Missense |
5/35 |
- |
2-169792916-C-A |
ABCB11 |
c.2638G>T |
p.V880F |
Missense |
22/28 |
- |
2-29462590-G-T |
ALK |
c.2311C>A |
p.L771M |
Missense |
13/29 |
- |
7-2968297-G-C |
CARD11 |
c.1689C>G |
p.I563M |
Missense |
13/25 |
- |
5-11018094-A-G |
CTNND2 |
c.3076T>C |
p.Y1026H |
Missense |
18/22 |
- |
1-242048737-A-G |
EXO1 |
c.2333A>G |
p.H778R |
Missense |
15/16 |
- |
8-139209846-G-T |
FAM135B |
c.736C>A |
p.L246M |
Missense |
8/20 |
- |
8-139165234-C-T |
FAM135B |
c.1484G>A |
p.C495Y |
Missense |
13/20 |
- |
14-45623204-G-T |
FANCM |
c.1132G>T |
p.G378* |
Nonsense |
6/23 |
- |
4-187584757-C-A |
FAT1 |
c.3276G>T |
p.E1092D |
Missense |
3/27 |
- |
4-187510374-C-A |
FAT1 |
c.13139G>T |
p.G4380V |
Missense |
27/27 |
- |
11-118376344-T-G |
KMT2A |
c.9737T>G |
p.I3246S |
Missense |
27/36 |
- |
2-140992428-C-A |
LRP1B |
c.13586G>T |
p.S4529I |
Missense |
90/91 |
- |
16-23641726-C-G |
PALB2 |
c.1749G>C |
p.L583F |
Missense |
5/13 |
- |
14-62016445-A-C |
PRKCH |
c.1948A>C |
p.K650Q |
Missense |
14/14 |
- |
4-20550161-A-T |
SLIT2 |
c.2396A>T |
p.N799I |
Missense |
23/37 |
- |
16-3642800-C-T |
SLX4 |
c.2227G>A |
p.V743M |
Missense |
11/15 |
- |
3-181430515-G-T |
SOX2 |
c.367G>T |
p.D123Y |
Missense |
1/1 |
- |
3-105586309-T-C |
CBLB |
c.113A>G |
p.Q38R |
Missense |
2/19 |
- |
9-21971183-C-A |
CDKN2A |
c.175G>T |
p.V59L |
Missense |
2/3 |
- |
8-139164829-A-T |
FAM135B |
c.1889T>A |
p.L630Q |
Missense |
13/20 |
- |
2-17954489-A-T |
GEN1 |
c.994A>T |
p.I332F |
Missense |
10/14 |
- |
1-92948511-C-T |
GFI1 |
c.208G>A |
p.A70T |
Missense |
3/7 |
- |
1-92946270-C-T |
GFI1 |
c.674G>A |
p.R225H |
Missense |
4/7 |
- |
10-64949190-C-T |
JMJD1C |
c.6308G>A |
p.R2103Q |
Missense |
18/26 |
- |
2-16085894-G-T |
MYCN |
c.1070G>T |
p.R357L |
Missense |
3/3 |
- |
16-81941359-A-G |
PLCG2 |
c.1537A>G |
p.M513V |
Missense |
16/33 |
- |
2-55791607-C-A |
PPP4R3B |
c.2102G>T |
p.R701I |
Missense |
15/17 |
- |
9-8528615-C-T |
PTPRD |
c.517G>A |
p.G173S |
Missense |
15/46 |
- |
18-20581605-G-A |
RBBP8 |
c.2200G>A |
p.E734K |
Missense |
15/19 |
- |
17-78363006-A-G |
RNF213 |
c.15034A>G |
p.S5012G |
Missense |
65/68 |
- |
16-3646361-G-A |
SLX4 |
c.1717C>T |
p.P573S |
Missense |
8/15 |
- |
1-158617406-G-T |
SPTA1 |
c.3819C>A |
p.D1273E |
Missense |
27/52 |
- |
16-72821620-C-T |
ZFHX3 |
c.10555G>A |
p.G3519S |
Missense |
10/10 |
- |
16-2111939-ACCAGAACGAGTT-A |
TSC2 |
c.1191_1202del12 |
p.Q397_F400del |
InFrameDeletion |
12/42 |
- |
1-98157294-T-G |
DPYD |
c.741A>C |
p.L247= |
Synonymous |
7/23 |
- |
16-23649444-C-T |
PALB2 |
c.55G>A |
p.E19K |
Missense |
2/13 |
- |
9-135772878-G-C |
TSC1 |
c.2745C>G |
p.H915Q |
Missense |
21/23 |
- |
16-23632777-T-A |
PALB2 |
c.3019A>T |
p.M1007L |
Missense |
10/13 |
- |
1-158590216-G-T |
SPTA1 |
c.6161C>A |
p.A2054D |
Missense |
44/52 |
- |
15-91347400-G-A |
BLM |
c.3562G>A |
p.D1188N |
Missense |
19/22 |
- |
16-23646393-C-A |
PALB2 |
c.1474G>T |
p.G492W |
Missense |
4/13 |
- |
3-183245796-G-T |
KLHL6 |
c.296C>A |
p.A99D |
Missense |
2/7 |
- |
8-41812896-C-A |
KAT6A |
c.1516G>T |
p.V506F |
Missense |
9/17 |
- |
2-141571310-T-A |
LRP1B |
c.5275A>T |
p.R1759* |
Nonsense |
32/91 |
- |
4-110932529-A-T |
EGF |
c.3542A>T |
p.K1181M |
Missense |
24/24 |
- |
9-2047229-G-T |
SMARCA2 |
c.791G>T |
p.G264V |
Missense |
5/34 |
- |
14-95590793-A-T |
DICER1 |
c.1116T>A |
p.F372L |
Missense |
8/27 |
- |
21-44840229-C-T |
SIK1 |
c.857G>A |
p.G286E |
Missense |
8/14 |
- |
11-94204796-G-C |
MRE11 |
c.789C>G |
p.I263M |
Missense |
8/20 |
- |
14-35872380-T-A |
NFKBIA |
c.523A>T |
p.I175F |
Missense |
3/6 |
- |
13-28578233-C-G |
FLT3 |
c.2938G>C |
p.D980H |
Missense |
24/24 |
- |
2-141200116-G-C |
LRP1B |
c.10371C>G |
p.D3457E |
Missense |
66/91 |
- |
17-7578451-ATGGCGCGGACGCGGG-A |
TP53 |
c.464_478del15 |
p.T155_A159del |
InFrameDeletion |
5/11 |
- |
9-98270534-C-T |
PTCH1 |
c.110G>A |
p.G37E |
Missense |
1/24 |
- |
4-110908944-T-C |
EGF |
c.2536T>C |
p.C846R |
Missense |
17/24 |
- |
1-158627327-G-C |
SPTA1 |
c.2745C>G |
p.I915M |
Missense |
19/52 |
- |
2-29449919-A-T |
ALK |
c.2936T>A |
p.V979E |
Missense |
18/29 |
- |
15-91292785-G-T |
BLM |
c.287G>T |
p.G96V |
Missense |
3/22 |
- |
16-9858269-G-T |
GRIN2A |
c.3132C>A |
p.H1044Q |
Missense |
13/13 |
- |
4-187630783-C-A |
FAT1 |
c.199G>T |
p.A67S |
Missense |
2/27 |
- |
7-2946433-C-A |
CARD11 |
c.3304G>T |
p.V1102L |
Missense |
25/25 |
- |
15-88678557-C-A |
NTRK3 |
c.979G>T |
p.G327C |
Missens |