1 |
P10c |
CCNE1 |
1 |
121693328 |
121693328 |
+ |
Missense_Mutation |
SNP |
G |
C |
novel |
c.51C>G |
p.Asp17Glu |
p.D17E |
XM_022426492.1 |
2021-09-03 00:00:00 |
missense_variant |
D/E |
gaC/gaG |
MODERATE |
2 |
P10c |
GATA3 |
2 |
28079026 |
28079026 |
+ |
Missense_Mutation |
SNP |
G |
A |
novel |
c.806C>T |
p.Ala269Val |
p.A269V |
XM_844060.3 |
2021-06-04 00:00:00 |
missense_variant |
A/V |
gCc/gTc |
MODERATE |
3 |
P10c |
GATA3 |
2 |
28084971 |
28084972 |
+ |
Missense_Mutation |
DNP |
TC |
CT |
novel |
c.356_357delinsAG |
p.Arg119Lys |
p.R119K |
XM_844060.3 |
2021-06-03 00:00:00 |
missense_variant |
R/K |
aGA/aAG |
MODERATE |
4 |
P10c |
FGFR4 |
4 |
36248985 |
36248985 |
+ |
Missense_Mutation |
SNP |
C |
T |
novel |
c.889G>A |
p.Asp297Asn |
p.D297N |
XM_005619171.3 |
2018-07-01 00:00:00 |
missense_variant |
D/N |
Gac/Aac |
MODERATE |
5 |
P10c |
ATM |
5 |
24203364 |
24203364 |
+ |
Missense_Mutation |
SNP |
C |
A |
novel |
c.7653G>T |
p.Glu2551Asp |
p.E2551D |
XM_014113193.2 |
52/63 |
missense_variant |
E/D |
gaG/gaT |
MODERATE |
6 |
P10c |
ATM |
5 |
24271502 |
24271502 |
+ |
Missense_Mutation |
SNP |
T |
C |
novel |
c.1153A>G |
p.Lys385Glu |
p.K385E |
XM_014113193.2 |
1963-09-01 00:00:00 |
missense_variant |
K/E |
Aaa/Gaa |
MODERATE |
7 |
P10c |
ALOX12 |
5 |
32028659 |
32028659 |
+ |
Missense_Mutation |
SNP |
T |
C |
novel |
c.557T>C |
p.Val186Ala |
p.V186A |
XM_536613.6 |
2014-05-01 00:00:00 |
missense_variant |
V/A |
gTc/gCc |
MODERATE |
8 |
P10c |
ALOX12 |
5 |
32028669 |
32028670 |
+ |
Missense_Mutation |
DNP |
CA |
TG |
novel |
c.567_568inv |
p.Ile190Val |
p.I190V |
XM_536613.6 |
2014-05-01 00:00:00 |
missense_variant |
RI/RV |
cgCAtc/cgTGtc |
MODERATE |
9 |
P10c |
ALOX12 |
5 |
32030679 |
32030680 |
+ |
Missense_Mutation |
DNP |
GT |
TC |
novel |
c.1033_1034delinsTC |
p.Val345Ser |
p.V345S |
XM_536613.6 |
2014-08-01 00:00:00 |
missense_variant |
V/S |
GTc/TCc |
MODERATE |
10 |
P10c |
ALOX12 |
5 |
32030712 |
32030712 |
+ |
Missense_Mutation |
SNP |
C |
G |
novel |
c.1066C>G |
p.Gln356Glu |
p.Q356E |
XM_536613.6 |
2014-08-01 00:00:00 |
missense_variant |
Q/E |
Cag/Gag |
MODERATE |
11 |
P10c |
ALOX12 |
5 |
32030715 |
32030715 |
+ |
Missense_Mutation |
SNP |
C |
A |
novel |
c.1069C>A |
p.Leu357Ile |
p.L357I |
XM_536613.6 |
2014-08-01 00:00:00 |
missense_variant |
L/I |
Ctc/Atc |
MODERATE |
12 |
P10c |
ALOX12 |
5 |
32033839 |
32033840 |
+ |
Frame_Shift_Ins |
INS |
- |
GG |
novel |
c.1295_1296insGG |
p.Met433AlafsTer5 |
p.M433Afs*5 |
XM_536613.6 |
2014-10-01 00:00:00 |
frameshift_variant |
A/AX |
gcc/gcGGc |
HIGH |
13 |
P10c |
ALOX12 |
5 |
32033842 |
32033843 |
+ |
Frame_Shift_Del |
DEL |
TG |
- |
novel |
c.1298_1299del |
p.Met433SerfsTer12 |
p.M433Sfs*12 |
XM_536613.6 |
2014-10-01 00:00:00 |
frameshift_variant |
M/X |
aTG/a |
HIGH |
14 |
P10c |
ALOX12 |
5 |
32033859 |
32033859 |
+ |
Missense_Mutation |
SNP |
C |
T |
novel |
c.1315C>T |
p.Arg439Cys |
p.R439C |
XM_536613.6 |
2014-10-01 00:00:00 |
missense_variant |
R/C |
Cgt/Tgt |
MODERATE |
15 |
P10c |
PMS2 |
6 |
11428992 |
11428992 |
+ |
Missense_Mutation |
SNP |
G |
A |
novel |
c.958C>T |
p.Arg320Trp |
p.R320W |
XM_014114296.2 |
2015-08-01 00:00:00 |
missense_variant |
R/W |
Cgg/Tgg |
MODERATE |
16 |
P10c |
PMS2 |
6 |
11436377 |
11436377 |
+ |
Missense_Mutation |
SNP |
C |
G |
novel |
c.217G>C |
p.Val73Leu |
p.V73L |
XM_014114296.2 |
2015-02-01 00:00:00 |
missense_variant |
V/L |
Gtg/Ctg |
MODERATE |
17 |
P10c |
PMS2 |
6 |
11436385 |
11436385 |
+ |
Missense_Mutation |
SNP |
T |
C |
novel |
c.209A>G |
p.Glu70Gly |
p.E70G |
XM_014114296.2 |
2015-02-01 00:00:00 |
missense_variant |
E/G |
gAa/gGa |
MODERATE |
18 |
P10c |
PMS2 |
6 |
11436392 |
11436392 |
+ |
Missense_Mutation |
SNP |
A |
T |
novel |
c.202T>A |
p.Leu68Met |
p.L68M |
XM_014114296.2 |
2015-02-01 00:00:00 |
missense_variant |
L/M |
Ttg/Atg |
MODERATE |
19 |
P10c |
PMS2 |
6 |
11436395 |
11436395 |
+ |
Missense_Mutation |
SNP |
C |
T |
novel |
c.199G>A |
p.Glu67Lys |
p.E67K |
XM_014114296.2 |
2015-02-01 00:00:00 |
missense_variant |
E/K |
Gag/Aag |
MODERATE |
20 |
P10c |
PMS2 |
6 |
11436426 |
11436427 |
+ |
Missense_Mutation |
DNP |
TT |
CG |
novel |
c.167_168delinsCG |
p.Gln56Pro |
p.Q56P |
XM_014114296.2 |
2015-02-01 00:00:00 |
missense_variant |
Q/P |
cAA/cCG |
MODERATE |
21 |
P10c |
PMS2 |
6 |
11436484 |
11436484 |
+ |
Missense_Mutation |
SNP |
A |
G |
novel |
c.110T>C |
p.Leu37Pro |
p.L37P |
XM_014114296.2 |
2015-02-01 00:00:00 |
missense_variant |
L/P |
cTt/cCt |
MODERATE |
22 |
Tumor_Sample_Barcode |
Hugo_Symbol |
Chromosome |
Start_Position |
End_Position |
Strand |
Variant_Classification |
Variant_Type |
Reference_Allele |
Tumor_Seq_Allele2 |
dbSNP_RS |
HGVSc |
HGVSp |
HGVSp_Short |
Transcript_ID |
Exon_Number |
Consequence |
Amino_acids |
Codons |
IMPACT |
23 |
P10c |
PALB2 |
6 |
22215798 |
22215798 |
+ |
Missense_Mutation |
SNP |
G |
T |
novel |
c.505G>T |
p.Asp169Tyr |
p.D169Y |
XM_845578.5 |
2013-04-01 00:00:00 |
missense_variant |
D/Y |
Gat/Tat |
MODERATE |
24 |
P10c |
TGFBR3 |
6 |
57188895 |
57188895 |
+ |
Missense_Mutation |
SNP |
G |
C |
novel |
c.1978G>C |
p.Asp660His |
p.D660H |
XM_005621935.3 |
13/17 |
missense_variant |
D/H |
Gat/Cat |
MODERATE |
25 |
P10c |
TGFBR3 |
6 |
57188903 |
57188904 |
+ |
Missense_Mutation |
DNP |
TA |
CC |
novel |
c.1986_1987delinsCC |
p.Ile663Leu |
p.I663L |
XM_005621935.3 |
13/17 |
missense_variant |
TI/TL |
acTAtc/acCCtc |
MODERATE |
26 |
P10c |
TGFBR3 |
6 |
57188910 |
57188910 |
+ |
Nonsense_Mutation |
SNP |
G |
T |
novel |
c.1993G>T |
p.Glu665Ter |
p.E665* |
XM_005621935.3 |
13/17 |
stop_gained |
E/* |
Gaa/Taa |
HIGH |
27 |
P10c |
TGFBR3 |
6 |
57188920 |
57188920 |
+ |
Missense_Mutation |
SNP |
G |
T |
novel |
c.2003G>T |
p.Cys668Phe |
p.C668F |
XM_005621935.3 |
13/17 |
missense_variant |
C/F |
tGt/tTt |
MODERATE |
28 |
P10c |
TGFBR3 |
6 |
57188928 |
57188928 |
+ |
Missense_Mutation |
SNP |
G |
A |
novel |
c.2011G>A |
p.Asp671Asn |
p.D671N |
XM_005621935.3 |
13/17 |
missense_variant |
D/N |
Gat/Aat |
MODERATE |
29 |
P10c |
EXO1 |
7 |
33239140 |
33239140 |
+ |
Missense_Mutation |
SNP |
A |
G |
novel |
c.161A>G |
p.Lys54Arg |
p.K54R |
XM_003639186.4 |
2015-03-01 00:00:00 |
missense_variant,splice_region_variant |
K/R |
aAg/aGg |
MODERATE |
30 |
P10c |
AKT1 |
8 |
72320612 |
72320612 |
+ |
Missense_Mutation |
SNP |
G |
T |
novel |
c.1027C>A |
p.Leu343Met |
p.L343M |
XM_022422422.1 |
2014-11-01 00:00:00 |
missense_variant |
L/M |
Ctg/Atg |
MODERATE |
31 |
P10c |
KRT17 |
9 |
21156757 |
21156757 |
+ |
Missense_Mutation |
SNP |
A |
G |
novel |
c.365A>G |
p.Lys122Arg |
p.K122R |
XM_548100.5 |
2021-09-02 00:00:00 |
missense_variant |
K/R |
aAg/aGg |
MODERATE |
32 |
P10c |
KRT17 |
9 |
21156791 |
21156791 |
+ |
Missense_Mutation |
SNP |
C |
G |
novel |
c.399C>G |
p.His133Gln |
p.H133Q |
XM_548100.5 |
2021-09-02 00:00:00 |
missense_variant |
H/Q |
caC/caG |
MODERATE |
33 |
P10c |
KRT17 |
9 |
21156798 |
21156799 |
+ |
Missense_Mutation |
DNP |
CA |
AG |
novel |
c.406_407delinsAG |
p.Gln136Arg |
p.Q136R |
XM_548100.5 |
2021-09-02 00:00:00 |
missense_variant |
Q/R |
CAg/AGg |
MODERATE |
34 |
P10c |
KRT17 |
9 |
21156812 |
21156812 |
+ |
Missense_Mutation |
SNP |
C |
G |
novel |
c.420C>G |
p.Asp140Glu |
p.D140E |
XM_548100.5 |
2021-09-02 00:00:00 |
missense_variant |
D/E |
gaC/gaG |
MODERATE |
35 |
P10c |
KRT17 |
9 |
21156816 |
21156816 |
+ |
Missense_Mutation |
SNP |
A |
C |
novel |
c.424A>C |
p.Lys142Gln |
p.K142Q |
XM_548100.5 |
2021-09-02 00:00:00 |
missense_variant |
K/Q |
Aag/Cag |
MODERATE |
36 |
P10c |
CDC6 |
9 |
22306187 |
22306187 |
+ |
Missense_Mutation |
SNP |
T |
G |
novel |
c.1345A>C |
p.Lys449Gln |
p.K449Q |
XM_005624534.3 |
2021-12-10 00:00:00 |
missense_variant |
K/Q |
Aaa/Caa |
MODERATE |
37 |
P10c |
CDC6 |
9 |
22314384 |
22314384 |
+ |
Missense_Mutation |
SNP |
T |
C |
novel |
c.535A>G |
p.Asn179Asp |
p.N179D |
XM_005624534.3 |
2021-12-04 00:00:00 |
missense_variant |
N/D |
Aat/Gat |
MODERATE |
38 |
P10c |
CDC6 |
9 |
22314392 |
22314392 |
+ |
Missense_Mutation |
SNP |
T |
C |
novel |
c.527A>G |
p.Lys176Arg |
p.K176R |
XM_005624534.3 |
2021-12-04 00:00:00 |
missense_variant |
K/R |
aAg/aGg |
MODERATE |
39 |
P10c |
ERBB2 |
9 |
22761207 |
22761207 |
+ |
Missense_Mutation |
SNP |
C |
T |
novel |
c.3631G>A |
p.Ala1211Thr |
p.A1211T |
XM_022422534.1 |
27/27 |
missense_variant |
A/T |
Gca/Aca |
MODERATE |
40 |
P10c |
ERBB2 |
9 |
22761609 |
22761609 |
+ |
Nonsense_Mutation |
SNP |
G |
A |
novel |
c.3352C>T |
p.Gln1118Ter |
p.Q1118* |
XM_022422534.1 |
26/27 |
stop_gained |
Q/* |
Cag/Tag |
HIGH |
41 |
P10c |
ERBB2 |
9 |
22763074 |
22763074 |
+ |
Missense_Mutation |
SNP |
C |
T |
novel |
c.2758G>A |
p.Ala920Thr |
p.A920T |
XM_022422534.1 |
23/27 |
missense_variant |
A/T |
Gcc/Acc |
MODERATE |
42 |
P10c |
ERBB2 |
9 |
22770548 |
22770549 |
+ |
Missense_Mutation |
DNP |
AT |
TC |
novel |
c.1550_1551delinsGA |
p.His517Arg |
p.H517R |
XM_022422534.1 |
13/27 |
missense_variant |
H/R |
cAT/cGA |
MODERATE |
43 |
P10c |
ERBB2 |
9 |
22770561 |
22770561 |
+ |
Missense_Mutation |
SNP |
G |
T |
novel |
c.1538C>A |
p.Pro513Gln |
p.P513Q |
XM_022422534.1 |
13/27 |
missense_variant |
P/Q |
cCg/cAg |
MODERATE |
44 |
P10c |
ERBB2 |
9 |
22770565 |
22770565 |
+ |
Missense_Mutation |
SNP |
A |
G |
novel |
c.1534T>C |
p.Tyr512His |
p.Y512H |
XM_022422534.1 |
13/27 |
missense_variant |
Y/H |
Tac/Cac |
MODERATE |
45 |
P10c |
ERBB2 |
9 |
22775543 |
22775543 |
+ |
Missense_Mutation |
SNP |
G |
A |
novel |
c.847C>T |
p.Pro283Ser |
p.P283S |
XM_022422534.1 |
2027-07-01 00:00:00 |
missense_variant |
P/S |
Ccc/Tcc |
MODERATE |
46 |
P10c |
RAD51C |
9 |
33293917 |
33293917 |
+ |
Missense_Mutation |
SNP |
C |
G |
novel |
c.516C>G |
p.His172Gln |
p.H172Q |
XM_022423222.1 |
2021-10-03 00:00:00 |
missense_variant |
H/Q |
caC/caG |
MODERATE |
47 |
P10c |
RAD51C |
9 |
33293928 |
33293928 |
+ |
Missense_Mutation |
SNP |
G |
A |
novel |
c.527G>A |
p.Gly176Glu |
p.G176E |
XM_022423222.1 |
2021-10-03 00:00:00 |
missense_variant |
G/E |
gGa/gAa |
MODERATE |
48 |
P10c |
RAD51C |
9 |
33293931 |
33293931 |
+ |
Missense_Mutation |
SNP |
G |
A |
novel |
c.530G>A |
p.Arg177Lys |
p.R177K |
XM_022423222.1 |
2021-10-03 00:00:00 |
missense_variant |
R/K |
aGa/aAa |
MODERATE |
49 |
P10c |
RAD51C |
9 |
33293937 |
33293937 |
+ |
Missense_Mutation |
SNP |
T |
A |
novel |
c.536T>A |
p.Met179Lys |
p.M179K |
XM_022423222.1 |
2021-10-03 00:00:00 |
missense_variant |
M/K |
aTg/aAg |
MODERATE |
50 |
P10c |
NF1 |
9 |
41482817 |
41482817 |
+ |
Missense_Mutation |
SNP |
C |
G |
novel |
c.8212G>C |
p.Gly2738Arg |
p.G2738R |
XM_022423324.1 |
57/58 |
missense_variant,splice_region_variant |
G/R |
Gga/Cga |
MODERATE |
51 |
P10c |
NF1 |
9 |
41587157 |
41587157 |
+ |
Missense_Mutation |
SNP |
G |
A |
novel |
c.4097C>T |
p.Pro1366Leu |
p.P1366L |
XM_022423324.1 |
32/58 |
missense_variant |
P/L |
cCg/cTg |
MODERATE |
52 |
P10c |
NF1 |
9 |
41587169 |
41587169 |
+ |
Missense_Mutation |
SNP |
G |
T |
novel |
c.4085C>A |
p.Ala1362Asp |
p.A1362D |
XM_022423324.1 |
32/58 |
missense_variant |
A/D |
gCc/gAc |
MODERATE |
53 |
P10c |
NF1 |
9 |
41587177 |
41587177 |
+ |
Missense_Mutation |
SNP |
G |
C |
novel |
c.4077C>G |
p.Ile1359Met |
p.I1359M |
XM_022423324.1 |
32/58 |
missense_variant |
I/M |
atC/atG |
MODERATE |
54 |
P10c |
NF1 |
9 |
41587204 |
41587205 |
+ |
Missense_Mutation |
DNP |
CA |
TG |
novel |
c.4049_4050inv |
p.Val1350Ala |
p.V1350A |
XM_022423324.1 |
32/58 |
missense_variant |
V/A |
gTG/gCA |
MODERATE |
55 |
P10c |
NF1 |
9 |
41587212 |
41587212 |
+ |
Missense_Mutation |
SNP |
C |
T |
novel |
c.4042G>A |
p.Gly1348Ser |
p.G1348S |
XM_022423324.1 |
32/58 |
missense_variant |
G/S |
Ggt/Agt |
MODERATE |
56 |
P10c |
NF1 |
9 |
41587244 |
41587244 |
+ |
Missense_Mutation |
SNP |
A |
C |
novel |
c.4010T>G |
p.Val1337Gly |
p.V1337G |
XM_022423324.1 |
32/58 |
missense_variant,splice_region_variant |
V/G |
gTg/gGg |
MODERATE |
57 |
F1 |
BCL2 |
1 |
13900319 |
13900319 |
+ |
Missense_Mutation |
SNP |
G |
C |
novel |
c.568G>C |
p.Ala190Pro |
p.A190P |
NM_001002949.1 |
2021-04-04 00:00:00 |
missense_variant |
A/P |
Gcc/Ccc |
MODERATE |
58 |
F1 |
BCL2 |
1 |
13900326 |
13900326 |
+ |
Missense_Mutation |
SNP |
T |
G |
novel |
c.575T>G |
p.Val192Gly |
p.V192G |
NM_001002949.1 |
2021-04-04 00:00:00 |
missense_variant |
V/G |
gTg/gGg |
MODERATE |
59 |
F1 |
GATA3 |
2 |
28084971 |
28084972 |
+ |
Missense_Mutation |
DNP |
TC |
CT |
novel |
c.356_357delinsAG |
p.Arg119Lys |
p.R119K |
XM_844060.3 |
2021-06-03 00:00:00 |
missense_variant |
R/K |
aGA/aAG |
MODERATE |
60 |
F1 |
MTOR |
2 |
84833425 |
84833425 |
+ |
Splice_Site |
SNP |
G |
C |
novel |
c.841-1G>C |
nan |
p.X281_splice |
XM_005618003.3 |
nan |
splice_acceptor_variant |
nan |
nan |
HIGH |
61 |
F1 |
MTOR |
2 |
84833430 |
84833430 |
+ |
Missense_Mutation |
SNP |
T |
C |
novel |
c.845T>C |
p.Leu282Pro |
p.L282P |
XM_005618003.3 |
1958-07-01 00:00:00 |
missense_variant |
L/P |
cTg/cCg |
MODERATE |
62 |
F1 |
ATM |
5 |
24265195 |
24265195 |
+ |
Missense_Mutation |
SNP |
C |
T |
novel |
c.2137G>A |
p.Glu713Lys |
p.E713K |
XM_014113193.2 |
14/63 |
missense_variant |
E/K |
Gag/Aag |
MODERATE |
63 |
F1 |
FOXC2 |
5 |
66295345 |
66295345 |
+ |
Missense_Mutation |
SNP |
G |
T |
novel |
c.349C>A |
p.Gln117Lys |
p.Q117K |
XM_014113959.2 |
2021-02-01 00:00:00 |
missense_variant |
Q/K |
Cag/Aag |
MODERATE |
64 |
F1 |
FOXC2 |
5 |
66295348 |
66295348 |
+ |
Missense_Mutation |
SNP |
A |
C |
novel |
c.346T>G |
p.Trp116Gly |
p.W116G |
XM_014113959.2 |
2021-02-01 00:00:00 |
missense_variant |
W/G |
Tgg/Ggg |
MODERATE |
65 |
F1 |
FOXC2 |
5 |
66295383 |
66295383 |
+ |
Missense_Mutation |
SNP |
T |
G |
novel |
c.311A>C |
p.Asp104Ala |
p.D104A |
XM_014113959.2 |
2021-02-01 00:00:00 |
missense_variant |
D/A |
gAc/gCc |
MODERATE |
66 |
F1 |
TGFBR3 |
6 |
57181657 |
57181657 |
+ |
Missense_Mutation |
SNP |
T |
G |
novel |
c.1577T>G |
p.Val526Gly |
p.V526G |
XM_005621935.3 |
2017-10-01 00:00:00 |
missense_variant |
V/G |
gTt/gGt |
MODERATE |
67 |
F1 |
FOXA1 |
8 |
16079618 |
16079620 |
+ |
In_Frame_Del |
DEL |
CCG |
- |
novel |
c.879_881del |
p.Gly294del |
p.G294del |
XM_847261.4 |
2021-05-02 00:00:00 |
inframe_deletion |
GG/G |
ggCGGa/gga |
MODERATE |
68 |
F1 |
AKT1 |
8 |
72321248 |
72321248 |
+ |
Missense_Mutation |
SNP |
A |
G |
novel |
c.650T>C |
p.Phe217Ser |
p.F217S |
XM_022422422.1 |
2014-08-01 00:00:00 |
missense_variant |
F/S |
tTc/tCc |
MODERATE |
69 |
F1 |
BRIP1 |
9 |
34854418 |
34854418 |
+ |
Missense_Mutation |
SNP |
T |
A |
novel |
c.718T>A |
p.Ser240Thr |
p.S240T |
XM_847556.5 |
2020-07-01 00:00:00 |
missense_variant |
S/T |
Tcc/Acc |
MODERATE |
70 |
F1 |
BRIP1 |
9 |
34854442 |
34854442 |
+ |
Missense_Mutation |
SNP |
G |
T |
novel |
c.742G>T |
p.Gly248Trp |
p.G248W |
XM_847556.5 |
2020-07-01 00:00:00 |
missense_variant |
G/W |
Ggg/Tgg |
MODERATE |
71 |
F1 |
NF1 |
9 |
41484290 |
41484290 |
+ |
Splice_Site |
SNP |
A |
C |
novel |
c.7995+2T>G |
nan |
p.X2665_splice |
XM_022423324.1 |
nan |
splice_donor_variant |
nan |
nan |
HIGH |
72 |
F1 |
CDK2 |
10 |
302984 |
302984 |
+ |
Missense_Mutation |
SNP |
A |
G |
novel |
c.394A>G |
p.Asn132Asp |
p.N132D |
XM_005625479.3 |
2021-08-04 00:00:00 |
missense_variant |
N/D |
Aat/Gat |
MODERATE |
73 |
F1 |
CDK2 |
10 |
302995 |
302995 |
+ |
Missense_Mutation |
SNP |
C |
G |
novel |
c.405C>G |
p.Ile135Met |
p.I135M |
XM_005625479.3 |
2021-08-04 00:00:00 |
missense_variant |
I/M |
atC/atG |
MODERATE |
74 |
F1 |
CDK2 |
10 |
303006 |
303006 |
+ |
Missense_Mutation |
SNP |
G |
T |
novel |
c.416G>T |
p.Gly139Val |
p.G139V |
XM_005625479.3 |
2021-08-04 00:00:00 |
missense_variant |
G/V |
gGg/gTg |
MODERATE |
75 |
F1 |
CDK2 |
10 |
303012 |
303013 |
+ |
Missense_Mutation |
DNP |
TC |
GG |
novel |
c.422_423delinsGG |
p.Ile141Arg |
p.I141R |
XM_005625479.3 |
2021-08-04 00:00:00 |
missense_variant |
I/R |
aTC/aGG |
MODERATE |
76 |
F1 |
CDK2 |
10 |
303026 |
303026 |
+ |
Missense_Mutation |
SNP |
T |
C |
novel |
c.436T>C |
p.Phe146Leu |
p.F146L |
XM_005625479.3 |
2021-08-04 00:00:00 |
missense_variant |
F/L |
Ttt/Ctt |
MODERATE |
77 |
F1 |
MELK |
11 |
53050586 |
53050586 |
+ |
Nonsense_Mutation |
SNP |
C |
A |
novel |
c.1199C>A |
p.Ser400Ter |
p.S400* |
XM_014117862.2 |
14/18 |
stop_gained |
S/* |
tCa/tAa |
HIGH |
78 |
F1 |
SFRP1 |
16 |
24262826 |
24262827 |
+ |
Frame_Shift_Ins |
INS |
- |
A |
rs851244653 |
c.374_375insA |
p.Phe125LeufsTer9 |
p.F125Lfs*9 |
XM_003639564.2 |
2021-04-02 00:00:00 |
frameshift_variant,splice_region_variant |
F/LX |
ttc/ttAc |
HIGH |
79 |
F1 |
RRM2 |
17 |
7106660 |
7106660 |
+ |
Missense_Mutation |
SNP |
A |
G |
novel |
c.109A>G |
p.Asn37Asp |
p.N37D |
XM_540076.6 |
2021-10-01 00:00:00 |
missense_variant |
N/D |
Aac/Gac |
MODERATE |
80 |
F1 |
RRM2 |
17 |
7106665 |
7106737 |
+ |
Splice_Site |
DEL |
GGTGAGCGCGCGCGCGGGCCCGGGGGCGGGGACCTGAGGGCCGGGGCTGCCCCTCACCGCGCGTCTCCCCGCA |
- |
novel |
c.114+1_115-1del |
nan |
p.X38_splice |
XM_540076.6 |
2021-10-01 00:00:00 |
splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant |
nan |
nan |
HIGH |
81 |
F1 |
RRM2 |
17 |
7110434 |
7110435 |
+ |
Frame_Shift_Ins |
INS |
- |
GGAGAACG |
novel |
c.679+1_679+2insAGAACGGG |
nan |
nan |
XM_540076.6 |
2021-10-06 00:00:00 |
frameshift_variant,splice_region_variant |
-/GEX |
-/GGAGAACG |
HIGH |
82 |
F1 |
BRCA2 |
25 |
7735412 |
7735413 |
+ |
In_Frame_Ins |
INS |
- |
TTT |
rs853007536 |
c.9995_9996insAAA |
p.Met3332delinsIleLys |
p.M3332delinsIK |
XM_014107324.2 |
27/27 |
protein_altering_variant |
M/IK |
atg/atAAAg |
MODERATE |
83 |
F1 |
BRCA2 |
25 |
7768691 |
7768693 |
+ |
In_Frame_Del |
DEL |
AAC |
- |
rs397511123 |
c.6918_6920del |
p.Leu2307del |
p.L2307del |
XM_014107324.2 |
2027-12-01 00:00:00 |
inframe_deletion |
LL/L |
ttGTTa/tta |
MODERATE |
84 |
F1 |
CEP55 |
28 |
7771788 |
7771789 |
+ |
Frame_Shift_Ins |
INS |
- |
T |
rs852818748 |
c.593dup |
p.Leu198PhefsTer6 |
p.L198Ffs*6 |
XM_022411809.1 |
2021-10-06 00:00:00 |
frameshift_variant,splice_region_variant |
A/AX |
gct/gcTt |
HIGH |
85 |
F1 |
CEP55 |
28 |
7777487 |
7777488 |
+ |
Missense_Mutation |
DNP |
GT |
TC |
novel |
c.1332_1333delinsTC |
p.Gln444_Tyr445delinsHisHis |
p.Q444_Y445delinsHH |
XM_022411809.1 |
2021-10-10 00:00:00 |
missense_variant |
QY/HH |
caGTac/caTCac |
MODERATE |
86 |
F1 |
USH2A |
38 |
11066225 |
11066225 |
+ |
Missense_Mutation |
SNP |
A |
C |
novel |
c.15504T>G |
p.Ser5168Arg |
p.S5168R |
XM_545710.4 |
70/71 |
missense_variant |
S/R |
agT/agG |
MODERATE |
87 |
F1 |
USH2A |
38 |
11066228 |
11066228 |
+ |
Missense_Mutation |
SNP |
A |
T |
novel |
c.15501T>A |
p.Asp5167Glu |
p.D5167E |
XM_545710.4 |
70/71 |
missense_variant |
D/E |
gaT/gaA |
MODERATE |
88 |
Both |
GATA3 |
2 |
28084971 |
28084972 |
+ |
Missense_Mutation |
DNP |
TC |
CT |
novel |
c.356_357delinsAG |
p.Arg119Lys |
p.R119K |
XM_844060.3 |
2021-06-03 00:00:00 |
missense_variant |
R/K |
aGA/aAG |
MODERATE |