If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
not provided |
total |
230
|
1114
|
0 |
0 |
0 |
61
|
1253
|
Gene and significance breakdown #
Total genes and gene combinations: 128
Gene or gene combination |
pathogenic |
likely pathogenic |
not provided |
total |
TP53
|
0 |
206
|
3
|
206
|
BRAF
|
24
|
53
|
1
|
65
|
PIK3CA
|
14
|
59
|
1
|
62
|
KIT
|
36
|
35
|
2
|
54
|
EGFR
|
6
|
44
|
4
|
48
|
CTNNB1, LOC126806658
|
5
|
40
|
0 |
40
|
FLT3
|
9
|
26
|
0 |
35
|
FGFR2
|
0 |
33
|
0 |
33
|
ALK
|
13
|
16
|
7
|
28
|
KRAS
|
23
|
15
|
4
|
28
|
MAP2K1
|
10
|
24
|
0 |
28
|
ABL1
|
0 |
26
|
1
|
27
|
HRAS, LRRC56
|
5
|
23
|
1
|
24
|
NRAS
|
20
|
19
|
1
|
24
|
STK11
|
0 |
24
|
0 |
24
|
ERBB2
|
7
|
20
|
1
|
23
|
CDKN2A
|
0 |
19
|
0 |
19
|
RET
|
1
|
18
|
0 |
18
|
SF3B1
|
0 |
18
|
1
|
18
|
PDGFRA
|
4
|
12
|
1
|
17
|
MTOR
|
0 |
14
|
2
|
16
|
FBXW7
|
0 |
15
|
0 |
15
|
MET
|
0 |
15
|
0 |
15
|
SMAD4
|
8
|
9
|
0 |
15
|
SPOP
|
0 |
15
|
0 |
15
|
APC
|
0 |
13
|
0 |
13
|
PTEN
|
6
|
10
|
1
|
13
|
FGFR3
|
0 |
12
|
0 |
12
|
PIK3R1
|
0 |
11
|
0 |
11
|
RAF1
|
0 |
11
|
0 |
11
|
RB1
|
0 |
10
|
0 |
10
|
CSF1R
|
0 |
9
|
0 |
9
|
ERBB3
|
0 |
8
|
0 |
8
|
IDH2
|
6
|
7
|
1
|
8
|
JAK3
|
0 |
8
|
0 |
8
|
MYC
|
0 |
8
|
0 |
8
|
NFE2L2
|
0 |
8
|
0 |
8
|
RHOA
|
0 |
8
|
0 |
8
|
DDR2
|
1
|
6
|
6
|
7
|
EZH2
|
0 |
7
|
0 |
7
|
FGFR1
|
0 |
7
|
0 |
7
|
INSL6, JAK2
|
4
|
4
|
1
|
7
|
MAP2K2
|
0 |
7
|
0 |
7
|
PTPN11
|
0 |
7
|
0 |
7
|
DNMT3A
|
6
|
3
|
0 |
6
|
ERBB4
|
0 |
6
|
0 |
6
|
IDH1
|
6
|
5
|
1
|
6
|
B2M
|
0 |
5
|
0 |
5
|
ESR1
|
4
|
1
|
0 |
5
|
PPP2R1A
|
0 |
5
|
0 |
5
|
RUNX1
|
0 |
5
|
0 |
5
|
ACVR1
|
0 |
4
|
0 |
4
|
CDK4
|
0 |
4
|
0 |
4
|
CNOT9
|
0 |
4
|
0 |
4
|
CREBBP
|
0 |
4
|
0 |
4
|
FGFR4
|
0 |
4
|
0 |
4
|
GNAQ
|
3
|
3
|
0 |
4
|
GNAS
|
0 |
4
|
0 |
4
|
NPM1
|
0 |
4
|
0 |
4
|
POLE
|
0 |
4
|
0 |
4
|
U2AF1
|
0 |
4
|
1
|
4
|
ARAF
|
0 |
3
|
1
|
3
|
BTK
|
0 |
3
|
1
|
3
|
ELOC
|
0 |
3
|
0 |
3
|
EPHA2
|
0 |
3
|
0 |
3
|
HERC2
|
3
|
0 |
0 |
3
|
JAK1, LOC126805749
|
0 |
3
|
0 |
3
|
LOC107303340, VHL
|
0 |
3
|
0 |
3
|
LOC130062899, STK11
|
0 |
3
|
0 |
3
|
MPL
|
0 |
3
|
0 |
3
|
PLCG2
|
0 |
3
|
0 |
3
|
RAC1
|
0 |
3
|
1
|
3
|
VHL
|
0 |
3
|
0 |
3
|
XPO1
|
0 |
3
|
0 |
3
|
ABCB1
|
0 |
0 |
2
|
2
|
AKT1
|
1
|
2
|
0 |
2
|
AKT2
|
0 |
2
|
0 |
2
|
CBL
|
0 |
2
|
0 |
2
|
CHEK2
|
0 |
2
|
0 |
2
|
CSF3R
|
0 |
2
|
0 |
2
|
EP300
|
0 |
2
|
0 |
2
|
GATA2
|
0 |
2
|
0 |
2
|
GNA11
|
2
|
2
|
0 |
2
|
H3-3A
|
0 |
2
|
0 |
2
|
H3C11
|
0 |
2
|
0 |
2
|
MED12
|
0 |
2
|
0 |
2
|
NOTCH1
|
0 |
0 |
2
|
2
|
RHEB
|
0 |
2
|
0 |
2
|
RXRA
|
0 |
2
|
0 |
2
|
SF3B2
|
0 |
2
|
0 |
2
|
ABCG2
|
0 |
0 |
1
|
1
|
AR
|
0 |
0 |
1
|
1
|
ATM, C11orf65
|
0 |
0 |
1
|
1
|
ATR
|
0 |
0 |
1
|
1
|
BCL2L12, LOC130064935
|
0 |
1
|
0 |
1
|
CRLF2
|
1
|
0 |
0 |
1
|
CRNKL1, LOC130065490
|
0 |
1
|
0 |
1
|
EPHA5
|
0 |
1
|
0 |
1
|
EPHB2
|
0 |
1
|
0 |
1
|
ERCC2
|
0 |
0 |
1
|
1
|
FOXL2
|
0 |
0 |
1
|
1
|
GSTP1
|
0 |
0 |
1
|
1
|
IL7R
|
0 |
1
|
0 |
1
|
KNSTRN
|
0 |
1
|
0 |
1
|
MAP2K1, SNAPC5
|
1
|
0 |
0 |
1
|
MAPK1
|
0 |
1
|
0 |
1
|
MGMT
|
0 |
0 |
1
|
1
|
MLH1
|
0 |
1
|
0 |
1
|
MTHFR
|
0 |
0 |
1
|
1
|
MYCN, MYCNOS
|
0 |
1
|
0 |
1
|
MYD88
|
0 |
1
|
0 |
1
|
NEK8
|
0 |
1
|
0 |
1
|
NQO1
|
0 |
0 |
1
|
1
|
NT5C2
|
0 |
0 |
1
|
1
|
PIK3R2
|
0 |
1
|
0 |
1
|
PPP6C
|
0 |
1
|
0 |
1
|
ROCK1
|
0 |
1
|
0 |
1
|
ROS1
|
0 |
1
|
0 |
1
|
SETBP1
|
0 |
0 |
1
|
1
|
SMO
|
1
|
0 |
0 |
1
|
SOS1
|
0 |
1
|
0 |
1
|
SRC
|
0 |
1
|
0 |
1
|
STK19
|
0 |
1
|
0 |
1
|
STK33
|
0 |
1
|
0 |
1
|
TEK
|
0 |
1
|
0 |
1
|
TTK
|
0 |
1
|
0 |
1
|
WT1
|
0 |
1
|
0 |
1
|
XRCC1
|
0 |
0 |
1
|
1
|
Condition and significance breakdown #
Condition |
pathogenic |
likely pathogenic |
not provided |
total |
Neoplasm of the large intestine
|
62
|
352
|
5
|
419
|
Lung adenocarcinoma
|
0 |
385
|
1
|
386
|
Gastric adenocarcinoma
|
0 |
360
|
0 |
360
|
Breast neoplasm
|
32
|
321
|
4
|
357
|
Squamous cell carcinoma of the head and neck
|
0 |
330
|
0 |
330
|
Malignant neoplasm of body of uterus
|
0 |
287
|
0 |
287
|
Malignant melanoma of skin
|
0 |
279
|
0 |
279
|
Transitional cell carcinoma of the bladder
|
0 |
276
|
0 |
276
|
Squamous cell lung carcinoma
|
0 |
270
|
0 |
270
|
Hepatocellular carcinoma
|
0 |
253
|
0 |
253
|
Pancreatic adenocarcinoma
|
0 |
242
|
0 |
242
|
Neoplasm of brain
|
0 |
236
|
0 |
236
|
Carcinoma of esophagus
|
0 |
227
|
0 |
227
|
Ovarian serous cystadenocarcinoma
|
0 |
225
|
0 |
225
|
Glioblastoma
|
0 |
221
|
2
|
223
|
Acute myeloid leukemia
|
30
|
162
|
0 |
192
|
Prostate adenocarcinoma
|
0 |
186
|
0 |
186
|
Uterine carcinosarcoma
|
0 |
174
|
0 |
174
|
Melanoma
|
82
|
81
|
3
|
166
|
Multiple myeloma
|
0 |
139
|
0 |
139
|
Neoplasm of uterine cervix
|
0 |
132
|
0 |
132
|
Neoplasm
|
0 |
116
|
0 |
116
|
Squamous cell carcinoma of the skin
|
0 |
107
|
0 |
107
|
B-cell chronic lymphocytic leukemia
|
0 |
103
|
1
|
104
|
Papillary renal cell carcinoma type 1
|
0 |
104
|
0 |
104
|
Small cell lung carcinoma
|
0 |
98
|
0 |
98
|
Non-small cell lung carcinoma
|
40
|
24
|
23
|
87
|
Brainstem glioma
|
0 |
80
|
0 |
80
|
Medulloblastoma
|
1
|
78
|
0 |
79
|
Adrenal cortex carcinoma
|
0 |
65
|
0 |
65
|
Papillary renal cell carcinoma, sporadic
|
0 |
52
|
0 |
52
|
Neuroblastoma
|
12
|
32
|
1
|
45
|
Non-Hodgkin lymphoma
|
0 |
44
|
0 |
44
|
Gastrointestinal stromal tumor
|
5
|
37
|
1
|
43
|
Thyroid tumor
|
19
|
22
|
0 |
41
|
Adenoid cystic carcinoma
|
0 |
39
|
0 |
39
|
Chronic myelogenous leukemia, BCR-ABL1 positive
|
0 |
30
|
4
|
34
|
Myelodysplastic syndrome
|
0 |
31
|
3
|
34
|
Nasopharyngeal neoplasm
|
0 |
27
|
0 |
27
|
Neoplasm of ovary
|
17
|
5
|
2
|
24
|
Gallbladder carcinoma
|
0 |
22
|
0 |
22
|
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
|
0 |
18
|
0 |
18
|
Medullary thyroid carcinoma
|
0 |
18
|
0 |
18
|
Carcinoma
|
0 |
17
|
0 |
17
|
Lymphoblastic leukemia, acute, with lymphomatous features
|
5
|
10
|
1
|
16
|
Endometrium neoplasm
|
0 |
13
|
1
|
14
|
Lung carcinoma
|
6
|
6
|
2
|
14
|
Multiple endocrine neoplasia type 4
|
0 |
14
|
0 |
14
|
Multiple endocrine neoplasia, type 1
|
0 |
14
|
0 |
14
|
Multiple endocrine neoplasia, type 2a
|
0 |
14
|
0 |
14
|
Multiple endocrine neoplasia, type 2b
|
0 |
14
|
0 |
14
|
Hematologic neoplasm
|
0 |
13
|
0 |
13
|
Astrocytoma
|
0 |
12
|
0 |
12
|
Peutz-Jeghers syndrome
|
0 |
10
|
0 |
10
|
Thymoma
|
9
|
1
|
0 |
10
|
Renal carcinoma
|
0 |
9
|
0 |
9
|
Noonan syndrome
|
0 |
8
|
0 |
8
|
Acute megakaryoblastic leukemia
|
0 |
7
|
0 |
7
|
Myeloproliferative disorder
|
0 |
7
|
0 |
7
|
Urinary bladder carcinoma
|
0 |
7
|
0 |
7
|
Head and neck neoplasm
|
0 |
6
|
0 |
6
|
Lymphoma
|
0 |
6
|
0 |
6
|
Neoplasm of stomach
|
0 |
5
|
1
|
6
|
Retinoblastoma
|
0 |
6
|
0 |
6
|
Neoplasm of the pancreas
|
0 |
5
|
0 |
5
|
Uveal melanoma
|
0 |
5
|
0 |
5
|
Craniopharyngioma
|
0 |
4
|
0 |
4
|
Disease
|
0 |
4
|
0 |
4
|
Myeloproliferative neoplasm
|
0 |
4
|
0 |
4
|
Prostate neoplasm
|
0 |
2
|
2
|
4
|
Rhabdomyosarcoma
|
1
|
3
|
0 |
4
|
Colonic neoplasm
|
0 |
3
|
0 |
3
|
Craniosynostosis syndrome
|
0 |
3
|
0 |
3
|
Leukemoid reaction
|
0 |
3
|
0 |
3
|
Malignant tumor of floor of mouth
|
0 |
3
|
0 |
3
|
Squamous cell carcinoma
|
1
|
2
|
0 |
3
|
Acanthosis nigricans
|
0 |
2
|
0 |
2
|
Acquired polycythemia vera
|
0 |
1
|
1
|
2
|
Angiosarcoma
|
0 |
2
|
0 |
2
|
Bone osteosarcoma
|
0 |
1
|
1
|
2
|
Esophageal squamous cell carcinoma
|
0 |
2
|
0 |
2
|
Pilomatrixoma
|
0 |
2
|
0 |
2
|
Primary myelofibrosis
|
0 |
2
|
0 |
2
|
Tumor of parathyroid gland
|
0 |
2
|
0 |
2
|
Acrocephalosyndactyly
|
0 |
1
|
0 |
1
|
Agammaglobulinemia
|
0 |
1
|
0 |
1
|
Basal cell carcinoma
|
1
|
0 |
0 |
1
|
Benign Soft Tissue Neoplasm of Uncertain Differentiation
|
0 |
0 |
1
|
1
|
Carcinoma of pancreas
|
0 |
0 |
1
|
1
|
Cortical senile cataract
|
0 |
1
|
0 |
1
|
Crouzon syndrome
|
0 |
1
|
0 |
1
|
Granulosa cell tumor
|
0 |
0 |
1
|
1
|
Leukemia, acute, X-linked
|
0 |
1
|
0 |
1
|
Mast cell leukemia
|
0 |
1
|
0 |
1
|
Oligodendroglioma
|
0 |
0 |
1
|
1
|
Ovarian adenocarcinoma
|
0 |
1
|
0 |
1
|
Papillary thyroid carcinoma
|
0 |
0 |
1
|
1
|
Severe combined immunodeficiency disease
|
0 |
1
|
0 |
1
|
Subacute lymphoid leukemia
|
0 |
0 |
1
|
1
|
Systemic mast cell disease
|
0 |
1
|
0 |
1
|
Thrombocythemia 1
|
0 |
1
|
0 |
1
|
Trabecular adenocarcinoma
|
0 |
0 |
1
|
1
|
Tumor of meninges
|
0 |
1
|
0 |
1
|
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