Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv |
|
Neoplasms | 0.020 | 0.500 | 2 | 2005 | 2011 | ||||||||
|
0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.882 | 0.120 | 10 | 87864162 | 5 prime UTR variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 87925886 | intron variant | T/C | snv | 0.14 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 10 | 87965286 | splice acceptor variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | ||||||||||
|
0.882 | 0.320 | 10 | 87957958 | stop gained | T/A;C;G | snv | 4.0E-06 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 10 | 2004 | 2012 | ||||||||
|
1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 1999 | 2010 | ||||||||
|
1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 87933012 | splice acceptor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 87957893 | stop gained | T/C;G | snv |
|
Neoplasms | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 10 | 87957893 | stop gained | T/C;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.200 | 10 | 87864510 | frameshift variant | -/GA | delins |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 87958019 | splice donor variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 1998 | 2011 | ||||||||
|
1.000 | 0.080 | 10 | 87925547 | frameshift variant | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 10 | 87952254 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |