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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.040 | 17 | 58692526 | upstream gene variant | G/A;C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.925 | 0.040 | 17 | 58692526 | upstream gene variant | G/A;C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 17 | 58692674 | stop gained | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 58692691 | frameshift variant | T/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 17 | 58692716 | frameshift variant | G/TTC | delins |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 2011 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
0.700 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.200 | 17 | 58692733 | frameshift variant | G/- | delins | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.200 | 17 | 58692740 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2015 | 2016 | |||||||
|
0.882 | 0.200 | 17 | 58692740 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.700 | 1.000 | 3 | 2015 | 2016 | |||||||
|
1.000 | 17 | 58692740 | frameshift variant | CA/- | del |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.882 | 0.200 | 17 | 58692740 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.200 | 17 | 58692740 | stop gained | C/T | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 17 | 58692778 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 17 | 58692789 | splice donor variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 3 | 2010 | 2014 | |||||||||
|
1.000 | 17 | 58692789 | splice donor variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
1.000 | 17 | 58692790 | splice donor variant | TAACGA/CTAAG | delins |
|
0.700 | 1.000 | 3 | 2010 | 2014 | ||||||||||
|
0.925 | 17 | 58692790 | splice donor variant | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 17 | 58692790 | splice donor variant | T/G | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.040 | 17 | 58693735 | 3 prime UTR variant | C/T | snv | 0.17 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.040 | 17 | 58693735 | 3 prime UTR variant | C/T | snv | 0.17 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
17 | 58694927 | splice acceptor variant | TCA/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 58694929 | splice acceptor variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 | |||||||||||||
|
17 | 58694943 | frameshift variant | C/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 0 |