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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 214792327 | stop gained | G/A;T | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.925 | 0.200 | 2 | 214797118 | splice acceptor variant | C/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214797099 | frameshift variant | TC/- | delins | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 2 | 214797099 | frameshift variant | TC/- | delins | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 2 | 214762673 | intron variant | A/G | snv | 0.42 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 2 | 214754055 | intron variant | A/G | snv | 0.31 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 214728911 | frameshift variant | C/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 214728931 | frameshift variant | -/T | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.080 | 2 | 214767643 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
2 | 214780662 | stop gained | -/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.080 | 2 | 214797092 | frameshift variant | A/- | del |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||||||
|
1.000 | 0.040 | 2 | 214730921 | non coding transcript exon variant | C/T | snv | 0.30 | 0.26 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1.000 | 0.040 | 2 | 214751984 | intron variant | C/T | snv | 0.49 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 214780662 | stop gained | G/C | snv | 4.0E-06 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.827 | 0.160 | 2 | 214807822 | intron variant | G/A;C;T | snv |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 2 | 214802180 | intron variant | T/C | snv | 0.27 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 2 | 214808716 | intron variant | T/A;C | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 2 | 214769903 | 3 prime UTR variant | C/T | snv | 0.44 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 2 | 214764598 | intron variant | A/G | snv | 0.41 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 2 | 214781413 | frameshift variant | -/TCTT | delins | 4.0E-06 | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 214728742 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 214728861 | frameshift variant | TG/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.200 | 2 | 214780669 | stop gained | G/C;T | snv | 8.0E-06 |
|
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 | 2017 | 2017 | |||||||
|
2 | 214781246 | frameshift variant | TT/- | delins | 4.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 2 | 214735533 | intron variant | G/A | snv | 0.34 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2009 | 2009 |