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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
1.000 | 0.080 | 2 | 214728968 | frameshift variant | CCCAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 |
|
Neoplasms | 0.820 | 1.000 | 4 | 2009 | 2019 | |||||||
|
0.827 | 0.160 | 2 | 214807822 | intron variant | G/A;C;T | snv |
|
Neoplasms | 0.830 | 1.000 | 4 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 2 | 214730416 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 4 | 2004 | 2017 | ||||||||
|
0.882 | 0.080 | 2 | 214778776 | intron variant | C/T | snv | 0.16 |
|
Neoplasms | 0.810 | 1.000 | 3 | 2009 | 2019 | |||||||
|
0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 3 | 2010 | 2016 | ||||||||
|
0.827 | 0.160 | 2 | 214807822 | intron variant | G/A;C;T | snv |
|
Neoplasms; Nervous System Diseases | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.827 | 0.160 | 2 | 214807822 | intron variant | G/A;C;T | snv |
|
Neoplasms | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||||||
|
0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | ||||||||
|
0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | ||||||||
|
1.000 | 0.080 | 2 | 214752424 | splice donor variant | CCAAAGCTAAATCCATACTTACTAC/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214809411 | splice donor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 214781510 | splice acceptor variant | C/A | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 |
|
Neoplasms; Nervous System Diseases | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | ||||||||
|
0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2003 | 2006 | ||||||||
|
0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins |
|
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 | 2 | 2010 | 2012 | ||||||||
|
0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
2 | 214781251 | frameshift variant | T/-;TT | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 2015 | 2016 | ||||||||||
|
1.000 | 0.040 | 2 | 214789163 | intron variant | T/A;C | snv |
|
Neoplasms | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
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 |