Name: myexome-1 annotated mendelmd
Variants: 142953
Novel Variants: 1030 (Not in latest DbSNP Build)
Type | Total Variants |
---|---|
CODON_CHANGE_PLUS_CODON_DELETION | 201 |
CODON_CHANGE_PLUS_CODON_INSERTION | 129 |
CODON_DELETION | 76 |
CODON_INSERTION | 103 |
FRAME_SHIFT | 443 |
FRAME_SHIFT+SPLICE_SITE_REGION | 71 |
FRAME_SHIFT+START_LOST | 7 |
FRAME_SHIFT+STOP_GAINED | 7 |
FRAME_SHIFT+STOP_LOST | 6 |
GENE_FUSION | 1 |
GENE_FUSION_REVERESE | 3 |
MOTIF_DELETED | 4 |
MOTIF[MA0003.1:Ap2alpha] | 23 |
MOTIF[MA0016.1:RXRA] | 1 |
MOTIF[MA0024.1:E2F1] | 1 |
MOTIF[MA0035.2:Gata1] | 4 |
MOTIF[MA0036.1:Gata2] | 2 |
MOTIF[MA0058.1:Max] | 12 |
MOTIF[MA0059.1:Cmyc] | 4 |
MOTIF[MA0062.1:Gabp] | 7 |
MOTIF[MA0062.2:Gabp] | 28 |
MOTIF[MA0065.1:PPARG] | 1 |
MOTIF[MA0065.2:PPARG] | 2 |
MOTIF[MA0079.1:SP1] | 2 |
MOTIF[MA0079.2:SP1] | 21 |
MOTIF[MA0080.1:PU1] | 2 |
MOTIF[MA0080.2:PU1] | 3 |
MOTIF[MA0093.1:USF1] | 4 |
MOTIF[MA0095.1:Yy1] | 16 |
MOTIF[MA0099.2:AP1] | 2 |
MOTIF[MA0114.1:HNF4A] | 6 |
MOTIF[MA0138.2:Nrsf] | 5 |
MOTIF[MA0139.1:CTCF] | 79 |
MOTIF[MA0140.1:Tal1] | 2 |
MOTIF[MA0147.1:Cmyc] | 8 |
MOTIF[MA0154.1:EBF] | 1 |
MOTIF[MA0159.1:RXR] | 3 |
MOTIF[MA0162.1:Egr1] | 29 |
NON_SYNONYMOUS_CODING | 17341 |
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | 376 |
PROTEIN_PROTEIN_INTERACTION_LOCUS | 7 |
PROTEIN_STRUCTURAL_INTERACTION_LOCUS | 399 |
SPLICE_SITE_REGION | 40 |
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION | 1 |
SPLICE_SITE_REGION+CODON_INSERTION | 2 |
SPLICE_SITE_REGION+SYNONYMOUS_CODING | 370 |
START_GAINED | 341 |
START_LOST | 18 |
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION | 2 |
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION | 2 |
START_LOST+CODON_DELETION | 2 |
STOP_GAINED | 162 |
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION | 2 |
STOP_GAINED+CODON_INSERTION | 1 |
STOP_GAINED+SPLICE_SITE_REGION | 1 |
STOP_LOST | 35 |
STOP_LOST+SPLICE_SITE_REGION | 4 |
SYNONYMOUS_CODING | 18502 |
SYNONYMOUS_STOP | 7 |
TRANSCRIPT | 2 |
None | 0 |
Type | Total Variants |
---|---|
None | 0 |
Quality | Value |
---|---|
Min | 30.04 |
Average | 1051.0803998525 |
Max | 25283.77 |
Read Depth | Value |
---|---|
Min | 0 |
Average | 53.66393150196218 |
Max | 802 |