Name: schinzel_giedion
Variants: 37299
Novel Variants: 217 (Not in latest DbSNP Build)
| Type | Total Variants |
|---|---|
| CODON_CHANGE_PLUS_CODON_DELETION | 71 |
| CODON_CHANGE_PLUS_CODON_INSERTION | 43 |
| CODON_DELETION | 22 |
| CODON_INSERTION | 33 |
| FRAME_SHIFT | 92 |
| FRAME_SHIFT+SPLICE_SITE_REGION | 22 |
| FRAME_SHIFT+START_LOST | 3 |
| FRAME_SHIFT+STOP_GAINED | 2 |
| GENE_FUSION | 1 |
| MOTIF[MA0016.1:RXRA] | 1 |
| MOTIF[MA0024.1:E2F1] | 1 |
| MOTIF[MA0058.1:Max] | 3 |
| MOTIF[MA0062.1:Gabp] | 2 |
| MOTIF[MA0062.2:Gabp] | 4 |
| MOTIF[MA0079.2:SP1] | 3 |
| MOTIF[MA0080.1:PU1] | 1 |
| MOTIF[MA0095.1:Yy1] | 2 |
| MOTIF[MA0099.1:Cfos] | 1 |
| MOTIF[MA0099.2:AP1] | 2 |
| MOTIF[MA0139.1:CTCF] | 18 |
| MOTIF[MA0162.1:Egr1] | 5 |
| NON_SYNONYMOUS_CODING | 4926 |
| NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | 117 |
| PROTEIN_PROTEIN_INTERACTION_LOCUS | 2 |
| PROTEIN_STRUCTURAL_INTERACTION_LOCUS | 147 |
| SPLICE_SITE_REGION | 13 |
| SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION | 1 |
| SPLICE_SITE_REGION+CODON_DELETION | 2 |
| SPLICE_SITE_REGION+CODON_INSERTION | 1 |
| SPLICE_SITE_REGION+SYNONYMOUS_CODING | 109 |
| START_GAINED | 59 |
| START_LOST | 3 |
| STOP_GAINED | 47 |
| STOP_LOST | 5 |
| SYNONYMOUS_CODING | 5564 |
| SYNONYMOUS_STOP | 4 |
| None | 0 |
| Type | Total Variants |
|---|---|
| PASS | 37299 |
| Quality | Value |
|---|---|
| Min | 50.01 |
| Average | 449.890479101316 |
| Max | 17882.36 |
| Read Depth | Value |
|---|---|
| Min | 4 |
| Average | 32.761468135874956 |
| Max | 250 |
| Type | Total Variants |
|---|---|
| None | 0 |