Name: sleepdisorders_saxena_sleep_exome_
Variants: 160830
Novel Variants: 157236 (Not in latest DbSNP Build)
| Type | Total Variants | |||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total SNVs | 160830 | 95130 0/1 | 5620 0/2 | 1341 0/3 | 485 0/4 | 195 0/5 | 96 0/6 | 53933 1/1 | 1320 1/2 | 332 1/3 | 174 1/4 | 78 1/5 | 33 1/6 | 766 2/2 | 462 2/3 | 165 2/4 | 92 2/5 | 43 2/6 | 138 3/3 | 134 3/4 | 53 3/5 | 29 3/6 | 62 4/4 | 44 4/5 | 32 4/6 | 29 5/5 | 22 5/6 | 22 6/6 |
| Total Gene-associated SNVs | 160830 | 95130 0/1 | 5620 0/2 | 1341 0/3 | 485 0/4 | 195 0/5 | 96 0/6 | 53933 1/1 | 1320 1/2 | 332 1/3 | 174 1/4 | 78 1/5 | 33 1/6 | 766 2/2 | 462 2/3 | 165 2/4 | 92 2/5 | 43 2/6 | 138 3/3 | 134 3/4 | 53 3/5 | 29 3/6 | 62 4/4 | 44 4/5 | 32 4/6 | 29 5/5 | 22 5/6 | 22 6/6 |
| Type | Total Variants |
|---|---|
| 1047 | |
| CODON_CHANGE_PLUS_CODON_DELETION | 22 |
| CODON_CHANGE_PLUS_CODON_INSERTION | 14 |
| CODON_DELETION | 17 |
| CODON_INSERTION | 16 |
| FRAME_SHIFT | 638 |
| FRAME_SHIFT+SPLICE_SITE_REGION | 20 |
| FRAME_SHIFT+START_LOST | 2 |
| FRAME_SHIFT+STOP_GAINED | 12 |
| FRAME_SHIFT+STOP_LOST | 3 |
| MOTIF_DELETED | 2 |
| MOTIF[MA0003.1:Ap2alpha] | 11 |
| MOTIF[MA0014.1:Pax5] | 2 |
| MOTIF[MA0016.1:RXRA] | 3 |
| MOTIF[MA0024.1:E2F1] | 1 |
| MOTIF[MA0035.2:Gata1] | 2 |
| MOTIF[MA0036.1:Gata2] | 1 |
| MOTIF[MA0047.2:FOXA2] | 3 |
| MOTIF[MA0058.1:Max] | 15 |
| MOTIF[MA0059.1:Cmyc] | 8 |
| MOTIF[MA0062.1:Gabp] | 2 |
| MOTIF[MA0062.2:Gabp] | 13 |
| MOTIF[MA0065.1:PPARG] | 3 |
| MOTIF[MA0065.2:PPARG] | 1 |
| MOTIF[MA0079.1:SP1] | 2 |
| MOTIF[MA0079.2:SP1] | 11 |
| MOTIF[MA0080.2:PU1] | 9 |
| MOTIF[MA0083.1:Srf] | 1 |
| MOTIF[MA0093.1:USF1] | 9 |
| MOTIF[MA0095.1:Yy1] | 3 |
| MOTIF[MA0099.1:Cfos] | 2 |
| MOTIF[MA0099.2:AP1] | 4 |
| MOTIF[MA0114.1:HNF4A] | 11 |
| MOTIF[MA0138.2:Nrsf] | 8 |
| MOTIF[MA0139.1:CTCF] | 101 |
| MOTIF[MA0147.1:Cmyc] | 13 |
| MOTIF[MA0148.1:FOXA1] | 4 |
| MOTIF[MA0154.1:EBF] | 5 |
| MOTIF[MA0159.1:RXR] | 7 |
| MOTIF[MA0162.1:Egr1] | 8 |
| NON_SYNONYMOUS_CODING | 2114 |
| NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION | 65 |
| NON_SYNONYMOUS_START | 1 |
| PROTEIN_PROTEIN_INTERACTION_LOCUS | 1 |
| PROTEIN_STRUCTURAL_INTERACTION_LOCUS | 78 |
| SPLICE_SITE_REGION | 12 |
| SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_INSERTION | 1 |
| SPLICE_SITE_REGION+SYNONYMOUS_CODING | 39 |
| START_GAINED | 55 |
| START_LOST | 4 |
| STOP_GAINED | 94 |
| STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION | 2 |
| STOP_GAINED+CODON_INSERTION | 1 |
| STOP_GAINED+SPLICE_SITE_REGION | 6 |
| STOP_LOST | 5 |
| STOP_LOST+CODON_DELETION | 1 |
| SYNONYMOUS_CODING | 1695 |
| SYNONYMOUS_START | 3 |
| SYNONYMOUS_STOP | 2 |
| None | 0 |
| Type | Total Variants |
|---|---|
| ExcessHet | 9653 |
| PASS | 138419 |
| VQSRTrancheINDEL95.00to96.00 | 472 |
| VQSRTrancheINDEL96.00to97.00 | 190 |
| VQSRTrancheINDEL97.00to99.00 | 192 |
| VQSRTrancheINDEL99.00to99.50 | 503 |
| VQSRTrancheINDEL99.50to99.90 | 973 |
| VQSRTrancheINDEL99.90to99.95 | 58 |
| VQSRTrancheINDEL99.95to100.00 | 41 |
| VQSRTrancheSNP99.70to99.80 | 2171 |
| VQSRTrancheSNP99.80to99.90 | 2987 |
| VQSRTrancheSNP99.90to99.95 | 2282 |
| VQSRTrancheSNP99.95to100.00 | 2889 |
| Quality | Value |
|---|---|
| Min | 30.01 |
| Average | 32892.2080863647 |
| Max | 13149710.27 |
| Read Depth | Value |
|---|---|
| Min | 0 |
| Average | 0.0 |
| Max | 0 |
| Type | Total Variants |
|---|---|
| None | 0 |