Name: combined sample_49.variant13
Variants: 165370
Novel Variants: 5452 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION136
CODON_CHANGE_PLUS_CODON_INSERTION110
CODON_DELETION53
CODON_INSERTION108
FRAME_SHIFT348
FRAME_SHIFT+SPLICE_SITE_REGION46
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED7
FRAME_SHIFT+STOP_LOST6
GENE_FUSION1
GENE_FUSION_REVERESE2
MOTIF_DELETED13
MOTIF[MA0003.1:Ap2alpha]42
MOTIF[MA0014.1:Pax5]8
MOTIF[MA0016.1:RXRA]5
MOTIF[MA0024.1:E2F1]9
MOTIF[MA0035.2:Gata1]3
MOTIF[MA0036.1:Gata2]3
MOTIF[MA0047.1:FOXA2]2
MOTIF[MA0047.2:FOXA2]1
MOTIF[MA0058.1:Max]17
MOTIF[MA0059.1:Cmyc]8
MOTIF[MA0062.1:Gabp]17
MOTIF[MA0062.2:Gabp]46
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0074.1:RXRA]1
MOTIF[MA0079.1:SP1]12
MOTIF[MA0079.2:SP1]56
MOTIF[MA0080.1:PU1]4
MOTIF[MA0080.2:PU1]4
MOTIF[MA0083.1:Srf]2
MOTIF[MA0093.1:USF1]6
MOTIF[MA0095.1:Yy1]16
MOTIF[MA0099.1:Cfos]2
MOTIF[MA0099.2:AP1]5
MOTIF[MA0114.1:HNF4A]14
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]10
MOTIF[MA0139.1:CTCF]109
MOTIF[MA0140.1:Tal1]2
MOTIF[MA0147.1:Cmyc]17
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]6
MOTIF[MA0159.1:RXR]1
MOTIF[MA0162.1:Egr1]93
MOTIF[MA0239.1:Pax5]1
NON_SYNONYMOUS_CODING12534
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION252
NON_SYNONYMOUS_START3
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS278
SPLICE_SITE_REGION133
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION2
SPLICE_SITE_REGION+CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING302
START_GAINED638
START_LOST13
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED125
STOP_GAINED+CODON_INSERTION1
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST29
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING12629
SYNONYMOUS_STOP12
TRANSCRIPT8
None0

Type Total Variants
2425
MISSENSE12833
NONSENSE128
SILENT12943
None0

Type Total Variants
HIGH868
LOW13997
MODERATE13197
MODIFIER267
None0

Type Total Variants
DRAGENHardINDEL93
DRAGENHardSNP1225
PASS164052

Quality Value
Min30.01
Average1591.92882784061
Max160266.0

Read Depth Value
Min0
Average81.13941464594545
Max4276

Type Total Variants
None0
2|21
24

Chromossome Total Variants
116427
106856
1110177
129049
133021
145382
155826
166747
179021
183214
1911389
211574
204134
212520
223787
39383
47043
57183
68655
78560
86118
96891
X2260
Y153