Name: allfamilies BIR
Variants: 37739
Novel Variants: 430 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION59
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION1
CODON_CHANGE_PLUS_CODON_INSERTION40
CODON_DELETION32
CODON_INSERTION40
CODON_INSERTION+SPLICE_SITE_REGION1
FRAME_SHIFT113
FRAME_SHIFT+SPLICE_SITE_REGION21
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED5
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]5
MOTIF[MA0024.1:E2F1]3
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0047.1:FOXA2]1
MOTIF[MA0058.1:Max]5
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]3
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]5
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0139.1:CTCF]12
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]5
NON_SYNONYMOUS_CODING8530
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION195
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS218
SPLICE_SITE_REGION18
SPLICE_SITE_REGION+SYNONYMOUS_CODING224
START_GAINED124
START_LOST7
STOP_GAINED65
STOP_GAINED+CODON_INSERTION1
STOP_LOST17
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9720
SYNONYMOUS_STOP10
TRANSCRIPT1
None0

Type Total Variants
734
MISSENSE8752
NONSENSE65
SILENT9954
None0

Type Total Variants
HIGH458
LOW10121
MODERATE8898
MODIFIER28
None0

Type Total Variants
PASS37739

Quality Value
Min10.0
Average1025.7532570577
Max3854.15

Read Depth Value
Min5
Average145.28127401361985
Max1960

Type Total Variants
None0

Chromossome Total Variants
13984
101614
112610
121870
13705
141160
151211
161643
172282
18572
192717
22555
20878
21499
22839
32103
41429
51633
62169
71725
81394
91500
X646
Y1