Name: 5500xl_23312002_2013_06_25_exomas16_2h495 processed recal
Variants: 73623
Novel Variants: 4410 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 73623 44803 0/1 28784 1/1 36 1/2
Total Gene-associated SNVs 73623 44803 0/1 28784 1/1 36 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION145
CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION5
CODON_CHANGE_PLUS_CODON_INSERTION87
CODON_CHANGE_PLUS_CODON_INSERTION+SPLICE_SITE_REGION1
CODON_DELETION89
CODON_DELETION+SPLICE_SITE_REGION3
CODON_INSERTION82
CODON_INSERTION+SPLICE_SITE_REGION5
FRAME_SHIFT954
FRAME_SHIFT+SPLICE_SITE_REGION67
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED17
FRAME_SHIFT+STOP_LOST5
GENE_FUSION_REVERESE1
MOTIF_DELETED3
MOTIF[MA0003.1:Ap2alpha]3
MOTIF[MA0014.1:Pax5]1
MOTIF[MA0016.1:RXRA]1
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0036.1:Gata2]2
MOTIF[MA0047.1:FOXA2]2
MOTIF[MA0058.1:Max]6
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]1
MOTIF[MA0062.2:Gabp]11
MOTIF[MA0065.2:PPARG]2
MOTIF[MA0079.1:SP1]3
MOTIF[MA0079.2:SP1]6
MOTIF[MA0080.2:PU1]1
MOTIF[MA0093.1:USF1]1
MOTIF[MA0095.1:Yy1]2
MOTIF[MA0099.2:AP1]2
MOTIF[MA0114.1:HNF4A]3
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]2
MOTIF[MA0139.1:CTCF]36
MOTIF[MA0147.1:Cmyc]4
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]9
NON_SYNONYMOUS_CODING9257
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION221
PROTEIN_PROTEIN_INTERACTION_LOCUS5
PROTEIN_STRUCTURAL_INTERACTION_LOCUS244
SPLICE_SITE_REGION27
SPLICE_SITE_REGION+SYNONYMOUS_CODING223
START_GAINED144
START_LOST11
START_LOST+CODON_CHANGE_PLUS_CODON_INSERTION1
START_LOST+CODON_DELETION1
STOP_GAINED99
STOP_GAINED+CODON_CHANGE_PLUS_CODON_DELETION2
STOP_GAINED+CODON_CHANGE_PLUS_CODON_INSERTION3
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION3
STOP_LOST19
STOP_LOST+CODON_DELETION1
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9973
SYNONYMOUS_STOP10
None0

Type Total Variants
2001
MISSENSE9511
NONSENSE102
SILENT10206
None0

Type Total Variants
HIGH1441
LOW10428
MODERATE9895
MODIFIER56
None0

Type Total Variants
PASS71688
VQSRTrancheINDEL99.90to100.00844
VQSRTrancheSNP99.90to100.001091

Quality Value
Min30.41
Average438424.506780214
Max2147483618.77

Read Depth Value
Min0
Average55.96195482390014
Max357

Type Total Variants
None0

Chromossome Total Variants
17044
103201
114500
123880
131457
142708
152496
162933
174048
181324
194349
25531
201796
21986
221544
34194
43168
53325
64591
73691
82802
92785
X1261
Y9