Name: aghdas_dehghani qualified
Variants: 121054
Novel Variants: 2247 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 121054 73121 0/1 47664 1/1 269 1/2
Total Gene-associated SNVs 121054 73121 0/1 47664 1/1 269 1/2

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION136
CODON_CHANGE_PLUS_CODON_INSERTION84
CODON_DELETION65
CODON_INSERTION67
FRAME_SHIFT311
FRAME_SHIFT+SPLICE_SITE_REGION35
FRAME_SHIFT+START_LOST3
FRAME_SHIFT+STOP_GAINED10
FRAME_SHIFT+STOP_LOST1
GENE_FUSION_REVERESE1
MOTIF_DELETED4
MOTIF[MA0003.1:Ap2alpha]8
MOTIF[MA0014.1:Pax5]6
MOTIF[MA0016.1:RXRA]2
MOTIF[MA0024.1:E2F1]4
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]12
MOTIF[MA0059.1:Cmyc]1
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]14
MOTIF[MA0065.2:PPARG]1
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]11
MOTIF[MA0080.1:PU1]1
MOTIF[MA0093.1:USF1]6
MOTIF[MA0095.1:Yy1]4
MOTIF[MA0099.1:Cfos]1
MOTIF[MA0114.1:HNF4A]4
MOTIF[MA0138.1:Nrsf]1
MOTIF[MA0138.2:Nrsf]1
MOTIF[MA0139.1:CTCF]74
MOTIF[MA0140.1:Tal1]1
MOTIF[MA0147.1:Cmyc]4
MOTIF[MA0148.1:FOXA1]1
MOTIF[MA0154.1:EBF]2
MOTIF[MA0162.1:Egr1]18
NON_SYNONYMOUS_CODING11024
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION239
NON_SYNONYMOUS_START2
PROTEIN_PROTEIN_INTERACTION_LOCUS2
PROTEIN_STRUCTURAL_INTERACTION_LOCUS243
SPLICE_SITE_REGION30
SPLICE_SITE_REGION+CODON_DELETION2
SPLICE_SITE_REGION+CODON_INSERTION3
SPLICE_SITE_REGION+SYNONYMOUS_CODING244
START_GAINED205
START_LOST10
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION1
STOP_GAINED114
STOP_GAINED+CODON_INSERTION2
STOP_GAINED+SPLICE_SITE_REGION1
STOP_LOST25
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING11465
SYNONYMOUS_STOP13
TRANSCRIPT2
None0

Type Total Variants
1389
MISSENSE11303
NONSENSE115
SILENT11722
None0

Type Total Variants
HIGH762
LOW12046
MODERATE11620
MODIFIER101
None0

Type Total Variants
PASS121054

Quality Value
Min30.37
Average874.321902456812
Max65619.77

Read Depth Value
Min0
Average47.403084573826554
Max2167

Type Total Variants
None0

Chromossome Total Variants
110949
105397
117159
126005
132238
143991
154201
165103
176439
182113
197297
28848
203312
212401
222683
37009
45321
55056
67580
76416
84177
94716
MT8
X2194
Y441