Name: anemia
Variants: 30726
Novel Variants: 80 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 30726 18576 0/1 12150 1/1
Total Gene-associated SNVs 30726 18576 0/1 12150 1/1

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION48
CODON_CHANGE_PLUS_CODON_INSERTION33
CODON_DELETION23
CODON_INSERTION31
FRAME_SHIFT106
FRAME_SHIFT+SPLICE_SITE_REGION24
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED3
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]1
MOTIF[MA0014.1:Pax5]1
MOTIF[MA0024.1:E2F1]1
MOTIF[MA0058.1:Max]1
MOTIF[MA0062.2:Gabp]2
MOTIF[MA0065.1:PPARG]1
MOTIF[MA0114.1:HNF4A]1
MOTIF[MA0139.1:CTCF]11
NON_SYNONYMOUS_CODING7315
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION174
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS225
SPLICE_SITE_REGION12
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_DELETION3
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING199
START_GAINED50
START_LOST3
STOP_GAINED41
STOP_LOST13
STOP_LOST+SPLICE_SITE_REGION2
SYNONYMOUS_CODING8899
SYNONYMOUS_STOP4
None0

Type Total Variants
587
MISSENSE7507
NONSENSE41
SILENT9102
None0

Type Total Variants
HIGH425
LOW9170
MODERATE7629
MODIFIER13
None0

Type Total Variants
Mask30726

Quality Value
Min30.04
Average1980.45579281389
Max31444.52

Read Depth Value
Min10
Average98.63207055913558
Max250

Type Total Variants
None0
22
31

Chromossome Total Variants
13112
101359
112100
121544
13551
141125
151023
161207
171872
18490
192226
22017
20830
21435
22772
31763
41269
51363
61655
71322
81010
91271
X408
Y2