Name: 20163-01-01_s18-kopie
Variants: 468
Novel Variants: 7 (Not in latest DbSNP Build)

Type Total Variants
Total SNVs 468 355 0/1 110 1/1 3 1/2
Total Gene-associated SNVs 468 355 0/1 110 1/1 3 1/2

Type Total Variants
CODON_DELETION1
FRAME_SHIFT3
MOTIF[MA0014.1:Pax5]1
MOTIF[MA0058.1:Max]1
MOTIF[MA0062.2:Gabp]3
NON_SYNONYMOUS_CODING122
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION3
SPLICE_SITE_REGION2
SPLICE_SITE_REGION+SYNONYMOUS_CODING3
START_GAINED1
STOP_GAINED1
SYNONYMOUS_CODING100
None0

Type Total Variants
12
MISSENSE125
NONSENSE1
SILENT103
None0

Type Total Variants
HIGH4
LOW107
MODERATE126
MODIFIER4
None0

Type Total Variants
LowGQX;LowGQ;R8;SB;LowDP1
LowVariantFreq22
LowVariantFreq;R811
PASS412
R819
R8;SB1
SB2

Quality Value
Min17.38
Average9171.5257051282
Max75021.95

Read Depth Value
Min19
Average653.6004273504274
Max1818

Type Total Variants
None0

Chromossome Total Variants
159
1014
1112
127
131
1429
154
16118
1745
183
1921
220
202
214
221
321
41
538
69
737
87
98
X7