Mendel,MD | Dashboard

Name: kuhno_1-10 up_218_6.variant
Variants: 52938
Novel Variants: 1368 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	52938	32071 0/1	60 0/2	2 0/3	2 0/4	20440 1/1	251 1/2	6 1/3	41 2/1	45 2/2	8 2/3	1 2/4	4 3/1	5 3/2	1 3/4	1 5/2
Total Gene-associated SNVs	52938	32071 0/1	60 0/2	2 0/3	2 0/4	20440 1/1	251 1/2	6 1/3	41 2/1	45 2/2	8 2/3	1 2/4	4 3/1	5 3/2	1 3/4	1 5/2

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	63
CODON_CHANGE_PLUS_CODON_INSERTION	40
CODON_DELETION	30
CODON_INSERTION	40
FRAME_SHIFT	179
FRAME_SHIFT+SPLICE_SITE_REGION	30
FRAME_SHIFT+START_LOST	2
FRAME_SHIFT+STOP_GAINED	2
FRAME_SHIFT+STOP_LOST	3
MOTIF[MA0003.1:Ap2alpha]	8
MOTIF[MA0024.1:E2F1]	3
MOTIF[MA0058.1:Max]	7
MOTIF[MA0062.1:Gabp]	2
MOTIF[MA0062.2:Gabp]	9
MOTIF[MA0079.1:SP1]	1
MOTIF[MA0079.2:SP1]	4
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0093.1:USF1]	1
MOTIF[MA0095.1:Yy1]	3
MOTIF[MA0114.1:HNF4A]	2
MOTIF[MA0138.2:Nrsf]	1
MOTIF[MA0139.1:CTCF]	27
MOTIF[MA0154.1:EBF]	1
MOTIF[MA0159.1:RXR]	1
MOTIF[MA0162.1:Egr1]	8
NON_SYNONYMOUS_CODING	9362
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	196
PROTEIN_PROTEIN_INTERACTION_LOCUS	1
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	140
SPLICE_SITE_REGION	23
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION	1
SPLICE_SITE_REGION+CODON_INSERTION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	244
START_GAINED	153
START_LOST	8
STOP_GAINED	58
STOP_LOST	20
STOP_LOST+SPLICE_SITE_REGION	2
SYNONYMOUS_CODING	10405
SYNONYMOUS_STOP	8
TRANSCRIPT	1
None	0

Type	Total Variants
None	0

Type	Total Variants
PASS	52938