Mendel,MD | Dashboard

Name: manuela_niro
Variants: 31098
Novel Variants: 1156 (Not in latest DbSNP Build)

Type	Total Variants
Total SNVs	31098	26388 0/1	40 0/2	2 0/3	4322 1/1	264 1/2	12 1/3	59 2/2	10 2/3	1 3/3
Total Gene-associated SNVs	31098	26388 0/1	40 0/2	2 0/3	4322 1/1	264 1/2	12 1/3	59 2/2	10 2/3	1 3/3

Type	Total Variants
CODON_CHANGE_PLUS_CODON_DELETION	41
CODON_CHANGE_PLUS_CODON_INSERTION	18
CODON_DELETION	20
CODON_INSERTION	25
FRAME_SHIFT	108
FRAME_SHIFT+SPLICE_SITE_REGION	8
MOTIF[MA0003.1:Ap2alpha]	5
MOTIF[MA0058.1:Max]	1
MOTIF[MA0059.1:Cmyc]	1
MOTIF[MA0062.1:Gabp]	2
MOTIF[MA0062.2:Gabp]	9
MOTIF[MA0079.1:SP1]	1
MOTIF[MA0079.2:SP1]	2
MOTIF[MA0080.1:PU1]	1
MOTIF[MA0093.1:USF1]	2
MOTIF[MA0095.1:Yy1]	2
MOTIF[MA0139.1:CTCF]	16
MOTIF[MA0148.1:FOXA1]	1
MOTIF[MA0154.1:EBF]	2
MOTIF[MA0159.1:RXR]	1
MOTIF[MA0162.1:Egr1]	4
NON_SYNONYMOUS_CODING	5419
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	117
PROTEIN_PROTEIN_INTERACTION_LOCUS	3
PROTEIN_STRUCTURAL_INTERACTION_LOCUS	109
SPLICE_SITE_REGION	11
SPLICE_SITE_REGION+CODON_DELETION	1
SPLICE_SITE_REGION+SYNONYMOUS_CODING	124
START_GAINED	89
START_LOST	9
START_LOST+CODON_CHANGE_PLUS_CODON_DELETION	1
STOP_GAINED	53
STOP_GAINED+CODON_INSERTION	1
STOP_GAINED+SPLICE_SITE_REGION	1
STOP_LOST	4
STOP_LOST+SPLICE_SITE_REGION	1
SYNONYMOUS_CODING	5990
SYNONYMOUS_STOP	6
None	0

Type	Total Variants
None	0

Type	Total Variants
PASS	31098