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SELECT VARIANTS FROM
EXCLUDE VARIANTS FROM
INDIVIDUALS:
sample_test
blog_spotlight_variants
mm160629ys
mm160627bp
mm160705rp
mm160524rs
06-660
chr22
mm151014ab
mm160243fm
mm160513gm
mm160246mm
ep03-h1a_s1
ep03-h2a_s1
ep03-ma_s1
ep08-pa_s1
1
mm170241ct
mm170237jc
mm170233ac
sample
tsvc_variants_ionxpress_001
tsvc_variants_ionxpress_012
exome_all-b-4639
exome_all-b-4639
v3fullhjm
pc751_s1
gsg197_s1
variants_exome_010
variants_exome_009
controle1_s1
chr22
campjacxx-1-id01 indels_annotated
101368 pass ontarget
101368 ug filtered variants
hp37_5_filt_10x
hp37_filt_10x
hp37_1_filt_10x
sca_c_tsvc_variants_ionxpress_006
21 recalibrated filtered postcgp gqfiltered
22 recalibrated filtered postcgp gqfiltered
23 recalibrated filtered postcgp gqfiltered
24 recalibrated filtered postcgp gqfiltered
21 recalibrated filtered postcgp gqfiltered
we_ex1704916
21 recalibrated filtered postcgp gqfiltered
23 recalibrated filtered postcgp gqfiltered
24 recalibrated filtered postcgp gqfiltered
dt39_s5
dt39_s5
dt104_s1
dt09_s2
hp-01 fil10x
hp-02 fil10x_r
mp91583 both
dg001 final
bipasha passed ontarget variants
suchitra passed ontarget variants
216932
gatk_outputch_s2_dbsnp
zolfaghari
devrim_aydin
gulfidan_aydin
yagmur_aydin
na12878 xlinked
55g_vs_055t_filtered recode 055G
raw-data-23andme-monique_vienne_20181009092915
55g_vs_055t_filtered recode 055T
62415576_s68 mvar 62415576_S68.FREEBAYES
62415576_s68 mvar 62415576_S68.GATK
62415576_s68 mvar 62415576_S68.SAMTOOLS
2636_s28
2761_s29
4450_s11
6306_s1
6343_s27
6422_s23
6424_s25
6426_s21
12016_s26
12030_s5
12061_s9
12066_s20
12067_s13
12068_s19
12078_s17
12083_s14
12086_s22
12092_s33
12107_s6
16420_s8
16431_s7
16441_s18
17503_s31
17507_s32
2632_s12
sy-51_s2
sy-52_s3
2632_s12
6424_s25
12068_s19
otc2919-unique
1581287
1581295
1581298
lb100241 ensemble snp snpeff
lb100241 ensemble indel snpeff
bv2018003 ensemble snp vep
s39-nfe-twist-na12878_s29_l002_001_markdup_deepv_dp3q15filter_combined
sorted-fhuman_g1k_v37 108 rs
d16_0547
pigo annotated 464
pigo annotated 465
pigo annotated 466
pigo annotated 467
1101
12345
1243
12419
h0p2m6
h0p2m6 variants
h0p2m6
recalibrate_180155689_s8_hg38-pass-final
genome_pamela_ferber_v4_full_20180319183645-1-macular_degeneration-1
genome_pamela_ferber_v4_full_20180319183645-1 Mar
genome_pamela_ferber_v4_full_20180319183645-1 19
genome_pamela_ferber_v4_full_20180319183645-1 18:36:45
genome_pamela_ferber_v4_full_20180319183645-1 2018
1154
1224
config
mm190402ijf
mm160117hb
mide
mm190414asm
mm190511sso
5_cx18 combined filtered
tsvc_variants_ionxpress_003
tsvc_variants_ionxpress_003
tsvc_variants_ionxpress_003
amoshahi
amoshahi
dk
gi37_griscelli-syndrome1
mm190733ibo
mm190732lgs
mm190728drf
mm190721cad
mm190706vct
nxsg105exos648490967165-full_variant_table
222
genome_berry_polmann_v5_full_20180308073014
di_1596
123456789
inituname-a
init
SNP LIST:
GROUPS:
all
autism_MMs
CAKUT Group
megaureter family
autism_patients
autism_controls
mm_controles_semBN
UG.G
Mplie
Orig
EXOGR
S316
S316B
group_1.1
SAVED GENE LIST:
CGD_AR
CGD_AR
inac
panel list
vi completo
vi - X
GENE LIST:
ZNF132
INDIVIDUALS:
sample_test
blog_spotlight_variants
mm160629ys
mm160627bp
mm160705rp
mm160524rs
06-660
chr22
mm151014ab
mm160243fm
mm160513gm
mm160246mm
ep03-h1a_s1
ep03-h2a_s1
ep03-ma_s1
ep08-pa_s1
1
mm170241ct
mm170237jc
mm170233ac
sample
tsvc_variants_ionxpress_001
tsvc_variants_ionxpress_012
exome_all-b-4639
exome_all-b-4639
v3fullhjm
pc751_s1
gsg197_s1
variants_exome_010
variants_exome_009
controle1_s1
chr22
campjacxx-1-id01 indels_annotated
101368 pass ontarget
101368 ug filtered variants
hp37_5_filt_10x
hp37_filt_10x
hp37_1_filt_10x
sca_c_tsvc_variants_ionxpress_006
21 recalibrated filtered postcgp gqfiltered
22 recalibrated filtered postcgp gqfiltered
23 recalibrated filtered postcgp gqfiltered
24 recalibrated filtered postcgp gqfiltered
21 recalibrated filtered postcgp gqfiltered
we_ex1704916
21 recalibrated filtered postcgp gqfiltered
23 recalibrated filtered postcgp gqfiltered
24 recalibrated filtered postcgp gqfiltered
dt39_s5
dt39_s5
dt104_s1
dt09_s2
hp-01 fil10x
hp-02 fil10x_r
mp91583 both
dg001 final
bipasha passed ontarget variants
suchitra passed ontarget variants
216932
gatk_outputch_s2_dbsnp
zolfaghari
devrim_aydin
gulfidan_aydin
yagmur_aydin
na12878 xlinked
55g_vs_055t_filtered recode 055G
raw-data-23andme-monique_vienne_20181009092915
55g_vs_055t_filtered recode 055T
62415576_s68 mvar 62415576_S68.FREEBAYES
62415576_s68 mvar 62415576_S68.GATK
62415576_s68 mvar 62415576_S68.SAMTOOLS
2636_s28
2761_s29
4450_s11
6306_s1
6343_s27
6422_s23
6424_s25
6426_s21
12016_s26
12030_s5
12061_s9
12066_s20
12067_s13
12068_s19
12078_s17
12083_s14
12086_s22
12092_s33
12107_s6
16420_s8
16431_s7
16441_s18
17503_s31
17507_s32
2632_s12
sy-51_s2
sy-52_s3
2632_s12
6424_s25
12068_s19
otc2919-unique
1581287
1581295
1581298
lb100241 ensemble snp snpeff
lb100241 ensemble indel snpeff
bv2018003 ensemble snp vep
s39-nfe-twist-na12878_s29_l002_001_markdup_deepv_dp3q15filter_combined
sorted-fhuman_g1k_v37 108 rs
d16_0547
pigo annotated 464
pigo annotated 465
pigo annotated 466
pigo annotated 467
1101
12345
1243
12419
h0p2m6
h0p2m6 variants
h0p2m6
recalibrate_180155689_s8_hg38-pass-final
genome_pamela_ferber_v4_full_20180319183645-1-macular_degeneration-1
genome_pamela_ferber_v4_full_20180319183645-1 Mar
genome_pamela_ferber_v4_full_20180319183645-1 19
genome_pamela_ferber_v4_full_20180319183645-1 18:36:45
genome_pamela_ferber_v4_full_20180319183645-1 2018
1154
1224
config
mm190402ijf
mm160117hb
mide
mm190414asm
mm190511sso
5_cx18 combined filtered
tsvc_variants_ionxpress_003
tsvc_variants_ionxpress_003
tsvc_variants_ionxpress_003
amoshahi
amoshahi
dk
gi37_griscelli-syndrome1
mm190733ibo
mm190732lgs
mm190728drf
mm190721cad
mm190706vct
nxsg105exos648490967165-full_variant_table
222
genome_berry_polmann_v5_full_20180308073014
di_1596
123456789
inituname-a
init
EXCLUDE SNP LIST:
EXCLUDE GROUPS:
all
autism_MMs
CAKUT Group
megaureter family
autism_patients
autism_controls
mm_controles_semBN
UG.G
Mplie
Orig
EXOGR
S316
S316B
group_1.1
EXCLUDE SAVED GENE LIST:
CGD_AR
CGD_AR
inac
panel list
vi completo
vi - X
EXCLUDE GENE LIST:
SELECT INHERITANCE:
RECESSIVE HOMOZYGOUS
RECESSIVE COMPOUND HETEROZYGOUS
DOMINANT HETEROZYGOUS
X-LINKED RECESSIVE HEMIZYGOUS
X-LINKED DOMINANT HETEROZYGOUS
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
HOMOZYGOUS (Ex. 1/1, 2/1, 1/2)
HETEROZYGOUS (Ex. 0/1, 0/2, 1/0, 2/0)
CHR:
POS:
.
PASS
VARIANT EFFECT
FUNCTIONAL CLASS
IMPACT
CDS
CHROMOSOME LARGE DELETION
CODON CHANGE
CODON INSERTION
CODON CHANGE PLUS CODON INSERTION
CODON DELETION
CODON CHANGE PLUS CODON DELETION
DOWNSTREAM
EXON
EXON DELETED
FRAME SHIFT
GENE
INTERGENIC
INTERGENIC CONSERVED
INTRAGENIC
INTRON
INTRON CONSERVED
MICRO RNA
NON SYNONYMOUS CODING
NON SYNONYMOUS START
NON SYNONYMOUS STOP
RARE AMINO ACID
SPLICE SITE ACCEPTOR
SPLICE SITE DONOR
SPLICE SITE REGION
SPLICE SITE BRANCH
SPLICE SITE BRANCH U12
STOP LOST
START GAINED
START LOST
STOP GAINED
SYNONYMOUS CODING
SYNONYMOUS START
SYNONYMOUS STOP
TRANSCRIPT
REGULATION
UPSTREAM
UTR 3 PRIME
UTR 3 DELETED
UTR 5 PRIME
UTR 5 DELETED
NONE
SILENT
MISSENSE
NONSENSE
HIGH
MODERATE
MODIFIER
LOW
DBSNP BUILD:
<=
>=
=
EXCLUDE VARIANTS AT VARISNP
READ DEPTH:
<=
>=
=
QUAL:
<=
>=
=
VARIANTS PER GENE:
<=
>=
=
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD
FREQUENCIES
1000 GENOMES FREQUENCY
EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY
EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY
EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT
SCORES
SIFT SCORE
EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE
EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD
EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP
EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER
|
Save Config
|
Save Analysis
+ Genes 1
Genes:
ZNF132
,
+ Genes associated with diseases
Genes at Omim
Genes at Clinical Genomics Database
Genes at HGMD
Summary
Number of Variants: 4
Number of Genes: 1
Export to:
CSV
Page 1 of 1.
ZNF132
Omim
-
GeneCards
-
NCBI
Options
Individual
Chr
RsId
Pos
Qual
Ref
Alt
Filter
Gen
Read Depth
Effect
Impact
Func Class
1kgenomes
dbSNP
ESP6500
Sift
PP2
CADD
M-CAP
CLINVAR
HI Score
View
hp37_1_filt_10x
19
rs1122955
dbSNP
58946203
204.77
C
T
PASS
0/1
22
NON_SYNONYMOUS_CODING
MODERATE
MISSENSE
0.14617
0.14620
0.17207
0.66
0.00
None None
None None None None
None
View
hp37_1_filt_10x
19
rs1465789
dbSNP
58946056
432.77
G
A
PASS
0/1
35
NON_SYNONYMOUS_CODING
MODERATE
MISSENSE
0.50060
0.50060
0.42434
1.00
0.00
None None
None None None None
None
View
hp37_1_filt_10x
19
rs9941466
dbSNP
58945962
1054.77
C
T
PASS
1/1
45
SYNONYMOUS_CODING
LOW
SILENT
0.95567
0.95570
0.03937
None None
None None None None
None
View
hp37_1_filt_10x
19
rs3764529
dbSNP
58945089
123.77
A
G
PASS
0/1
17
SYNONYMOUS_CODING
LOW
SILENT
0.14976
0.14980
0.17454
None None
None None None None
None
Page 1 of 1.