SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 0

Export to: CSV
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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 combined sample_47.variant11 4 rs28715304
dbSNP Clinvar
186391759 204.86 G A PASS 0/1 29 MOTIF[MA0014.1:Pax5] MODIFIER None 0.36222 0.36220 None None None None None None CCDC110|0.025241211|71.69%
View combined sample_47.variant11 1 rs56375229
dbSNP Clinvar
120612154 1568.54 C G PASS 0/1 306 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None NOTCH2|0.911167567|3.21%
View combined sample_47.variant11 1 rs55899574
dbSNP Clinvar
120612163 1581.53 C A PASS 0/1 293 MOTIF[MA0014.1:Pax5] MODIFIER None None None None None None None NOTCH2|0.911167567|3.21%
View combined sample_47.variant11 17 rs4792315
dbSNP Clinvar
12921348 784.1 G C PASS 0/1 87 MOTIF[MA0014.1:Pax5] MODIFIER None 0.09046 0.09046 None None None None None None ELAC2|0.054237748|61.4%
View combined sample_47.variant11 1 . 200639023 1395.66 TG... T,... PASS 0/2 100 MOTIF[MA0014.1:Pax5] LOW None None None None None None None DDX59|0.015678189|76.66%
View combined sample_47.variant11 1 rs140331560,rs78190741
dbSNP Clinvar
200639040 355.37 CG... C PASS 0/1 107 MOTIF[MA0014.1:Pax5] LOW None None None None None None None DDX59|0.015678189|76.66%
View combined sample_47.variant11 1 rs74621188
dbSNP Clinvar
200639047 3381.86 T G PASS 0/1 99 MOTIF[MA0014.1:Pax5] MODIFIER None 0.74201 0.74200 None None None None None None DDX59|0.015678189|76.66%
View combined sample_47.variant11 1 rs74744243
dbSNP Clinvar
200639050 3381.48 A C PASS 0/1 99 MOTIF[MA0014.1:Pax5] MODIFIER None 0.74121 0.74120 None None None None None None DDX59|0.015678189|76.66%
View combined sample_47.variant11 19 rs7251017
dbSNP Clinvar
3985576 363.32 C T PASS 0/1 32 MOTIF[MA0014.1:Pax5] MODIFIER None 0.09685 0.09685 None None None None None None None
View combined sample_47.variant11 X rs41311479
dbSNP Clinvar
12993286 3354.2 C T PASS 1/1 182 MOTIF[MA0014.1:Pax5] MODIFIER None 0.01881 0.01881 None None None None None None TMSB4X|0.401177727|20.69%
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