+ Filter Options

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
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 6
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 gordonsepilepsy filtered 2487_pool 5 rs6556037
dbSNP Clinvar 		172097353 2425.79 C T PASS 0/1 59 MOTIF[MA0139.1:CTCF] MODIFIER None 0.27256 0.27260 None None None None None None NEURL1B|0.153686814|42.45%
View gordonsepilepsy filtered 2487_pool 6 rs146539855
dbSNP Clinvar 		36098497 828.97 T TG... PASS 1/1 13 MOTIF[MA0139.1:CTCF] LOW None 0.66174 0.66170 0.33246 None None None None None None MAPK13|0.1857427|38.27%
View gordonsepilepsy filtered 2487_pool 8 rs4841558
dbSNP Clinvar 		11415597 4450.68 C T PASS 1/1 57 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View gordonsepilepsy filtered 2487_pool 10 rs34058224
dbSNP Clinvar 		47667508 2170.7 C A PASS 0/1 69 MOTIF[MA0139.1:CTCF] MODIFIER None 0.23243 0.23240 None None None None None None ANTXRL|0.000107209|99.93%
View gordonsepilepsy filtered 2487_pool 11 rs575375
dbSNP Clinvar 		64535357 19227.7 T C PASS 1/1 264 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View gordonsepilepsy filtered 2487_pool 11 rs2298724
dbSNP Clinvar 		120823721 11333.2 A G PASS 1/1 150 MOTIF[MA0139.1:CTCF] MODIFIER None 0.26558 0.26560 0.25984 None None None None None None GRIK4|0.59773792|11.84%
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