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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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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 1

Genes:
CHAT,

+ Genes associated with diseases 1

Genes at Omim

CHAT,
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)

Genes at Clinical Genomics Database

CHAT,
CHAT Myasthenic syndrome, congenital 6, presynaptic

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV
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CHAT
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 tsvc_variants_ionxpress_001 10 rs3810950
dbSNP Clinvar 		50824619 223.129 G A PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.16054 0.16050 0.18238 0.44 0.01 None None None None None None CHAT|0.652613184|10%
View tsvc_variants_ionxpress_001 10 rs4838544
dbSNP Clinvar 		50856652 1379.47 G A PASS 1/1 146 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96645 0.96650 0.03898 1.00 0.00 None None None None None None CHAT|0.652613184|10%
View tsvc_variants_ionxpress_001 10 rs8178992
dbSNP Clinvar 		50863147 516.122 T C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.79353 0.79350 0.16016 None None None None None None CHAT|0.652613184|10%
View tsvc_variants_ionxpress_001 10 rs1880676
dbSNP Clinvar 		50824117 64.8405 G A PASS 0/1 28 None None None 0.16154 0.16150 0.18757 0.43 0.13 None None None None None None CHAT|0.652613184|10%
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