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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 1

Genes:
CASC5,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 1

Export to: CSV
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CASC5
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 p545-full_variant_table 15 rs11070285
dbSNP Clinvar 		40915894 1718.0 T C PASS 1/1 71 SYNONYMOUS_CODING LOW SILENT 0.35184 0.35180 0.39279 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs8040502
dbSNP Clinvar 		40915190 1272.0 A G PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70567 0.70570 0.13053 1.00 0.00 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs8041534
dbSNP Clinvar 		40915045 1178.0 T G PASS 1/1 50 SYNONYMOUS_CODING LOW SILENT 0.35124 0.35120 0.39320 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs11855334
dbSNP Clinvar 		40914772 1743.0 C T PASS 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.35084 0.35080 0.38989 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs11858113
dbSNP Clinvar 		40914177 1531.0 T C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35144 0.35140 0.39147 0.01 0.59 None None None None None None CASC5|0.071244707|57.17%
View p545-full_variant_table 15 rs2412541
dbSNP Clinvar 		40913840 1319.0 G T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65395 0.65400 0.17829 1.00 0.00 None None None None None None CASC5|0.071244707|57.17%
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