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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

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GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
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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:
CCDC39,

+ Genes associated with diseases 1

Genes at Omim

CCDC39,
CCDC39 Ciliary dyskinesia, primary, 14, 613807 (3)

Genes at Clinical Genomics Database

CCDC39,
CCDC39 Ciliary dyskinesia, primary, 14

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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CCDC39
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 16hpc01701_s1 genome 3 rs11914833
dbSNP Clinvar 		180334719 233.2 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.10264 0.10260 0.09419 None None None None None None TTC14|0.325934886|25.76%,CCDC39|0.085554052|54.04%
View 16hpc01701_s1 genome 3 rs6769457
dbSNP Clinvar 		180365956 574.22 G A PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.31889 0.31890 0.34692 None None None None None None CCDC39|0.085554052|54.04%
View 16hpc01701_s1 genome 3 rs2338436
dbSNP Clinvar 		180366067 437.4 T C PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.15635 0.15630 0.14628 None None None None None None CCDC39|0.085554052|54.04%
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