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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:
CELSR1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
Number of Genes: 1

Export to: CSV
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CELSR1
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_66.variant27 22 rs9615351
dbSNP Clinvar 		46760481 1915.37 C G PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.24022 0.24020 0.33716 0.23 0.07 None None None None None None CELSR1|0.033878373|67.81%
View combined sample_66.variant27 22 rs34129506
dbSNP Clinvar 		46807510 1333.92 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.00839 0.00839 0.02353 None None None None None None CELSR1|0.033878373|67.81%
View combined sample_66.variant27 22 rs4823561
dbSNP Clinvar 		46929692 6774.72 A G PASS 1/1 367 NON_SYNONYMOUS_CODING MODERATE None 0.95288 0.95290 0.06620 1.00 0.00 None None None None None None CELSR1|0.033878373|67.81%
View combined sample_66.variant27 22 rs8141744
dbSNP Clinvar 		46930107 3054.03 C T PASS 0/1 233 SYNONYMOUS_CODING LOW None 0.17612 0.17610 0.24262 None None None None None None CELSR1|0.033878373|67.81%
View combined sample_66.variant27 22 rs4823850
dbSNP Clinvar 		46931077 3168.65 G C PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.88898 0.88900 0.13327 0.03 0.06 None None None None None None CELSR1|0.033878373|67.81%
View combined sample_66.variant27 22 rs1009154
dbSNP Clinvar 		46931793 7028.36 G C PASS 1/1 268 SYNONYMOUS_CODING LOW None 0.93990 0.93990 0.08032 None None None None None None CELSR1|0.033878373|67.81%
View combined sample_66.variant27 22 rs1009155
dbSNP Clinvar 		46931838 5839.85 G A PASS 1/1 252 SYNONYMOUS_CODING LOW None 0.88658 0.88660 0.13939 None None None None None None CELSR1|0.033878373|67.81%
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