+ 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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 2

Genes:
MUC3A, OR8U1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 2

Export to: CSV
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MUC3A
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs66732041
dbSNP Clinvar 		100550245 2697.77 G A FSFilter 0/1 264 NON_SYNONYMOUS_CODING MODERATE None 0.02137 0.02137 1.00 0.00 None None None None None None MUC3A|0.001683398|91.94%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 7 rs67587735
dbSNP Clinvar 		100550252 2658.77 A G FSFilter 0/1 257 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.44 0.00 None None None None None None MUC3A|0.001683398|91.94%

OR8U1
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs4990122
dbSNP Clinvar 		56143696 4762.77 C T FSFilter 0/1 277 SYNONYMOUS_CODING LOW None 0.00260 0.00260 None None None None None None OR8U1|0.013503046|78.21%
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 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs73395699
dbSNP Clinvar 		1213533 2694.77 C T FSFilter 0/1 286 None None None None None None None None None MUC5AC|0.008237762|82.42%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 15 . 62535429 198.77 A C FSFilter 0/1 72 None None None None None None None None None None
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 3 . 52554749 416.73 T G FSFilter 0/1 64 None None None None None None None None None STAB1|0.052083184|62.04%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 3 . 52554741 299.77 T G FSFilter 0/1 64 None None None None None None None None None STAB1|0.052083184|62.04%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 14 . 92562514 79.77 T G FSFilter 0/1 35 None None None None None None None None None ATXN3|0.681306976|9.03%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 11 rs745500103
dbSNP Clinvar 		2438940 164.77 A C FSFilter 0/1 52 None None None None None None None None None TRPM5|0.01524992|76.97%
View 0010dbs 0_bwamem sort rmdup readfiltered realn recal 0_gatk_hc 3 rs554069570
dbSNP Clinvar 		52554744 448.77 T G FSFilter 0/1 64 None None None 0.00100 0.00100 None None None None None None STAB1|0.052083184|62.04%
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