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 at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 1

Export to: CSV

PSG11

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 hp37_1_filt_10x 19 rs1058958
dbSNP
43529027 369.77 A G PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.64297 0.64300 0.49969 None None None None None None None
View hp37_1_filt_10x 19 rs2471952
dbSNP
43529026 361.77 C T PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00080 0.00080 0.49985 0.16 0.04 None None None None None None None
View hp37_1_filt_10x 19 rs111739483
dbSNP
43528932 535.77 C T PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04553 0.04553 0.01402 1.00 0.01 None None None None None None None
View hp37_1_filt_10x 19 rs10414166
dbSNP
43519442 714.77 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85643 0.85640 0.23507 0.68 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs11083680
dbSNP
43519362 569.77 C T PASS 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.64756 0.64760 0.47976 None None None None None None None
View hp37_1_filt_10x 19 rs111493043
dbSNP
43519270 100.77 A G PASS 0/1 18 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.03674 0.03674 0.01201 0.39 0.00 None None None None None None None