+ 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

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 11
Number of Genes: 0

Export to: CSV
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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 wes08-paw final 20 . 43945802 338.77 T C PASS 1/1 10 SPLICE_SITE_REGION LOW None None None None None None RBPJL|0.380367124|22.01%
View wes08-paw final 19 . 13212008 259.73 AG A PASS 0/1 20 SPLICE_SITE_REGION LOW None None None None None None LYL1|0.073626876|56.6%
View wes08-paw final 16 . 20471429 2210.77 A G PASS 1/1 62 SPLICE_SITE_REGION LOW None None None None None None ACSM2A|0.005190474|85.6%
View wes08-paw final 16 . 4365454 427.77 C G PASS 0/1 26 SPLICE_SITE_REGION LOW None None None None None None GLIS2|0.301888093|27.5%
View wes08-paw final 11 . 71818206 719.77 T A PASS 0/1 41 SPLICE_SITE_REGION LOW None None None None None None LRTOMT|0.134690871|45.14%,ANAPC15|0.202476619|36.46%
View wes08-paw final 10 . 93790079 249.75 C CT PASS 0/1 17 SPLICE_SITE_REGION LOW None None None None None None BTAF1|0.83441814|5%
View wes08-paw final 3 . 123700269 1821.73 GTTC G PASS 0/1 100 SPLICE_SITE_REGION LOW None None None None None None ROPN1|0.056890135|60.71%
View wes08-paw final 16 . 89752083 389.77 T C PASS 0/1 29 SPLICE_SITE_REGION LOW None None None None None None CDK10|0.099233006|51.33%
View wes08-paw final 2 . 182994745 326.77 T C PASS 0/1 25 SPLICE_SITE_REGION LOW None None None None None None PPP1R1C|0.373191488|22.52%
View wes08-paw final 19 . 39734247 703.77 T C PASS 0/1 39 SPLICE_SITE_REGION LOW None None None None None None IFNL3|0.002411246|89.86%
View wes08-paw final 3 . 50608362 2021.77 C G PASS 1/1 62 SPLICE_SITE_REGION LOW None None None None None None C3orf18|0.106330269|49.91%,HEMK1|0.0959122|51.96%
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