+ 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
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 9
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 fam5 cleaned 3405_16 15 rs66822811,rs3834548
dbSNP Clinvar 		48623248 2436.0 TC... T PASS 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.53954 0.53950 None None None None None None DUT|0.607180992|11.55%
View fam5 cleaned 3405_16 17 rs150854949,rs531119562
dbSNP Clinvar 		48277059 1978.0 AG... AG... PASS 1/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.51438 0.51440 None None None None None None COL1A1|0.749779298|7.09%
View fam5 cleaned 3405_16 3 rs561357404
dbSNP Clinvar 		43732417 97.0 C G PASS 0/1 6 MOTIF[MA0003.1:Ap2alpha] LOW None 0.00020 0.00020 None None None None None None ANO10|0.098739999|51.41%,ABHD5|0.204529043|36.17%
View fam5 cleaned 3405_16 16 rs28418438
dbSNP Clinvar 		15068908 212.0 C G PASS 0/1 18 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.42931 0.42930 None None None None None None PDXDC1|0.09983334|51.21%
View fam5 cleaned 3405_16 20 rs6122141
dbSNP Clinvar 		61273717 236.0 G C PASS 0/1 9 MOTIF[MA0003.1:Ap2alpha] LOW None 0.51558 0.51560 None None None None None None None
View fam5 cleaned 3405_16 3 rs789224
dbSNP Clinvar 		128598231 1050.0 A C PASS 1/1 17 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.53335 0.53330 None None None None None None None
View fam5 cleaned 3405_16 5 rs34372448
dbSNP Clinvar 		1801427 276.0 C CG PASS 0/1 0 MOTIF[MA0003.1:Ap2alpha] LOW None 0.61542 0.61540 None None None None None None MRPL36|0.002012562|90.97%
View fam5 cleaned 3405_16 5 rs11745573
dbSNP Clinvar 		1801432 202.0 A G PASS 0/1 8 MOTIF[MA0003.1:Ap2alpha] MODIFIER None 0.61542 0.61540 None None None None None None MRPL36|0.002012562|90.97%
View fam5 cleaned 3405_16 15 rs3803354
dbSNP Clinvar 		40856989 910.0 C T PASS 0/1 45 MOTIF[MA0003.1:Ap2alpha] LOW None 0.85603 0.85600 0.11712 None None None None None None C15orf57|0.10303008|50.61%
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