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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:

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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: 13
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 combined sample_39.variant3 2 rs3731838
dbSNP Clinvar 		38960927 2316.02 G A PASS 0/1 87 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.63898 0.63900 None None None None None None GALM|0.264774088|30.32%
View combined sample_39.variant3 10 rs2297887
dbSNP Clinvar 		60029283 1204.54 G A PASS 0/1 107 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.11042 0.11040 None None None None None None CISD1|0.294546332|28.08%
View combined sample_39.variant3 18 rs4797103
dbSNP Clinvar 		3261764 676.78 G T PASS 1/1 26 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.90355 0.90360 None None None None None None None
View combined sample_39.variant3 3 rs147398495,rs869279285,rs148977443
dbSNP Clinvar 		46249943 31.81 GTTC G PASS 1/1 13 MOTIF[MA0114.1:HNF4A] LOW None 0.64197 0.64200 None None None None None None CCR3|0.024651791|71.95%
View combined sample_39.variant3 6 rs62622856
dbSNP Clinvar 		116892734 1479.95 G A PASS 0/1 153 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.01558 0.01558 0.02023 None None None None None None RWDD1|0.515013877|15.14%
View combined sample_39.variant3 6 rs3757318
dbSNP Clinvar 		151914113 1240.63 G A PASS 0/1 85 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.09006 0.09006 None None None None None None CCDC170|0.073258235|56.72%
View combined sample_39.variant3 16 rs9934438
dbSNP Clinvar 		31104878 1025.74 G A PASS 0/1 52 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.35583 0.35580 None None None None None None VKORC1|0.065829052|58.39%
View combined sample_39.variant3 17 rs74933984
dbSNP Clinvar 		41046727 1308.86 G A PASS 1/1 36 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.05631 0.05631 None None None None None None None
View combined sample_39.variant3 19 rs79749579,rs386388574,rs386365455
dbSNP Clinvar 		12662318 5501.05 G GC PASS 1/1 250 MOTIF[MA0114.1:HNF4A] LOW None 0.99241 0.99240 None None None None None None ZNF564|0.000930238|95.9%
View combined sample_39.variant3 10 rs1126827
dbSNP Clinvar 		48438734 3638.59 C T PASS 1/1 199 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.68490 0.68490 0.25000 None None None None None None GDF10|0.0826415|54.67%
View combined sample_39.variant3 14 rs67238064
dbSNP Clinvar 		24768947 1217.6 AG A PASS 1/1 83 MOTIF[MA0114.1:HNF4A] LOW None 0.26777 0.26780 None None None None None None DHRS1|0.040246768|65.68%
View combined sample_39.variant3 19 rs3848638
dbSNP Clinvar 		1383649 3231.88 G T PASS 0/1 269 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.38119 0.38120 None None None None None None NDUFS7|0.029181719|69.79%
View combined sample_39.variant3 22 rs75231079
dbSNP Clinvar 		45072910 1395.95 A G PASS 1/1 45 MOTIF[MA0114.1:HNF4A] MODIFIER None 0.05272 0.05272 None None None None None None PRR5|0.038142723|66.4%
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