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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:

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: 8
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_57.variant20 11 rs151290837
dbSNP Clinvar 		500725 2656.0 G A PASS 0/1 209 MOTIF[MA0093.1:USF1] LOW None 0.00559 0.00559 None None None None None None RNH1|0.025357234|71.64%
View combined sample_57.variant20 19 rs4808621
dbSNP Clinvar 		17414267 1068.02 C T PASS 1/1 85 MOTIF[MA0093.1:USF1] LOW None 0.30531 0.30530 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View combined sample_57.variant20 20 rs744590
dbSNP Clinvar 		61870075 789.32 C T PASS 0/1 100 MOTIF[MA0093.1:USF1] LOW None 0.44469 0.44470 None None None None None None BIRC7|0.003576281|87.65%
View combined sample_57.variant20 5 rs397720891
dbSNP Clinvar 		171763533 2263.17 G GT PASS 0/1 92 MOTIF[MA0093.1:USF1] LOW None 0.56110 0.56110 None None None None None None SH3PXD2B|0.062507541|59.2%
View combined sample_57.variant20 11 rs2072233
dbSNP Clinvar 		17519864 830.83 C T PASS 0/1 192 MOTIF[MA0093.1:USF1] LOW None 0.14397 0.14400 0.09788 None None None None None None USH1C|0.375960269|22.32%
View combined sample_57.variant20 19 rs76434007
dbSNP Clinvar 		2341488 2366.33 T A PASS 0/1 187 MOTIF[MA0093.1:USF1] MODIFIER None 0.08966 0.08966 None None None None None None None
View combined sample_57.variant20 9 rs4443759
dbSNP Clinvar 		132388716 3099.05 T C PASS 1/1 93 MOTIF[MA0093.1:USF1] MODIFIER None 0.95088 0.95090 None None None None None None NTMT1|0.139033566|44.54%
View combined sample_57.variant20 19 rs12979308
dbSNP Clinvar 		1275987 1764.34 C G PASS 1/1 49 MOTIF[MA0093.1:USF1] LOW None 0.79892 0.79890 None None None None None None C19orf24|0.0008779|96.15%
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