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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 1

Genes:
NUP98,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 1

Export to: CSV
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NUP98
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 sp16_multisample SP16_819 11 rs1875
dbSNP Clinvar 		3714489 34.97 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.27576 0.27580 0.22380 None None None None None None NUP98|0.583387171|12.43%
View sp16_multisample SP16_819 11 rs35404087
dbSNP Clinvar 		3723781 213.92 G C PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.04173 0.04173 0.08855 0.29 0.05 None None None None None None NUP98|0.583387171|12.43%
View sp16_multisample SP16_819 11 rs35803045
dbSNP Clinvar 		3733899 255.69 C T PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.02516 0.02516 0.05416 None None None None None None NUP98|0.583387171|12.43%
View sp16_multisample SP16_819 11 rs61751339
dbSNP Clinvar 		3752727 254.43 T G PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.02516 0.02516 0.05401 None None None None None None NUP98|0.583387171|12.43%
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