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INDIVIDUALS:

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 GROUPS:

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GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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SELECT YOUR DISEASES:
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CLINICAL GENOMICS DATABASE:
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 CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

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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 4

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 4

Export to: CSV
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AC092964.1
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 mm180101la 3 rs562405291
dbSNP Clinvar 		172034979 225.73 C CT . 0/1 42 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None FNDC3B|0.421855194|19.52%

CTC-241N9.1
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 mm180101la 5 rs1611076
dbSNP Clinvar 		179287622 8359.73 G GTA . 1/1 170 FRAME_SHIFT+STOP_GAINED HIGH None 0.48263 0.48260 None None None None None None C5orf45|0.001770546|91.6%

PP13004
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 mm180101la 7 rs5883531,rs397802736
dbSNP Clinvar 		36124231 3820.73 G GT . 0/1 189 FRAME_SHIFT+STOP_GAINED HIGH None 0.15955 0.15950 None None None None None None None

RETNLB
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 mm180101la 3 rs5851607,rs368497660
dbSNP Clinvar 		108475993 2256.73 G GG... . 0/1 61 FRAME_SHIFT+STOP_GAINED HIGH None 0.09165 0.09165 0.15607 None None None None None None RETNLB|0.001866785|91.35%
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