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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 2

Genes:
PCLO, RBMX,

+ Genes associated with diseases 2

Genes at Omim

PCLO, RBMX,
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)

Genes at Clinical Genomics Database

RBMX,
RBMX Mental retardation, X-linked, syndromic 11, Shashi type

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 2

Export to: CSV
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PCLO
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 allfamilies AWL 7 . 82784366 272.83 AT A,... PASS 1/3 38 FRAME_SHIFT HIGH None None None None None None None PCLO|0.112401256|48.79%

RBMX
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 allfamilies AWL X rs754169349
dbSNP Clinvar 		135961585 487.79 ATGT AT... PASS 1/3 53 START_LOST+CODON_DELETION HIGH None None None None None None None RBMX|0.529633182|14.6%
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 allfamilies AWL 17 . 77073642 1277.29 GC... GC... PASS 1/3 245 None None None None None None None None None ENGASE|0.010702145|80.37%
View allfamilies AWL 20 rs150527448,rs28970277
dbSNP Clinvar 		2633325 147.38 GG... G,... PASS 1/3 14 None None None 0.33686 0.33690 0.24219 None None None None None None NOP56|0.577539421|12.69%
View allfamilies AWL 3 rs533950674,rs200372380
dbSNP Clinvar 		53910120 973.37 AAG A,... PASS 1/3 110 None None None 0.05811 0.05811 0.48179 None None None None None None ACTR8|0.331819735|25.35%
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