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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: 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_98.variant43 2 rs878891649
dbSNP Clinvar 		231033633 52.73 AT AT... PASS 7/7 3 SPLICE_SITE_REGION LOW None None None None None None None SP110|0.002025481|90.92%
View combined sample_98.variant43 4 . 123075317 81.28 CT... C,... PASS 7/7 8 None None None None None None None None None KIAA1109|0.35144155|24.01%
View combined sample_98.variant43 7 rs767166885,rs755042964,rs57807464
dbSNP Clinvar 		21805228 325.84 TC... T,... PASS 7/7 13 None None None None None None None None None DNAH11|0.38215847|21.9%
View combined sample_98.variant43 19 . 4529622 169.96 TA... TA... PASS 7/7 8 None None None None None None None None None PLIN5|0.002038103|90.88%
View combined sample_98.variant43 22 rs34190400
dbSNP Clinvar 		51113801 144.23 C CT... PASS 7/7 4 None None None 0.47764 0.47760 None None None None None None SHANK3|0.05921282|60.1%
View combined sample_98.variant43 5 rs750803136,rs777295891
dbSNP Clinvar 		174940299 68.13 TA... T,... PASS 7/7 7 None None None None None None None None None SFXN1|0.033919391|67.8%
View combined sample_98.variant43 16 . 74920075 666.25 CAA CA... PASS 7/7 11 None None None None None None None None None WDR59|0.270941327|29.82%
View combined sample_98.variant43 2 rs538136903,rs752034113
dbSNP Clinvar 		30968760 232.31 AT... AT... PASS 7/7 8 None None None 0.43870 0.43870 None None None None None None CAPN13|0.007226463|83.28%
View combined sample_98.variant43 3 . 45636270 136.44 AA... AA... PASS 7/7 21 None None None None None None None None None LIMD1|0.021021846|73.66%
View combined sample_98.variant43 5 . 137846046 67.91 CA... CA... PASS 7/7 7 None None None None None None None None None ETF1|0.922396234|2.93%
View combined sample_98.variant43 6 rs886061527
dbSNP Clinvar 		47592415 62.89 CT... CT... PASS 7/7 6 None None None None None None None None None CD2AP|0.343657419|24.58%
View combined sample_98.variant43 14 rs371010231
dbSNP Clinvar 		60944896 277.42 C CA... PASS 7/7 3 None None None None None None None None None C14orf39|0.111454646|48.96%
View combined sample_98.variant43 18 . 8639145 926.82 CT... CT... PASS 7/7 8 None None None None None None None None None RAB12|0.193700151|37.44%
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