+ Filter Options

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: 9
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_44.variant8 2 . 7130516 466.86 TA... TA... PASS 6/6 5 None None None None None None None None None RNF144A|0.230316059|33.35%
View combined sample_44.variant8 3 rs11268633
dbSNP Clinvar 		38355176 1413.97 T TG... PASS 6/6 23 None None None None None None None None None SLC22A14|0.001081245|95%
View combined sample_44.variant8 6 rs758912928
dbSNP Clinvar 		169065064 267.55 CT... CT... PASS 6/6 20 None None None None None None None None None SMOC2|0.078947814|55.41%
View combined sample_44.variant8 7 . 77166520 829.51 AGGC AG... PASS 6/6 2 None None None None None None None None None None
View combined sample_44.variant8 12 rs201147162
dbSNP Clinvar 		5848762 246.84 TACAC TA... PASS 6/6 6 None None None None None None None None None ANO2|0.232649133|33.14%
View combined sample_44.variant8 13 rs151080336,rs34399719,rs71077914
dbSNP Clinvar 		47256071 110.81 T TT... PASS 6/6 10 None None None None None None None None None LRCH1|0.359785672|23.44%
View combined sample_44.variant8 5 rs765846376
dbSNP Clinvar 		158712204 389.67 CC... C,... PASS 6/6 34 None None None None None None None None None UBLCP1|0.685767087|8.94%
View combined sample_44.variant8 9 rs912130041,rs67422511
dbSNP Clinvar 		4600493 205.41 C CA... PASS 6/6 10 None None None None None None None None None SPATA6L|0.02025056|74.04%
View combined sample_44.variant8 11 rs754516721,rs58440037
dbSNP Clinvar 		122738896 288.19 AT... AT... PASS 6/6 12 None None None None None None None None None CRTAM|0.009908361|80.92%
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