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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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 EXCLUDE GROUPS:

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SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
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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:
KCNK16,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
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KCNK16
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 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs11756091
dbSNP Clinvar 		39282806 1888.77 G T PASS 0/1 145 None None None 0.58427 0.58430 0.38698 0.03 0.00 -0.15 None None None None None None KCNK16|0.065527648|58.48%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs11753141
dbSNP Clinvar 		39283083 4552.77 G A PASS 0/1 323 SYNONYMOUS_CODING LOW None 0.58227 0.58230 0.40429 None None None None None None KCNK16|0.065527648|58.48%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs1535500
dbSNP Clinvar 		39284050 1052.77 G T PASS 0/1 83 None None None 0.58886 0.58890 0.38731 1.00 0.04 -0.10 None None None None None None KCNK16|0.065527648|58.48%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3734618
dbSNP Clinvar 		39284184 1237.77 A G PASS 0/1 73 None None None 0.60344 0.60340 0.36783 None None None None None None KCNK16|0.065527648|58.48%
View 62388010_s7 mvar 62388010_S7.FREEBAYES 6 rs3734619
dbSNP Clinvar 		39290200 1206.77 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.38618 0.38620 0.42142 None None None None None None KCNK16|0.065527648|58.48%
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