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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 6
Number of Genes: 1

Export to: CSV
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CHTF18

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 16 rs2277901
dbSNP Clinvar
839084 893.68 A C PASS 0/1 376 NON_SYNONYMOUS_CODING MODERATE None 0.13818 0.13820 0.09782 0.30 0.00 None None None None None None CHTF18|0.015143539|77.06%
View allfamilies AWL 16 rs117479929
dbSNP Clinvar
839184 272.45 T C PASS 0/1 151 None None None 0.10503 0.10500 0.02056 None None None None None None CHTF18|0.015143539|77.06%
View allfamilies AWL 16 rs569951
dbSNP Clinvar
839262 1153.62 A G PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.99701 0.99700 0.00914 None None None None None None CHTF18|0.015143539|77.06%
View allfamilies AWL 16 rs3765263
dbSNP Clinvar
840378 1336.35 A G PASS 1/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.49441 0.49440 0.33129 1.00 0.00 None None None None None None CHTF18|0.015143539|77.06%
View allfamilies AWL 16 rs3765265
dbSNP Clinvar
840597 392.95 C T PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.10304 0.10300 0.02557 None None None None None None CHTF18|0.015143539|77.06%
View allfamilies AWL 16 rs2277897
dbSNP Clinvar
842450 422.04 C T PASS 0/1 207 SYNONYMOUS_CODING LOW None 0.14177 0.14180 0.12151 None None None None None None CHTF18|0.015143539|77.06%
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