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: 7
Number of Genes: 1

Export to: CSV

MED16

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 23 recalibrated filtered postcgp gqfiltered 19 rs1060442
dbSNP
885818 55221.78 A G PASS 0/1 150 SYNONYMOUS_CODING LOW SILENT 0.62121 0.62120 0.38175 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs11546307
dbSNP
875389 22316.61 G A PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.18251 0.18250 0.26019 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs78047294
dbSNP
871987 13473.48 G A PASS 0/1 110 SYNONYMOUS_CODING LOW SILENT 0.17312 0.17310 0.24519 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs13090
dbSNP
868115 10718.2 C T PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23982 0.23980 0.31978 0.06 0.29 0.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs34799086
dbSNP
880066 3873.99 G A PASS 0/1 82 SYNONYMOUS_CODING LOW SILENT 0.27756 0.27760 0.13515 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs6678
dbSNP
890165 1212.17 G A PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.17792 0.17790 0.24220 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 rs1683569
dbSNP
871135 917.41 A G PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.26478 0.26480 0.28575 None None None None None None None