SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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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

COL18A1, COL4A4, MAST1, STRC,
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
STRC Deafness, autosomal recessive 16, 603720 (3)

Genes at Clinical Genomics Database

COL18A1, COL4A4, STRC,
COL18A1 Knobloch syndrome 1
COL4A4 Alport syndrome, autosomal recessive
STRC Deafness, autosomal recessive 16

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 4

Export to: CSV
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COL18A1

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 de2670_08232016_bwamem filtered haplotype snpindel 21 rs13046486
dbSNP Clinvar
46898243 495.77 C G PASS 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.07388 0.07388 0.09354 None None None None None None COL18A1|0.045578537|64.02%

COL4A4

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 de2670_08232016_bwamem filtered haplotype snpindel 2 rs2228556
dbSNP Clinvar
227892619 1416.77 C T PASS 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%

MAST1

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 de2670_08232016_bwamem filtered haplotype snpindel 19 rs1078264
dbSNP Clinvar
12963143 534.77 T C PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44689 0.44690 0.32408 None None None None None None HOOK2|0.048125387|63.28%,MAST1|0.140767486|44.3%

STRC

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 de2670_08232016_bwamem filtered haplotype snpindel 15 rs3097773
dbSNP Clinvar
43893072 2115.77 G A PASS 1/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39577 0.39580 0.29298 None None None None None None CKMT1B|0.173345194|39.89%,STRC|0.165616336|40.85%
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