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SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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 GROUPS:

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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:

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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:
MTCH1,

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

MTCH1
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 tsvc_variants_ionxpress_029 6 rs35538959
dbSNP Clinvar 		36953919 62.3638 AG A PASS 0/1 56 MOTIF[MA0003.1:Ap2alpha] LOW 0.04712 0.04712 0.05828 None None None None None None MTCH1|0.158731071|41.76%
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 tsvc_variants_ionxpress_029 21 rs1800526
dbSNP Clinvar 		45714256 150.226 G C PASS 0/1 98 MOTIF[MA0003.1:Ap2alpha] LOW 0.21386 0.21390 0.14723 None None None None None None AIRE|0.006628229|83.92%
View tsvc_variants_ionxpress_029 17 . 48277060 426.022 GC... G PASS 1/1 68 MOTIF[MA0003.1:Ap2alpha] LOW 0.51438 0.51440 None None None None None None COL1A1|0.749779298|7.09%
View tsvc_variants_ionxpress_029 17 rs150854949,rs531119562
dbSNP Clinvar 		48277059 50.0 AG... A PASS 0/1 78 MOTIF[MA0003.1:Ap2alpha] LOW 0.51438 0.51440 None None None None None None COL1A1|0.749779298|7.09%
View tsvc_variants_ionxpress_029 15 rs3803354
dbSNP Clinvar 		40856989 500.369 C T PASS 1/1 67 MOTIF[MA0003.1:Ap2alpha] LOW 0.85603 0.85600 0.11712 None None None None None None C15orf57|0.10303008|50.61%
View tsvc_variants_ionxpress_029 1 rs3841811,rs10672134,rs58962570
dbSNP Clinvar 		246670626 1032.11 A AG... PASS 1/1 217 MOTIF[MA0003.1:Ap2alpha] LOW None None None None None None None
View tsvc_variants_ionxpress_029 5 rs34647
dbSNP Clinvar 		72112430 1681.07 C G PASS 1/1 241 MOTIF[MA0003.1:Ap2alpha] MODIFIER 0.84325 0.84330 None None None None None None TNPO1|0.577927625|12.67%
View tsvc_variants_ionxpress_029 5 rs62356073
dbSNP Clinvar 		36241922 1794.23 G A PASS 1/1 247 MOTIF[MA0003.1:Ap2alpha] MODIFIER 0.25839 0.25840 None None None None None None NADK2|0.558013874|13.42%
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