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:
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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
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Genes at Omim

APC, HRAS, PPP2R1A,
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Hepatoblastoma, somatic, 114550 (3)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)

Genes at Clinical Genomics Database

APC, HRAS, PPP2R1A,
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
PPP2R1A Mental retardation, autosomal dominant 36

Genes at HGMD

Summary

Number of Variants: 4
Number of Genes: 4

Export to: CSV
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APC

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 myexome-1 5 rs41115
dbSNP Clinvar
112175770 2535.77 G A PASS 0/1 177 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%

HRAS

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 myexome-1 11 rs12628
dbSNP Clinvar
534242 1157.77 A G PASS 0/1 124 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.29713 0.29710 0.35453 None None None None None None HRAS|0.999987107|0.08%

PPP2R1A

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 myexome-1 19 rs10413435
dbSNP Clinvar
52729030 1583.77 C T PASS 0/1 178 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.08307 0.08307 0.09719 None None None None None None PPP2R1A|0.359417968|23.46%

RNF31

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 myexome-1 14 rs2273913
dbSNP Clinvar
24617238 2666.77 C T PASS 0/1 211 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.34345 0.34350 0.22452 None None None None None None RNF31|0.218061063|34.61%
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