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INDIVIDUALS:

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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 at Omim

EGFR, ERBB2, IDH2, PIK3CA, RET, TP53,
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
IDH2 D-2-hydroxyglutaric aciduria 2, 613657 (3)
PIK3CA Breast cancer, somatic, 114480 (3)
CLAPO syndrome, somatic, 613089 (3)
CLOVE syndrome, somatic, 612918 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 5, 615108 (3)
Gastric cancer, somatic, 613659 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Keratosis, seborrheic, somatic, 182000 (3)
Macrodactyly, somatic, 155500 (3)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)
Nevus, epidermal, somatic, 162900 (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
Ovarian cancer, somatic, 167000 (3)
RET Central hypoventilation syndrome, congenital, 209880 (3)
{Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
TP53 {Choroid plexus papilloma}, 260500 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
{Colorectal cancer}, 114500 (3)
{Glioma susceptibility 1}, 137800 (3)
{Osteosarcoma}, 259500 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)

Genes at Clinical Genomics Database

EGFR, IDH2, PIK3CA, RET, TP53,
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
IDH2 D-2-hydroxyglutaric aciduria 2
PIK3CA Cowden syndrome 5
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer

Genes at HGMD

Summary

Number of Variants: 10
Number of Genes: 6

Export to: CSV
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EGFR

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 valid-000001933_mtdepth-216 smcounter cut 7 . 55268980 59.0 T C PASS 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None None

ERBB2

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 valid-000001933_mtdepth-216 smcounter cut 17 . 37872093 21.0 A AC SB 0/1 0 FRAME_SHIFT HIGH None None None None None None None ERBB2|0.999907834|0.19%

IDH2

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 valid-000001933_mtdepth-216 smcounter cut 15 rs747216375
dbSNP Clinvar
90631917 122.0 TC T PASS 0/1 0 FRAME_SHIFT HIGH None None None None None None None None

PIK3CA

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 valid-000001933_mtdepth-216 smcounter cut 3 rs121913279
dbSNP Clinvar
178952085 163.0 A G PASS 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.11 0.53 None None None None None None PIK3CA|0.99977008|0.26%
View valid-000001933_mtdepth-216 smcounter cut 3 . 178921418 18.0 C A LSM;DP;LowQ 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37 0.00 None None None None None None PIK3CA|0.99977008|0.26%
View valid-000001933_mtdepth-216 smcounter cut 3 rs2230461
dbSNP Clinvar
178927410 159.0 A G PASS 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.08786 0.08786 0.10960 0.53 0.04 None None None None None None PIK3CA|0.99977008|0.26%
View valid-000001933_mtdepth-216 smcounter cut 3 rs587776932
dbSNP Clinvar
178947865 355.0 G A PASS 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.64 None None None None None None PIK3CA|0.99977008|0.26%

RET

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 valid-000001933_mtdepth-216 smcounter cut 10 . 43615599 25.0 T C R1CP 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None None

TP53

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 valid-000001933_mtdepth-216 smcounter cut 17 . 7576897 19.0 G A PASS 0/1 0 STOP_GAINED HIGH None None None None None None None None
View valid-000001933_mtdepth-216 smcounter cut 17 . 7578196 20.0 A G LowQ 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 1.00 None None None None None None None
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