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

PTCH1, TSC1,
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)

Genes at Clinical Genomics Database

PTCH1, TSC1,
PTCH1 Basal cell nevus syndrome
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis

Genes at HGMD

Summary

Number of Variants: 12
Number of Genes: 2

Export to: CSV
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PTCH1

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 5_s5 9 rs357564
dbSNP Clinvar
98209594 5350.59 G A PASS 0/1 528 NON_SYNONYMOUS_CODING MODERATE None 0.39677 0.39680 0.29925 0.01 0.44 None None None None None None PTCH1|0.998599634|0.48%
View 5_s5 9 rs1805155
dbSNP Clinvar
98238379 5483.61 A G PASS 0/1 471 SYNONYMOUS_CODING LOW None 0.11162 0.11160 0.13094 None None None None None None PTCH1|0.998599634|0.48%

TSC1

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 5_s5 9 rs1073123
dbSNP Clinvar
135786904 7238.65 A G PASS 0/1 734 NON_SYNONYMOUS_CODING MODERATE None 0.13518 0.13520 0.16546 0.48 0.00 None None None None None None TSC1|0.596037841|11.9%
View 5_s5 9 rs7862221
dbSNP Clinvar
135782221 7779.52 T C PASS 0/1 717 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13858 0.13860 0.17092 None None None None None None TSC1|0.596037841|11.9%
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 5_s5 9 rs1011970
dbSNP Clinvar
22062134 11720.53 G T PASS 1/1 439 None None None 0.24720 0.24720 None None None None None None None
View 5_s5 9 rs4977756
dbSNP Clinvar
22068652 9045.54 G A PASS 1/1 346 None None None 0.71166 0.71170 None None None None None None None
View 5_s5 9 rs3814113
dbSNP Clinvar
16915021 1302.47 T C LowVariantFreq 0/1 547 None None None 0.44389 0.44390 None None None None None None None
View 5_s5 9 rs755383
dbSNP Clinvar
863635 4801.63 C T PASS 0/1 790 None None None 0.54074 0.54070 None None None None None None None
View 5_s5 9 rs965513
dbSNP Clinvar
100556109 5827.9 A G PASS 1/1 230 None None None 0.79972 0.79970 None None None None None None None
View 5_s5 9 rs865686
dbSNP Clinvar
110888478 6371.4 G T PASS 0/1 676 None None None 0.70807 0.70810 None None None None None None None
View 5_s5 9 rs7040024
dbSNP Clinvar
845516 6013.65 A C PASS 0/1 776 None None None 0.23343 0.23340 None None None None None None None
View 5_s5 9 rs2157719
dbSNP Clinvar
22033366 5682.79 C T PASS 1/1 231 None None None 0.81250 0.81250 None None None None None None None
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