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

PRF1, RET,
PRF1 Lymphoma, non-Hodgkin, 605027 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Aplastic anemia, 609135 (3)
RET {Hirschsprung disease, susceptibility to, 1}, 142623 (3)
Pheochromocytoma, 171300 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Medullary thyroid carcinoma, 155240 (3)
Central hypoventilation syndrome, congenital, 209880 (3)

Genes at Clinical Genomics Database

PRF1, RET,
PRF1 Aplastic anemia, adult-onset
Lymphoma, non-Hodgkin
Hemophagocytic lymphohistiocytosis, familial, 2
RET Hirschsprung disease, susceptibility to 1
Pheochromocytoma
Medullary thyroid carcinoma, familial
Multiple endocrine neoplasia IIB
Multiple endocrine neoplasia, type IIA
Central hypoventilation syndrome, congenital

Genes at HGMD

Summary

Number of Variants: 23
Number of Genes: 2

Export to: CSV

PRF1

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 pc751_s1 10 rs885822
dbSNP
72358577 6537.81 G A PASS 1/1 255 SYNONYMOUS_CODING LOW SILENT 0.69589 0.69590 0.33761 None None None None None None None
View pc751_s1 10 rs115281140
dbSNP
72360224 1176.32 C T PASS 0/1 132 SYNONYMOUS_CODING LOW SILENT 0.01278 0.01278 0.01223 None None None None None None None
View pc751_s1 10 rs116554195
dbSNP
72360197 647.82 T C PASS 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.01518 0.01518 0.01584 None None None None None None None
View pc751_s1 10 rs28933375
dbSNP
72358722 2273.13 T C PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00759 0.00759 0.00846 0.03 0.01 None None None None None None None

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 pc751_s1 10 rs1800861
dbSNP
43613843 2711.91 G T PASS 1/1 109 SYNONYMOUS_CODING LOW SILENT 0.71246 0.71250 0.19737 None None None None None None None
View pc751_s1 10 rs1799939
dbSNP
43610119 1140.92 G A PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16913 0.16910 0.15700 0.74 0.02 None None None None None None None
View pc751_s1 10 rs1800860
dbSNP
43606687 1823.57 A G PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.77516 0.77520 0.25142 None None None None None None None
View pc751_s1 10 rs1800858
dbSNP
43595968 2961.95 A G PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 0.75359 0.75360 0.19084 None None None None None None None
View pc751_s1 10 rs1800863
dbSNP
43615633 341.25 C G PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.17252 0.17250 0.16095 None None None None None None None
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 pc751_s1 10 rs7089424
dbSNP
63752159 1397.64 T G PASS 0/1 154 None None None 0.36901 0.36900 None None None None None None None
View pc751_s1 10 rs10821936
dbSNP
63723577 176.6 C T PASS 0/1 41 None None None 0.64277 0.64280 None None None None None None None
View pc751_s1 10 rs10993994
dbSNP
51549496 673.74 T C PASS 1/1 30 None None None 0.48263 0.48260 0.47087 None None None None None None None
View pc751_s1 10 rs3123078
dbSNP
51524971 3840.57 C T PASS 1/1 157 None None None 0.52496 0.52500 None None None None None None None
View pc751_s1 10 rs11017876
dbSNP
129200964 1321.25 G A PASS 0/1 119 None None None 0.22923 0.22920 0.22079 None None None None None None None
View pc751_s1 10 rs10795668
dbSNP
8701219 694.55 G A PASS 0/1 72 None None None 0.22744 0.22740 None None None None None None None
View pc751_s1 10 rs2981582
dbSNP
123352317 1423.86 A G PASS 0/1 114 None None None 0.59625 0.59620 None None None None None None None
View pc751_s1 10 rs1219648
dbSNP
123346190 2815.58 A G PASS 0/1 255 None None None 0.40895 0.40890 None None None None None None None
View pc751_s1 10 rs2981575
dbSNP
123346116 2966.48 G A PASS 0/1 275 None None None 0.52376 0.52380 None None None None None None None
View pc751_s1 10 rs2981579
dbSNP
123337335 585.77 A G PASS 0/1 50 None None None 0.50939 0.50940 None None None None None None None
View pc751_s1 10 rs12413624
dbSNP
120278944 623.72 T A PASS 0/1 83 None None None 0.30431 0.30430 None None None None None None None
View pc751_s1 10 rs704010
dbSNP
80841148 2144.55 T C PASS 1/1 81 None None None 0.73263 0.73260 None None None None None None None
View pc751_s1 10 rs224278
dbSNP
64580575 1498.91 C T PASS 1/1 61 None None None 0.41953 0.41950 None None None None None None None
View pc751_s1 10 rs10822013
dbSNP
64251977 897.91 C T PASS 0/1 98 None None None 0.42093 0.42090 None None None None None None None