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

APC, IL13, NSD1,
APC Hepatoblastoma, somatic, 114550 (3)
Gastric cancer, somatic, 613659 (3)
Gardner syndrome, 175100 (3)
Desmoid disease, hereditary, 135290 (3)
Colorectal cancer, somatic, 114500 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Adenomatous polyposis coli, 175100 (3)
Adenoma, periampullary, somatic (3)
IL13 {Asthma, susceptibility to}, 600807 (3)
{Allergic rhinitis, susceptibility to}, 607154 (3)
NSD1 Sotos syndrome 1, 117550 (3)
Leukemia, acute myeloid, 601626 (1)
Beckwith-Wiedemann syndrome, 130650 (3)

Genes at Clinical Genomics Database

APC, NSD1,
APC Desmoid disease, hereditary
Gardner syndrome
Familial adenomatous polyposis
NSD1 Beckwith-Wiedemann syndrome
Weaver syndrome
Sotos syndrome

Genes at HGMD

Summary

Number of Variants: 19
Number of Genes: 3

Export to: CSV

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 pc751_s1 5 rs459552
dbSNP
112176756 1512.12 T A PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86542 0.86540 0.17374 0.00 None None None None None None None

IL13

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 5 rs20541
dbSNP
131995964 3945.53 A G PASS 1/1 148 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73003 0.73000 0.18730 0.28 0.00 None None None None None None None

NSD1

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 5 . 176562631 6.39 A T LowGQ;LowGQX;SB 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.20 None None None None None None None
View pc751_s1 5 rs28932181
dbSNP
176639105 826.01 T C PASS 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.10563 0.10560 0.11402 None None None None None None None
View pc751_s1 5 rs1363405
dbSNP
176636882 1937.62 C T PASS 0/1 179 SYNONYMOUS_CODING LOW SILENT 0.46805 0.46810 0.35414 None None None None None None None
View pc751_s1 5 rs28580074
dbSNP
176721198 6956.4 T C PASS 1/1 246 SYNONYMOUS_CODING LOW SILENT 0.77137 0.77140 0.10103 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 5 rs13361707
dbSNP
40791884 810.27 C T PASS 0/1 69 None None None 0.36342 0.36340 None None None None None None None
View pc751_s1 5 rs2255280
dbSNP
39394989 862.07 C A PASS 1/1 32 None None None 0.89617 0.89620 None None None None None None None
View pc751_s1 5 rs12653946
dbSNP
1895829 778.96 C T PASS 0/1 93 None None None 0.43710 0.43710 None None None None None None None
View pc751_s1 5 rs31489
dbSNP
1342714 1186.62 C A PASS 0/1 99 None None None 0.31989 0.31990 None None None None None None None
View pc751_s1 5 rs401681
dbSNP
1322087 803.57 C T PASS 0/1 100 None None None 0.41074 0.41070 None None None None None None None
View pc751_s1 5 rs4975616
dbSNP
1315660 969.92 G A PASS 0/1 89 None None None 0.60184 0.60180 None None None None None None None
View pc751_s1 5 rs2853676
dbSNP
1288547 1723.65 T C PASS 1/1 66 None None None 0.74880 0.74880 None None None None None None None
View pc751_s1 5 rs2736100
dbSNP
1286516 566.35 C A PASS 0/1 74 None None None 0.51538 0.51540 None None None None None None None
View pc751_s1 5 rs10058728
dbSNP
148904092 2697.98 A T PASS 1/1 105 None None None 0.76777 0.76780 None None None None None None None
View pc751_s1 5 rs4624820
dbSNP
141681788 1631.7 G A PASS 0/1 150 None None None 0.51358 0.51360 None None None None None None None
View pc751_s1 5 rs9293511
dbSNP
88416354 537.98 C T PASS 0/1 68 None None None 0.46306 0.46310 None None None None None None None
View pc751_s1 5 rs889312
dbSNP
56031884 1050.73 C A PASS 0/1 90 None None None 0.61302 0.61300 None None None None None None None
View pc751_s1 5 rs2121875
dbSNP
44365545 2059.49 C A PASS 1/1 74 None None None 0.46645 0.46650 None None None None None None None