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

MLH3,
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)

Genes at Clinical Genomics Database

MLH3,
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma

Genes at HGMD

Summary

Number of Variants: 17
Number of Genes: 2

Export to: CSV
  • Page 1 of 1

MLH3

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 16on271_ionxpress_012 14 rs28756992
dbSNP Clinvar
75513826 451.935 T C PASS 0/1 282 NON_SYNONYMOUS_CODING MODERATE None 0.01697 0.01697 0.01530 0.31 0.00 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs175080
dbSNP Clinvar
75513828 738.338 G A PASS 0/1 283 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.44264 0.18 0.01 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs175081
dbSNP Clinvar
75513883 2625.35 T C PASS 1/1 274 NON_SYNONYMOUS_CODING MODERATE None 0.99042 0.99040 0.01123 0.20 0.00 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs28756990
dbSNP Clinvar
75514138 365.935 C A PASS 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.02596 0.02199 0.44 0.67 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 . 75514603 26.1955 C T PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.07 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs28756980
dbSNP Clinvar
75515693 676.43 C T PASS 0/1 383 SYNONYMOUS_CODING LOW None 0.02596 0.02596 0.02076 None None None None None None MLH3|0.168045017|40.57%

RAD51B

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 16on271_ionxpress_012 14 . 69061285 28.6435 CT C,CC PASS 0/1 49 None None None None None None None None None None
View 16on271_ionxpress_012 14 rs33929366
dbSNP Clinvar
68353913 346.656 T G PASS 0/1 178 NON_SYNONYMOUS_CODING MODERATE None 0.00919 0.00919 0.00954 0.21 0.12 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 16on271_ionxpress_012 14 rs1474939
dbSNP Clinvar
68331675 136.307 A T PASS 1/1 15 None None None None None None None None None None
View 16on271_ionxpress_012 14 rs1778057
dbSNP Clinvar
95566108 31.4308 C A PASS 0/1 42 None None None 0.87001 0.87000 None None None None None None DICER1|0.959525811|1.99%
View 16on271_ionxpress_012 14 rs115390593
dbSNP Clinvar
69061033 155.522 C T PASS 0/1 50 None None None 0.01118 0.01118 None None None None None None None
View 16on271_ionxpress_012 14 rs77157930
dbSNP Clinvar
75485519 234.569 G C PASS 0/1 109 None None None 0.02536 0.02536 0.02015 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs175056
dbSNP Clinvar
75489446 1866.9 T C PASS 1/1 195 None None None 0.99042 0.99040 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs175057
dbSNP Clinvar
75489632 3058.41 C T PASS 1/1 318 None None None 0.40635 0.40630 0.48362 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs75767827
dbSNP Clinvar
75500042 176.438 T C PASS 0/1 81 None None None 0.01438 0.01438 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs175075
dbSNP Clinvar
75505016 953.284 A G PASS 1/1 99 None None None 0.98622 0.98620 0.01553 None None None None None None MLH3|0.168045017|40.57%
View 16on271_ionxpress_012 14 rs13078
dbSNP Clinvar
95556747 172.967 A T PASS 0/1 82 None None None 0.90895 0.90890 None None None None None None DICER1|0.959525811|1.99%
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