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
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Genes at Omim

ALK, DIS3L2, EPCAM, MLPH, MSH6, TMEM127,
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
DIS3L2 Perlman syndrome, 267000 (3)
EPCAM Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3)
MLPH Griscelli syndrome, type 3, 609227 (3)
MSH6 Mismatch repair cancer syndrome, 276300 (3)
Endometrial cancer, familial, 608089 (3)
Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
TMEM127 {Pheochromocytoma, susceptibility to}, 171300 (3)

Genes at Clinical Genomics Database

ALK, DIS3L2, EPCAM, FANCL, MLPH, MSH6, TMEM127,
ALK Neuroblastoma, susceptibility to, 3
DIS3L2 Perlman syndrome
EPCAM Diarrhea 5, with tufting enteropathy, congenital
Colorectal cancer, hereditary nonpolyposis, type 8
FANCL Fanconi anemia type L
MLPH Griscelli syndrome, type 3
MSH6 Endometrial cancer
Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 5
TMEM127 Pheochromocytoma

Genes at HGMD

Summary

Number of Variants: 26
Number of Genes: 7

Export to: CSV
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 2 rs6734275
dbSNP
67241174 927.56 G A PASS 0/1 90 None None None 0.40316 0.40320 None None None None None None None

MSH6

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 2 rs1042820
dbSNP
48010558 84.6 C A SB 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.06909 0.06909 0.11665 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 2 rs7584993
dbSNP
223845942 2025.66 C A PASS 1/1 82 None None None 0.60184 0.60180 None None None None None None None
View pc751_s1 2 rs1432295
dbSNP
61066666 1101.91 G A PASS 0/1 107 None None None 0.82129 0.82130 None None None None None None None

ALK

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 2 rs4358080
dbSNP
30143499 2626.07 G C PASS 1/1 86 SYNONYMOUS_CODING LOW SILENT 0.89377 0.89380 0.09071 None None None None None None None

EPCAM

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 2 rs1126497
dbSNP
47601106 363.75 T C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66613 0.66610 0.43326 1.00 0.00 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 2 rs10187424
dbSNP
85794297 427.33 T C PASS 0/1 62 None None None 0.46765 0.46770 None None None None None None None
View pc751_s1 2 rs1465618
dbSNP
43553949 2516.94 T C PASS 1/1 96 None None None 0.70487 0.70490 None None None None None None None
View pc751_s1 2 rs2072590
dbSNP
177042633 2306.55 A C PASS 1/1 99 None None None 0.81749 0.81750 None None None None None None None

ALK

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 2 rs1670283
dbSNP
29416572 1773.94 T C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99221 0.99220 0.00969 0.71 0.00 None None None None None None None

MSH6

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 2 rs1800935
dbSNP
48023115 1067.08 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.13518 0.13520 0.25065 None None None None None None None

ALK

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 2 rs2293564
dbSNP
29543663 409.5 T C PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.77656 0.77660 0.20906 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 2 rs1364054
dbSNP
8178735 2016.15 A G PASS 1/1 81 None None None 0.48822 0.48820 0.41036 None None None None None None None
View pc751_s1 2 rs7584330
dbSNP
238387228 1752.76 A G PASS 0/1 159 None None None 0.40655 0.40650 None None None None None None None

DIS3L2

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 2 rs3811578
dbSNP
233201328 244.19 A G PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.20208 0.20210 0.09947 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 2 rs13397985
dbSNP
231091223 1391.58 T G PASS 0/1 131 None None None 0.10643 0.10640 None None None None None None None
View pc751_s1 2 rs13016963
dbSNP
202162811 2647.83 A G PASS 1/1 109 None None None 0.63818 0.63820 None None None None None None None

FANCL

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 2 rs848291
dbSNP
58388696 2738.19 A G PASS 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.70647 0.70650 0.29591 None None None None None None None

MSH6

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 2 rs1800932
dbSNP
48018081 2134.25 A G PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.08666 0.08666 0.16523 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 2 rs7579899
dbSNP
46537604 2676.9 A G PASS 1/1 109 None None None 0.42572 0.42570 None None None None None None None

ALK

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 2 rs2256740
dbSNP
29455267 1730.0 A G PASS 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.33861 None None None None None None None

MLPH

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 2 rs2292884
dbSNP
238443226 671.36 A G PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37141 0.37140 0.36076 1.00 0.00 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 2 rs6435862
dbSNP
215672546 736.09 G T PASS 0/1 63 None None None 0.76877 0.76880 None None None None None None None
View pc751_s1 2 rs966423
dbSNP
218310340 1163.53 C T PASS 0/1 128 None None None 0.29133 0.29130 None None None None None None None

TMEM127

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 2 rs3852673
dbSNP
96919642 181.3 C T LowGQ;LowGQX;SB 0/1 7 SYNONYMOUS_CODING LOW SILENT 0.13938 0.13940 0.13871 None None None None None None None

ALK

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 2 rs2246745
dbSNP
29940529 2024.66 A T PASS 1/1 83 SYNONYMOUS_CODING LOW SILENT 0.58926 0.58930 0.37298 None None None None None None None