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

EXT1, RECQL4,
EXT1 Exostoses, multiple, type 1, 133700 (3)
Chondrosarcoma, 215300 (3)
RECQL4 Rothmund-Thomson syndrome, 268400 (3)
RAPADILINO syndrome, 266280 (3)
Baller-Gerold syndrome, 218600 (3)

Genes at Clinical Genomics Database

EXT1, RECQL4, WRN,
EXT1 Exostoses, multiple, type 1
RECQL4 Rothmund-Thomson syndrome
RAPADILINO syndrome
Baller-Gerold syndrome
WRN Werner syndrome

Genes at HGMD

Summary

Number of Variants: 24
Number of Genes: 3

Export to: CSV

EXT1

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 8 rs17439693
dbSNP
118832020 315.18 G A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.12021 0.12020 0.16431 None None None None None None None
View pc751_s1 8 rs11546829
dbSNP
118847782 513.66 G A PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.17392 0.17390 0.24604 None None None None None None None
View pc751_s1 8 rs7837891
dbSNP
118819578 3204.61 C T PASS 1/1 123 SYNONYMOUS_CODING LOW SILENT 0.33846 0.33850 0.35107 None None None None None None None

RECQL4

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 8 rs2721190
dbSNP
145742514 1263.35 A G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94329 0.94330 0.00483 1.00 0.00 None None None None None None None
View pc751_s1 8 rs11342077,rs398010167
dbSNP
145738767 5492.01 CG C PASS 1/1 134 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 1.00000 1.00000 None None None None None None None
View pc751_s1 8 rs4925828
dbSNP
145737636 4279.19 A G PASS 1/1 178 SYNONYMOUS_CODING LOW SILENT 0.94609 0.94610 0.00159 None None None None None None None

WRN

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 8 rs1800389
dbSNP
30924557 1740.4 C T PASS 0/1 141 SYNONYMOUS_CODING LOW SILENT 0.68730 0.68730 0.34630 None None None None None None None
View pc751_s1 8 rs1801196
dbSNP
31024638 4151.98 C T PASS 1/1 157 SYNONYMOUS_CODING LOW SILENT 0.27356 0.27360 0.28210 None None None None None None None
View pc751_s1 8 rs1800391
dbSNP
30938704 1464.7 G A PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04692 0.04692 0.05751 0.16 0.04 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 8 rs445114
dbSNP
128323181 1323.3 T C PASS 0/1 113 None None None 0.50879 0.50880 None None None None None None None
View pc751_s1 8 rs2456449
dbSNP
128192981 1008.73 A G PASS 0/1 97 None None None 0.30831 0.30830 None None None None None None None
View pc751_s1 8 rs1456315
dbSNP
128103937 496.22 T C PASS 0/1 69 None None None 0.50320 0.50320 None None None None None None None
View pc751_s1 8 rs1016343
dbSNP
128093297 911.88 C T PASS 0/1 88 None None None 0.20607 0.20610 None None None None None None None
View pc751_s1 8 rs2439302
dbSNP
32432369 863.75 G C PASS 0/1 87 None None None 0.58886 0.58890 None None None None None None None
View pc751_s1 8 rs1512268
dbSNP
23526463 2825.31 T C PASS 1/1 114 None None None 0.51318 0.51320 None None None None None None None
View pc751_s1 8 rs1495741
dbSNP
18272881 2608.17 G A PASS 1/1 95 None None None 0.64497 0.64500 None None None None None None None
View pc751_s1 8 rs2294008
dbSNP
143761931 614.58 C T PASS 0/1 54 START_GAINED LOW 0.40515 0.40520 0.41872 None None None None None None None
View pc751_s1 8 rs10088218
dbSNP
129543949 1210.02 G A PASS 0/1 115 None None None 0.08666 0.08666 None None None None None None None
View pc751_s1 8 rs7837688
dbSNP
128539360 1794.81 T G PASS 1/1 76 None None None 0.89417 0.89420 None None None None None None None
View pc751_s1 8 rs4242384
dbSNP
128518554 1725.42 C A PASS 1/1 69 None None None 0.87360 0.87360 None None None None None None None
View pc751_s1 8 rs4242382
dbSNP
128517573 2833.8 A G PASS 1/1 111 None None None 0.81270 0.81270 None None None None None None None
View pc751_s1 8 rs1447295
dbSNP
128485038 3210.3 A C PASS 1/1 126 None None None 0.81889 0.81890 None None None None None None None
View pc751_s1 8 rs1562430
dbSNP
128387852 740.55 T C PASS 0/1 89 None None None 0.32049 0.32050 None None None None None None None
View pc751_s1 8 rs13281615
dbSNP
128355618 608.36 A G PASS 0/1 70 None None None 0.49121 0.49120 None None None None None None None