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

GP6,
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)

Genes at Clinical Genomics Database

GP6,
GP6 Bleeding disorder, platelet-type, 11

Genes at HGMD

Summary

Number of Variants: 13
Number of Genes: 1

Export to: CSV

GP6

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 hp37_1_filt_10x 19 rs892090
dbSNP
55539072 681.77 T G PASS 1/1 29 SYNONYMOUS_CODING LOW SILENT 0.84265 0.84270 0.18208 None None None None None None None
View hp37_1_filt_10x 19 rs892089
dbSNP
55539061 644.77 A G PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT 0.73243 0.73240 0.24976 None None None None None None None
View hp37_1_filt_10x 19 rs1654425
dbSNP
55538980 379.77 T C PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.90715 0.90710 0.11990 None None None None None None None
View hp37_1_filt_10x 19 rs1613662
dbSNP
55536595 495.77 G A PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84265 0.84270 0.17496 0.40 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs1654416
dbSNP
55530035 973.77 C T PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74361 0.74360 0.23382 1.00 0.01 None None None None None None None
View hp37_1_filt_10x 19 rs2304167
dbSNP
55527081 432.77 C T PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71346 0.71350 0.26905 0.01 0.09 None None None None None None None
View hp37_1_filt_10x 19 rs2304166
dbSNP
55526373 559.77 G C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38459 0.38460 0.48751 0.00 0.91 None None None None None None None
View hp37_1_filt_10x 19 rs1654413
dbSNP
55526359 672.77 A T PASS 1/1 26 SYNONYMOUS_CODING LOW SILENT 0.72484 0.72480 0.25510 None None None None None None None
View hp37_1_filt_10x 19 rs1671152
dbSNP
55526345 840.77 T G PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82308 0.82310 0.20234 1.00 0.00 None None None None None None None
View hp37_1_filt_10x 19 rs1671151
dbSNP
55525894 1590.77 G A PASS 1/1 58 SYNONYMOUS_CODING LOW SILENT 0.71765 0.71770 0.26629 None None None None None None None
View hp37_1_filt_10x 19 rs1654412
dbSNP
55525596 575.77 T C PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71665 0.71670 0.26586 0.00 0.29 None None None None None None None
View hp37_1_filt_10x 19 rs10418074
dbSNP
55525586 180.77 C T PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07628 0.07628 0.05618 0.00 0.14 None None None None None None None
View hp37_1_filt_10x 19 rs1671150
dbSNP
55525497 1084.77 A G PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72664 0.72660 0.19430 0.52 0.00 None None None None None None None