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

PDE6C,
PDE6C Cone dystrophy 4, 613093 (3)

Genes at Clinical Genomics Database

PDE6C,
PDE6C Cone dystrophy 4

Genes at HGMD

Summary

Number of Variants: 505
Number of Genes: 2

Export to: CSV

PDE6C

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 552117_ngs_ex 10 rs368349901
dbSNP Clinvar
95381766 0.0 G A PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None PDE6C|0.166887105|40.7%

WDFY4

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 552117_ngs_ex 10 . 50189523 0.0 C T PASS 0/1 96 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00 0.93 None None None None None None WDFY4|0.061116122|59.55%
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 552117_ngs_ex 10 . 63214777 0.0 A T PASS 1/1 83 None None None None None None None None None None
View 552117_ngs_ex 10 . 249013 0.0 A G PASS 1/1 57 None None None None None None None None None None
View 552117_ngs_ex 10 . 277343 0.0 A G sbF 0/1 68 None None None None None None None None None None
View 552117_ngs_ex 10 . 349362 0.0 G A sbF 0/1 68 None None None None None None None None None DIP2C|0.162764549|41.18%
View 552117_ngs_ex 10 . 399121 0.0 C T PASS 1/1 69 None None None None None None None None None DIP2C|0.162764549|41.18%
View 552117_ngs_ex 10 . 3776702 0.0 CA C PASS 0/1 45 None None None None None None None None None None
View 552117_ngs_ex 10 . 3776932 0.0 CT C PASS 0/1 53 None None None None None None None None None None
View 552117_ngs_ex 10 . 3777129 0.0 T TA PASS 0/1 69 None None None None None None None None None None
View 552117_ngs_ex 10 . 3777522 0.0 C T PASS 1/1 69 None None None None None None None None None None
View 552117_ngs_ex 10 . 3778595 0.0 T C PASS 1/1 45 None None None None None None None None None None
View 552117_ngs_ex 10 . 3779314 0.0 G A PASS 0/1 35 None None None None None None None None None None
View 552117_ngs_ex 10 . 4991824 0.0 T C sbF 0/1 40 None None None None None None None None None AKR1C1|0.0017482|91.68%
View 552117_ngs_ex 10 . 4999206 0.0 T C sbF 0/1 80 None None None None None None None None None AKR1C1|0.0017482|91.68%
View 552117_ngs_ex 10 . 5094459 0.0 C G PASS 0/1 24 None None None None None None None None None AKR1C3|0.002438134|89.81%
View 552117_ngs_ex 10 . 5096415 0.0 G A PASS 0/1 54 None None None None None None None None None AKR1C3|0.002438134|89.81%
View 552117_ngs_ex 10 . 5097493 0.0 G A PASS 1/1 92 None None None None None None None None None AKR1C3|0.002438134|89.81%
View 552117_ngs_ex 10 . 5213062 0.0 A G PASS 1/1 90 None None None None None None None None None None
View 552117_ngs_ex 10 . 5909062 0.0 T C PASS 1/1 100 None None None None None None None None None ANKRD16|0.021840736|73.25%
View 552117_ngs_ex 10 . 5936448 0.0 T C sbF 1/1 103 None None None None None None None None None FBXO18|0.06871025|57.79%
View 552117_ngs_ex 10 . 6024237 0.0 C G PASS 0/1 15 None None None None None None None None None None
View 552117_ngs_ex 10 . 14932844 0.0 G A sbF 0/1 34 None None None None None None None None None SUV39H2|0.645784795|10.24%
View 552117_ngs_ex 10 . 14932906 0.0 T C PASS 0/1 73 None None None None None None None None None SUV39H2|0.645784795|10.24%
View 552117_ngs_ex 10 . 13110400 0.0 T A PASS 0/1 70 None None None None None None None None None CCDC3|0.140056392|44.39%
View 552117_ngs_ex 10 . 13116262 0.0 C T PASS 1/1 49 None None None None None None None None None CCDC3|0.140056392|44.39%
View 552117_ngs_ex 10 . 13288402 0.0 T C PASS 0/1 98 None None None None None None None None None None
View 552117_ngs_ex 10 . 13295588 0.0 G A PASS 1/1 44 None None None None None None None None None None
View 552117_ngs_ex 10 . 13298236 0.0 G A PASS 0/1 46 None None None None None None None None None None
View 552117_ngs_ex 10 . 14934415 0.0 G A PASS 0/1 35 None None None None None None None None None SUV39H2|0.645784795|10.24%
View 552117_ngs_ex 10 . 16840519 0.0 T C PASS 1/1 37 None None None None None None None None None RSU1|0.403242068|20.58%
View 552117_ngs_ex 10 . 16901372 0.0 G C sbF 1/1 50 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 16925402 0.0 C T PASS 1/1 92 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 16982504 0.0 G A PASS 1/1 48 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 16982616 0.0 A T PASS 1/1 20 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 17045025 0.0 G A PASS 0/1 57 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 17068596 0.0 G A PASS 0/1 54 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 17105522 0.0 G T PASS 0/1 48 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 17110995 0.0 G A PASS 0/1 69 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 17114152 0.0 A G PASS 0/1 36 None None None None None None None None None CUBN|0.033721807|67.86%
View 552117_ngs_ex 10 . 17849701 0.0 G A PASS 1/1 80 None None None None None None None None None None
View 552117_ngs_ex 10 . 17849710 0.0 A G PASS 1/1 76 None None None None None None None None None None
View 552117_ngs_ex 10 . 17863686 0.0 C T PASS 1/1 88 None None None None None None None None None MRC1|0.022703886|72.84%
View 552117_ngs_ex 10 . 17863686 0.0 C T PASS 1/1 88 None None None None None None None None None MRC1|0.022703886|72.84%
View 552117_ngs_ex 10 . 17907664 0.0 A T PASS 1/1 71 None None None None None None None None None MRC1|0.022703886|72.84%
View 552117_ngs_ex 10 . 17907664 0.0 A T PASS 1/1 71 None None None None None None None None None MRC1|0.022703886|72.84%
View 552117_ngs_ex 10 . 18527636 0.0 G A PASS 0/1 40 None None None None None None None None None CACNB2|0.445418011|18.41%
View 552117_ngs_ex 10 . 21172481 0.0 G GA PASS 0/1 43 None None None None None None None None None NEBL|0.384110937|21.79%
View 552117_ngs_ex 10 . 26066977 0.0 G A PASS 1/1 29 None None None None None None None None None None
View 552117_ngs_ex 10 . 26067063 0.0 A G PASS 1/1 33 None None None None None None None None None None
View 552117_ngs_ex 10 . 26068818 0.0 C T sbF 1/1 29 None None None None None None None None None None
View 552117_ngs_ex 10 . 26068819 0.0 G A sbF 1/1 29 None None None None None None None None None None
View 552117_ngs_ex 10 . 27541504 0.0 G A PASS 0/1 65 MOTIF[MA0162.1:Egr1] MODIFIER None None None None None None None None
View 552117_ngs_ex 10 . 27541635 0.0 CT C sbF 0/1 57 None None None None None None None None None None
View 552117_ngs_ex 10 . 26068891 0.0 C T PASS 1/1 24 None None None None None None None None None None
View 552117_ngs_ex 10 . 26088402 0.0 C T PASS 0/1 23 None None None None None None None None None None
View 552117_ngs_ex 10 . 26096649 0.0 G A PASS 0/1 45 None None None None None None None None None None
View 552117_ngs_ex 10 . 26157383 0.0 G A PASS 1/1 73 None None None None None None None None None None
View 552117_ngs_ex 10 . 26168708 0.0 T C sbF 0/1 30 None None None None None None None None None None
View 552117_ngs_ex 10 . 26173861 0.0 G A PASS 0/1 54 None None None None None None None None None None
View 552117_ngs_ex 10 . 26174114 0.0 A T sbF 0/1 89 None None None None None None None None None None
View 552117_ngs_ex 10 . 26174201 0.0 C A PASS 0/1 73 None None None None None None None None None None
View 552117_ngs_ex 10 . 26216893 0.0 G A PASS 0/1 54 None None None None None None None None None None
View 552117_ngs_ex 10 . 27044192 0.0 TA T PASS 0/1 26 None None None None None None None None None ABI1|0.696516769|8.59%
View 552117_ngs_ex 10 . 27100268 0.0 T C PASS 1/1 33 None None None None None None None None None ABI1|0.696516769|8.59%
View 552117_ngs_ex 10 . 27170741 0.0 C T PASS 1/1 85 None None None None None None None None None None
View 552117_ngs_ex 10 . 27186515 0.0 T C PASS 1/1 51 None None None None None None None None None None
View 552117_ngs_ex 10 . 27195817 0.0 T C PASS 1/1 42 None None None None None None None None None None
View 552117_ngs_ex 10 . 27196549 0.0 CGT C PASS 1/1 104 None None None None None None None None None None
View 552117_ngs_ex 10 . 27219829 0.0 T C PASS 1/1 42 None None None None None None None None None None
View 552117_ngs_ex 10 . 27398846 0.0 T C sbF 1/1 100 None None None None None None None None None None
View 552117_ngs_ex 10 . 27399036 0.0 A G PASS 1/1 95 None None None None None None None None None None
View 552117_ngs_ex 10 . 27399065 0.0 A G PASS 1/1 86 None None None None None None None None None None
View 552117_ngs_ex 10 . 27399180 0.0 T C PASS 1/1 60 None None None None None None None None None None
View 552117_ngs_ex 10 . 27403350 0.0 A C PASS 0/1 37 None None None None None None None None None YME1L1|0.744542525|7.24%
View 552117_ngs_ex 10 . 27413327 0.0 G GC PASS 0/1 132 None None None None None None None None None YME1L1|0.744542525|7.24%
View 552117_ngs_ex 10 . 27541344 0.0 CT C sbF 0/1 57 None None None None None None None None None None
View 552117_ngs_ex 10 . 27541854 0.0 G GT PASS 1/1 88 None None None None None None None None None None
View 552117_ngs_ex 10 . 28089829 0.0 T C PASS 0/1 37 None None None None None None None None None ARMC4|0.02617115|71.23%
View 552117_ngs_ex 10 . 30027143 0.0 C G PASS 0/1 39 None None None None None None None None None None
View 552117_ngs_ex 10 . 30027279 0.0 T C PASS 0/1 27 None None None None None None None None None None
View 552117_ngs_ex 10 . 30027943 0.0 T C PASS 0/1 36 None None None None None None None None None None
View 552117_ngs_ex 10 . 30029020 0.0 C T sbF 0/1 19 None None None None None None None None None None
View 552117_ngs_ex 10 . 30047743 0.0 C T PASS 0/1 66 None None None None None None None None None None
View 552117_ngs_ex 10 . 32023041 0.0 A G PASS 1/1 28 None None None None None None None None None None
View 552117_ngs_ex 10 . 43100520 0.0 A G PASS 0/1 80 None None None None None None None None None ZNF33B|0.007642273|82.91%
View 552117_ngs_ex 10 . 43100731 0.0 G A PASS 0/1 76 None None None None None None None None None ZNF33B|0.007642273|82.91%
View 552117_ngs_ex 10 . 43111239 0.0 A G sbF 1/1 58 None None None None None None None None None ZNF33B|0.007642273|82.91%
View 552117_ngs_ex 10 . 48978370 0.0 C T PASS 0/1 65 None None None None None None None None None None
View 552117_ngs_ex 10 . 43118395 0.0 G T sbF 1/1 65 None None None None None None None None None ZNF33B|0.007642273|82.91%
View 552117_ngs_ex 10 . 43120185 0.0 C G PASS 0/1 54 None None None None None None None None None ZNF33B|0.007642273|82.91%
View 552117_ngs_ex 10 . 47349321 0.0 G A PASS 0/1 110 None None None None None None None None None None
View 552117_ngs_ex 10 . 48790779 0.0 C T sbF 1/1 72 None None None None None None None None None None
View 552117_ngs_ex 10 . 48805357 0.0 T C PASS 1/1 34 None None None None None None None None None None
View 552117_ngs_ex 10 . 48813995 0.0 G A PASS 1/1 153 None None None None None None None None None None
View 552117_ngs_ex 10 . 48817401 0.0 G T PASS 1/1 70 None None None None None None None None None None
View 552117_ngs_ex 10 . 48820263 0.0 C T PASS 1/1 115 None None None None None None None None None None
View 552117_ngs_ex 10 . 48826788 0.0 G A PASS 1/1 85 None None None None None None None None None None
View 552117_ngs_ex 10 . 48830755 0.0 A G sbF 1/1 24 None None None None None None None None None None
View 552117_ngs_ex 10 . 48830833 0.0 G C PASS 1/1 23 None None None None None None None None None None