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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 34
Number of Genes: 0

Export to: CSV
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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 proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 1 rs1883768
dbSNP Clinvar
6165419 1565.16 C T PASS 1|0 71 MOTIF[MA0139.1:CTCF] MODIFIER None 0.13838 0.13840 None None None None None None CHD5|0.117473003|47.85%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 1 rs61810914
dbSNP Clinvar
144621555 343.16 A G HARD_TO_VALIDATE 1|0 171 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 8 rs4841558
dbSNP Clinvar
11415597 2296.92 C T PASS 0/1 64 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.38867 None None None None None None BLK|0.095762795|51.98%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 8 rs1042701
dbSNP Clinvar
11422045 455.13 G A PASS 0|1 32 MOTIF[MA0139.1:CTCF] MODIFIER None 0.24002 0.24000 None None None None None None BLK|0.095762795|51.98%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 8 rs759659289
dbSNP Clinvar
12517016 805.88 TC... T PASS 0/1 60 MOTIF[MA0139.1:CTCF] LOW None None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 8 rs2002368
dbSNP Clinvar
12517027 2589.92 C G PASS 0/1 57 MOTIF[MA0139.1:CTCF] MODIFIER None 0.36681 0.36680 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 8 rs747534222
dbSNP Clinvar
12517038 1139.92 T G PASS 0/1 65 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 10 rs189296033
dbSNP Clinvar
47667516 856.13 C A PASS 0|1 83 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00120 0.00120 None None None None None None ANTXRL|0.000107209|99.93%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 11 rs111685844
dbSNP Clinvar
3430143 981.92 C T PASS 0/1 28 MOTIF[MA0139.1:CTCF] MODIFIER None 0.06470 0.06470 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 11 rs2074039
dbSNP Clinvar
44092880 1418.16 C T PASS 0|1 82 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09345 0.09345 0.11203 None None None None None None ACCS|0.034927707|67.49%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 13 rs67765306
dbSNP Clinvar
40229842 3863.09 A AG PASS 1|1 54 MOTIF[MA0139.1:CTCF] LOW None 0.44369 0.44370 0.38268 None None None None None None COG6|0.303873453|27.36%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 14 rs56103835
dbSNP Clinvar
101522556 1495.16 T C PASS 1|0 83 MOTIF[MA0139.1:CTCF] MODIFIER None 0.29792 0.29790 0.15757 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 16 rs9934889
dbSNP Clinvar
19422019 109.73 A C PASS 1|1 3 MOTIF[MA0139.1:CTCF] MODIFIER None 0.85623 0.85620 None None None None None None TMC5|0.020155456|74.1%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 16 rs2650492
dbSNP Clinvar
28333411 85.01 G A LowQual 0|1 7 MOTIF[MA0139.1:CTCF] MODIFIER None 0.11322 0.11320 None None None None None None SBK1|0.072630936|56.87%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 17 rs867930287
dbSNP Clinvar
60342600 1254.92 T G HARD_TO_VALIDATE 0/1 23 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47684 0.47680 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 19 rs735524
dbSNP Clinvar
1244518 77.69 G C LowQual 0|1 9 MOTIF[MA0139.1:CTCF] MODIFIER None 0.09125 0.09125 None None None None None None ATP5D|0.031807331|68.69%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 22 rs144876030
dbSNP Clinvar
38318465 127.13 C T PASS 0|1 17 MOTIF[MA0139.1:CTCF] MODIFIER None 0.02895 0.02895 0.02412 None None None None None None MICALL1|0.039548574|65.89%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father X rs62599865
dbSNP Clinvar
134155904 539.9 G T PASS 1|1 13 MOTIF[MA0139.1:CTCF] MODIFIER None 0.28027 0.28030 None None None None None None FAM127C|0.009218146|81.5%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father X rs72616452
dbSNP Clinvar
153010059 53.14 G T LowQual 1|1 4 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None ABCD1|0.05959621|59.98%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 17 rs868186438
dbSNP Clinvar
60342605 1687.16 G A HARD_TO_VALIDATE 1|1 21 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 11 rs575375
dbSNP Clinvar
64535357 592.98 T C PASS 1|1 6 MOTIF[MA0139.1:CTCF] MODIFIER None 0.96865 0.96870 0.03041 None None None None None None SF1|0.639225523|10.49%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 14 rs6109
dbSNP Clinvar
95058360 955.91 A G PASS 1|1 11 MOTIF[MA0139.1:CTCF] MODIFIER None 0.63099 0.63100 0.22036 None None None None None None SERPINA5|0.010727799|80.35%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 15 rs2253603
dbSNP Clinvar
40565055 131.13 G A PASS 0|1 19 MOTIF[MA0139.1:CTCF] MODIFIER None 0.45447 0.45450 0.42673 None None None None None None PAK6|0.183662894|38.57%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 17 rs820387
dbSNP Clinvar
73746146 4002.13 T C PASS 1|0 63 MOTIF[MA0139.1:CTCF] MODIFIER None 0.74062 0.74060 0.21313 None None None None None None ITGB4|0.346553835|24.38%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 20 rs73271169
dbSNP Clinvar
48506697 153.32 T C PASS 1|1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.17512 0.17510 None None None None None None SLC9A8|0.313418914|26.55%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 21 rs8130574
dbSNP Clinvar
45180422 170.32 G A PASS 1|1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.80132 0.80130 None None None None None None PDXK|0.079279748|55.34%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 2 rs843705
dbSNP Clinvar
54481592 77.76 C G LowQual 1|1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50619 0.50620 None None None None None None ACYP2|0.067344086|58.08%,TSPYL6|0.001250679|94.15%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 2 rs11688501
dbSNP Clinvar
130783696 68.15 T C LowQual 1|1 4 MOTIF[MA0139.1:CTCF] MODIFIER None 0.50499 0.50500 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 4 . 90228732 60.53 C A LowQual 1|1 2 MOTIF[MA0139.1:CTCF] MODIFIER None None None None None None None GPRIN3|0.003353372|88%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 4 rs2116326
dbSNP Clinvar
90228736 114.02 A G PASS 1|1 2 MOTIF[MA0139.1:CTCF] MODIFIER None 0.05252 0.05252 None None None None None None GPRIN3|0.003353372|88%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 10 rs2275113
dbSNP Clinvar
120938384 127.21 G A PASS 1|0 10 MOTIF[MA0139.1:CTCF] MODIFIER None 0.00599 0.00599 None None None None None None None
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 17 rs2189336
dbSNP Clinvar
5326162 4358.13 G A PASS 1|1 42 MOTIF[MA0139.1:CTCF] MODIFIER None 0.77875 0.77880 0.39428 None None None None None None RPAIN|0.023237381|72.57%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 19 rs2301669
dbSNP Clinvar
19453560 1788.16 C A PASS 1|0 38 MOTIF[MA0139.1:CTCF] MODIFIER None 0.52436 0.52440 0.42822 None None None None None None MAU2|0.230960956|33.29%
View proie_c_prob_raw_snps_indels_hapcall_genotype_filtered_phased g Proie_L_father 22 rs113629387
dbSNP Clinvar
23657939 3171.16 T C PASS 1|0 66 MOTIF[MA0139.1:CTCF] MODIFIER None 0.47125 0.47120 None None None None None None BCR|0.805888971|5.65%
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