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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

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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
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Genes at Omim

ACTN3, ADH1C, NPSR1,
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 22
Number of Genes: 22

Export to: CSV
  • Page 1 of 1

ACTN3

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 11 rs1815739
dbSNP Clinvar
66328095 2945.92 T C PASS 0/1 98 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None

ADH1C

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 4 rs283413
dbSNP Clinvar
100268190 3141.9 A C PASS 1|1 26 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ANKRD30BL

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 2 rs142209162
dbSNP Clinvar
132905706 5138.92 A G PASS 0/1 109 STOP_LOST HIGH None None None None None None None ANKRD30BL|0.00124875|94.17%

CCDC144NL

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 17 rs4605228
dbSNP Clinvar
20768730 280.92 A G HARD_TO_VALIDATE 0/1 81 STOP_LOST HIGH None 0.01018 0.01018 None None None None None None CCDC144NL|0.000779475|96.79%

CEP89

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 19 rs745961
dbSNP Clinvar
33370070 1159.92 A G PASS 1|1 7 STOP_LOST HIGH None 0.16434 0.16430 0.27134 None None None None None None CEP89|0.007695004|82.86%

FOXD4

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 9 rs79220013
dbSNP Clinvar
116800 224.13 C G PASS 0|1 25 STOP_LOST HIGH None 0.20310 0.03 None None None None None None FOXD4|0.006056969|84.51%

GBA3

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 4 rs358231
dbSNP Clinvar
22820504 3578.16 A T PASS 1|1 80 STOP_LOST HIGH None 0.89157 0.89160 0.11608 None None None None None None None

LEPREL2

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 12 rs1129649
dbSNP Clinvar
6948468 1271.92 T C PASS 0/1 44 STOP_LOST HIGH None 0.37879 0.37880 0.34588 0.45 0.00 None None None None None None P3H3|0.042788046|64.86%

METTL8

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 2 rs10205459
dbSNP Clinvar
172180771 8847.9 A G PASS 1|1 120 STOP_LOST HIGH None 0.99820 0.99820 0.00241 None None None None None None METTL8|0.246340052|31.91%

MROH5

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 8 rs6578185
dbSNP Clinvar
142458053 2203.92 A G PASS 0/1 68 STOP_LOST HIGH None 0.34645 0.34640 0.40823 None None None None None None MROH5|0.004135597|86.82%

NLRP8

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 19 rs306457
dbSNP Clinvar
56499279 3040.92 G C PASS 0/1 82 STOP_LOST HIGH None 0.72464 0.72460 0.26672 None None None None None None NLRP8|0.000383915|99.05%

NPSR1

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 7 rs10275028
dbSNP Clinvar
34889222 1789.16 T C PASS 1|0 111 STOP_LOST HIGH None 0.26717 0.26720 0.36353 None None None None None None NPSR1|0.153358604|42.47%

OAS2

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 12 rs15895
dbSNP Clinvar
113448288 6048.9 A G PASS 1|1 65 STOP_LOST HIGH None 0.86442 0.86440 0.25027 None None None None None None OAS2|0.001433626|93.17%

OR52E8

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 11 rs12419602
dbSNP Clinvar
5877979 334.55 T A PASS 1|0 9 STOP_LOST HIGH None 0.37480 0.37480 0.41063 None None None None None None TRIM5|0.00243037|89.82%,OR52E8|0.008250943|82.4%

PKD1L2

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 16 rs8054182
dbSNP Clinvar
81145807 10694.9 C G PASS 1|1 100 STOP_LOST HIGH None 0.83666 0.83670 0.08046 None None None None None None PKD1L2|0.005531409|85.17%

PRIM2

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 6 rs4535533
dbSNP Clinvar
57467100 11911.9 G C PASS 0/1 168 STOP_LOST HIGH None None None None None None None PRIM2|0.188824743|37.96%

PSG7

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 19 rs113247044
dbSNP Clinvar
43439694 2486.16 A G PASS 1|0 98 STOP_LOST HIGH None 0.13958 0.13960 0.18197 None None None None None None None

PTCHD3

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 10 rs2505323
dbSNP Clinvar
27687225 1507.13 A G PASS 1|1 16 STOP_LOST HIGH None 0.55012 0.55010 0.36821 None None None None None None PTCHD3|0.001856639|91.39%

TAAR9

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 6 rs2842899
dbSNP Clinvar
132859609 2289.9 T A PASS 1|1 67 STOP_LOST HIGH None 0.80571 0.80570 0.23857 None None None None None None None

TGOLN2

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 2 rs4240199
dbSNP Clinvar
85549868 1896.61 A G PASS 1|0 56 STOP_LOST HIGH None 0.77895 0.77900 0.33657 0.04 0.00 None None None None None None TGOLN2|0.000615886|97.82%

TMEM120A

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 7 rs4732519
dbSNP Clinvar
75621827 7148.9 A G PASS 1|1 78 STOP_LOST HIGH None 1.00000 1.00000 None None None None None None None

TSGA10IP

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 11 rs9795469
dbSNP Clinvar
65713207 7040.9 T C PASS 1|1 100 STOP_LOST HIGH None 0.99940 0.99940 0.00072 None None None None None None None
  • Page 1 of 1