SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
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SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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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
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RESET FILTER | Save Config | Save Analysis

Genes at Omim

ADH1C, NPSR1,
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: 20
Number of Genes: 20

Export to: CSV
  • Page 1 of 1

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 75_filt_10x 4 rs283413
dbSNP Clinvar
100268190 540.77 A C PASS 1/1 21 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

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 75_filt_10x 17 rs4605228
dbSNP Clinvar
20768730 144.77 A G PASS 0/1 161 STOP_LOST HIGH None 0.01018 0.01018 -0.66 None None None None None None CCDC144NL|0.000779475|96.79%

DNAH14

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 75_filt_10x 1 rs41305733
dbSNP Clinvar
225586971 363.77 A T PASS 0/1 33 STOP_LOST HIGH None 0.00200 0.00200 0.00876 3.43 None None None None None None DNAH14|0.006049116|84.53%

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 75_filt_10x 4 rs358231
dbSNP Clinvar
22820504 232.77 A T PASS 0/1 16 STOP_LOST HIGH None 0.89157 0.89160 0.11608 0.67 None None None None None None None

IDI2

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 75_filt_10x 10 rs41314629
dbSNP Clinvar
1065457 438.77 T A PASS 0/1 42 STOP_LOST HIGH None 0.06849 0.06849 0.06512 1.88 None None None None None None GTPBP4|0.204407833|36.18%,IDI2|0.000337441|99.25%

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 75_filt_10x 2 rs10205459
dbSNP Clinvar
172180771 1772.77 A G PASS 1/1 79 STOP_LOST HIGH None 0.99820 0.99820 0.00241 None None None None None None METTL8|0.246340052|31.91%

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 75_filt_10x 19 rs306457
dbSNP Clinvar
56499279 582.77 G C PASS 1/1 24 STOP_LOST HIGH None 0.72464 0.72460 0.26672 -0.54 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 75_filt_10x 7 rs10275028
dbSNP Clinvar
34889222 340.77 T C PASS 0/1 66 STOP_LOST HIGH None 0.26717 0.26720 0.36353 -0.26 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 75_filt_10x 12 rs15895
dbSNP Clinvar
113448288 1436.77 A G PASS 1/1 61 STOP_LOST HIGH None 0.86442 0.86440 0.25027 0.32 None None None None None None OAS2|0.001433626|93.17%

OR11H7

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 75_filt_10x 14 rs1953558
dbSNP Clinvar
20698239 1854.77 T C PASS 1/1 61 STOP_LOST HIGH None 0.46426 0.46430 None None None None None None None

OR12D1

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 75_filt_10x 6 rs1011985
dbSNP Clinvar
29385772 1115.77 G C PASS 1/1 40 STOP_LOST HIGH None 0.76837 0.76840 None None None None None None OR5V1|0.002888171|88.86%

OR13C7P

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 75_filt_10x 9 rs10814311
dbSNP Clinvar
36003306 146.77 A T PASS 0/1 19 STOP_LOST HIGH None 0.17951 0.17950 None None None None None None None

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 75_filt_10x 6 rs4535533
dbSNP Clinvar
57467100 983.77 G C PASS 0/1 62 STOP_LOST HIGH None None None None None None None PRIM2|0.188824743|37.96%

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 75_filt_10x 10 rs2505323
dbSNP Clinvar
27687225 1832.77 A G PASS 1/1 81 STOP_LOST HIGH None 0.55012 0.55010 0.36821 0.31 None None None None None None PTCHD3|0.001856639|91.39%

SERPINB11

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 75_filt_10x 18 rs4940595
dbSNP Clinvar
61379838 1628.77 T G PASS 1/1 65 STOP_LOST HIGH None 0.34001 None None None None None None SERPINB11|0.015027277|77.1%

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 75_filt_10x 6 rs2842899
dbSNP Clinvar
132859609 1106.77 T A PASS 1/1 42 STOP_LOST HIGH None 0.80571 0.80570 0.23857 None None None None None None None

TAS2R19

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 75_filt_10x 12 rs79475879
dbSNP Clinvar
11174271 397.77 T C PASS 0/1 108 STOP_LOST HIGH None 1.70 None None None None None None PRR4|0.000493683|98.46%,TAS2R14|0.00022192|99.72%,TAS2R19|0.000335865|99.27%

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 75_filt_10x 2 rs4240199
dbSNP Clinvar
85549868 1749.77 A G PASS 1/1 72 STOP_LOST HIGH None 0.77895 0.77900 0.33657 0.04 0.89 1.27 None None None None None None TGOLN2|0.000615886|97.82%

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 75_filt_10x 11 rs9795469
dbSNP Clinvar
65713207 543.77 T C PASS 1/1 23 STOP_LOST HIGH None 0.99940 0.99940 0.00072 None None None None None None None

ZNF443

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 75_filt_10x 19 rs28559848
dbSNP Clinvar
12540971 770.77 T A PASS 0/1 120 STOP_LOST HIGH None 0.27676 0.27680 0.95 None None None None None None ZNF443|0.000694602|97.28%
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