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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
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 19
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 v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs10147275
dbSNP Clinvar 		62213553 1293.4 T G PASS 1/1 141 None None None 0.76358 0.76360 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs8004738
dbSNP Clinvar 		94856914 462.362 G A PASS 0/1 220 START_GAINED LOW None 0.57648 0.57650 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs1015447
dbSNP Clinvar 		62164248 961.332 C T PASS 1/1 101 None None None 0.92812 0.92810 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs10873142
dbSNP Clinvar 		62203462 220.868 C T PASS 1/1 24 None None None 0.61402 0.61400 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs10138153
dbSNP Clinvar 		62205175 832.226 T C PASS 1/1 87 None None None 0.93530 0.93530 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs4902080
dbSNP Clinvar 		62208005 136.307 T C PASS 1/1 15 None None None 0.81889 0.81890 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 . 62211606 302.545 TGTG T,... PASS 1/1 46 None None None None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs2057482
dbSNP Clinvar 		62213848 2586.5 T C PASS 1/1 273 None None None 0.75759 0.75760 0.21382 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs5809121,rs397897404
dbSNP Clinvar 		62213929 1043.48 A AT PASS 1/1 115 None None None 0.76258 0.76260 None None None None None None None
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs11568814
dbSNP Clinvar 		94843455 1079.89 C T PASS 0/1 512 None None None 0.07248 0.07248 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs11832
dbSNP Clinvar 		94843565 772.643 T C PASS 0/1 344 None None None 0.66254 0.66250 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs1243166
dbSNP Clinvar 		94843818 388.189 A G PASS 0/1 180 None None None 0.69629 0.69630 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs1051052
dbSNP Clinvar 		94843932 1182.34 A G PASS 1/1 131 None None None 0.46506 0.46510 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 . 94849609 31.0452 CG GC PASS 0/1 9 None None None None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs1243160
dbSNP Clinvar 		94854877 901.211 G A PASS 0/1 520 None None None 0.14058 0.14060 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs17090745
dbSNP Clinvar 		94856589 954.159 C A PASS 0/1 346 None None None 0.01797 0.01797 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs1570141
dbSNP Clinvar 		94856637 3359.61 A G PASS 1/1 358 None None None 0.69030 0.69030 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs17751769
dbSNP Clinvar 		94856657 586.865 G A PASS 0/1 364 None None None 0.49740 0.49740 None None None None None None SERPINA1|0.003285699|88.1%
View v2649_v1_non-filtered_2017-07-24_10_39_21 14 rs8008743
dbSNP Clinvar 		94857010 965.344 C G PASS 0/1 441 START_GAINED LOW None 0.58187 0.58190 None None None None None None SERPINA1|0.003285699|88.1%
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