+ Filter Options

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
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+ Genes 2

Genes:
COL6A3, STK36,

+ Genes associated with diseases 1

Genes at Omim

COL6A3,
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)

Genes at Clinical Genomics Database

COL6A3,
COL6A3 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
Dystonia 27

Genes at HGMD

Summary

Number of Variants: 554
Number of Genes: 2

Export to: CSV

COL6A3
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 552217_ngs_ex annotated mendelmd 2 . 238256995 0.0 C T PASS 0/1 87 SYNONYMOUS_CODING LOW None None None None None None None COL6A3|0.068829768|57.76%

STK36
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 552217_ngs_ex annotated mendelmd 2 . 219554617 0.0 T C PASS 1/1 92 NON_SYNONYMOUS_CODING MODERATE None None None None None None None STK36|0.159611866|41.62%
View 552217_ngs_ex annotated mendelmd 2 . 219557964 0.0 C T sbF 0/1 88 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None STK36|0.159611866|41.62%
View 552217_ngs_ex annotated mendelmd 2 . 219558052 0.0 A G PASS 1/1 97 NON_SYNONYMOUS_CODING MODERATE None None None None None None None STK36|0.159611866|41.62%
View 552217_ngs_ex annotated mendelmd 2 . 219562625 0.0 G T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.87 None None None None None None STK36|0.159611866|41.62%
View 552217_ngs_ex annotated mendelmd 2 . 219562673 0.0 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None None None None None None None STK36|0.159611866|41.62%
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 552217_ngs_ex annotated mendelmd 2 . 181536860 0.0 C T sbF 0/1 23 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 181537025 0.0 G A PASS 0/1 38 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 181537304 0.0 C T PASS 1/1 89 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 181538063 0.0 G A PASS 0/1 44 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 233682329 0.0 G A PASS 1/1 19 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233682559 0.0 T C PASS 0/1 13 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233693023 0.0 T G PASS 0/1 51 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233693319 0.0 A G PASS 0/1 114 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233693545 0.0 A G sbF 0/1 91 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233693556 0.0 A C sbF 0/1 91 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233713464 0.0 C G PASS 0/1 16 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233713636 0.0 C T PASS 0/1 19 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233713648 0.0 C T PASS 0/1 19 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233713664 0.0 C T PASS 0/1 20 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233713733 0.0 C A PASS 0/1 14 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233713736 0.0 G C PASS 0/1 15 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233713766 0.0 G C PASS 0/1 11 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233713783 0.0 T C PASS 1/1 10 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233719291 0.0 T C PASS 1/1 13 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233719624 0.0 G A PASS 0/1 13 None None None None None None None None None GIGYF2|0.544298923|14.01%
View 552217_ngs_ex annotated mendelmd 2 . 233729207 0.0 G A PASS 1/1 10 None None None None None None None None None C2orf82|0.029390832|69.66%
View 552217_ngs_ex annotated mendelmd 2 . 233729266 0.0 T C PASS 0/1 14 None None None None None None None None None C2orf82|0.029390832|69.66%
View 552217_ngs_ex annotated mendelmd 2 . 233729603 0.0 A G PASS 1/1 30 None None None None None None None None None C2orf82|0.029390832|69.66%
View 552217_ngs_ex annotated mendelmd 2 . 181539124 0.0 G A PASS 1/1 33 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 190296896 0.0 T C PASS 1/1 34 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 190319749 0.0 A G PASS 0/1 84 None None None None None None None None None WDR75|0.306550917|27.12%
View 552217_ngs_ex annotated mendelmd 2 . 206160720 0.0 T C PASS 0/1 36 None None None None None None None None None PARD3B|0.988914093|1.13%
View 552217_ngs_ex annotated mendelmd 2 . 206176329 0.0 T C PASS 0/1 101 None None None None None None None None None PARD3B|0.988914093|1.13%
View 552217_ngs_ex annotated mendelmd 2 . 206176717 0.0 G A PASS 0/1 111 None None None None None None None None None PARD3B|0.988914093|1.13%
View 552217_ngs_ex annotated mendelmd 2 . 207123889 0.0 C T PASS 1/1 129 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 207134076 0.0 C T sbF 0/1 42 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208108350 0.0 G A sbF 0/1 93 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208112411 0.0 A G PASS 0/1 125 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208121913 0.0 T C PASS 1/1 29 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208124313 0.0 A G PASS 1/1 145 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208129550 0.0 C T PASS 0/1 85 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208142835 0.0 T G PASS 1/1 81 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208320275 0.0 C T PASS 1/1 43 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208325606 0.0 T C PASS 1/1 88 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208325795 0.0 A T PASS 1/1 68 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208325804 0.0 C G PASS 1/1 77 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208345103 0.0 G A PASS 1/1 54 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208347983 0.0 G A PASS 1/1 31 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208350046 0.0 A G PASS 1/1 34 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 208350862 0.0 A G PASS 1/1 33 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 209978659 0.0 G A PASS 1/1 90 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 210220767 0.0 G A PASS 0/1 19 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 210556728 0.0 A ATCT PASS 0/1 29 None None None None None None None None None MAP2|0.886986794|3.8%
View 552217_ngs_ex annotated mendelmd 2 . 213862497 0.0 A C PASS 0/1 122 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 213930019 0.0 A C PASS 0/1 76 None None None None None None None None None IKZF2|0.914200502|3.13%
View 552217_ngs_ex annotated mendelmd 2 . 215404486 0.0 T G sbF 0/1 61 None None None None None None None None None VWC2L|0.888840699|3.72%
View 552217_ngs_ex annotated mendelmd 2 . 215404531 0.0 T G sbF 0/1 36 None None None None None None None None None VWC2L|0.888840699|3.72%
View 552217_ngs_ex annotated mendelmd 2 . 215408177 0.0 T G sbF 1/1 67 None None None None None None None None None VWC2L|0.888840699|3.72%
View 552217_ngs_ex annotated mendelmd 2 . 215435759 0.0 T A PASS 0/1 63 None None None None None None None None None VWC2L|0.888840699|3.72%
View 552217_ngs_ex annotated mendelmd 2 . 216039296 0.0 A T PASS 0/1 49 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 216148178 0.0 A G PASS 1/1 92 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 216451064 0.0 T C PASS 0/1 32 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 216676859 0.0 T C PASS 1/1 72 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 218164616 0.0 C T sbF 0/1 166 None None None None None None None None None DIRC3|0.003364433|87.98%
View 552217_ngs_ex annotated mendelmd 2 . 218384290 0.0 C T sbF 0/1 103 None None None None None None None None None DIRC3|0.003364433|87.98%
View 552217_ngs_ex annotated mendelmd 2 . 218828067 0.0 A AG PASS 0/1 46 None None None None None None None None None TNS1|0.891163744|3.64%
View 552217_ngs_ex annotated mendelmd 2 . 219055315 0.0 A G sbF 0/1 93 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 219055690 0.0 A G PASS 0/1 122 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 219213930 0.0 C T PASS 0/1 108 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 219218557 0.0 C T PASS 1/1 50 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 219556063 0.0 G A sbF 0/1 106 None None None None None None None None None STK36|0.159611866|41.62%
View 552217_ngs_ex annotated mendelmd 2 . 219556234 0.0 A G PASS 1/1 91 None None None None None None None None None STK36|0.159611866|41.62%
View 552217_ngs_ex annotated mendelmd 2 . 219556695 0.0 C G PASS 0/1 41 None None None None None None None None None STK36|0.159611866|41.62%
View 552217_ngs_ex annotated mendelmd 2 . 222202200 0.0 C G sbR 0/1 15 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 222221236 0.0 G T sbF 0/1 27 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 230212397 0.0 G A sbF 0/1 64 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 230212439 0.0 G A sbF 0/1 61 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 230213010 0.0 A G PASS 1/1 22 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 230467181 0.0 G A PASS 0/1 67 None None None None None None None None None DNER|0.121743311|47.2%
View 552217_ngs_ex annotated mendelmd 2 . 230498537 0.0 TA T PASS 0/1 29 None None None None None None None None None DNER|0.121743311|47.2%
View 552217_ngs_ex annotated mendelmd 2 . 230540882 0.0 G A sbF 0/1 106 None None None None None None None None None DNER|0.121743311|47.2%
View 552217_ngs_ex annotated mendelmd 2 . 230541965 0.0 T C PASS 0/1 64 None None None None None None None None None DNER|0.121743311|47.2%
View 552217_ngs_ex annotated mendelmd 2 . 230542948 0.0 C T PASS 0/1 42 None None None None None None None None None DNER|0.121743311|47.2%
View 552217_ngs_ex annotated mendelmd 2 . 232520686 0.0 G A PASS 1/1 22 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 232521873 0.0 T C PASS 1/1 106 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 232524103 0.0 T G PASS 1/1 78 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 232525208 0.0 A G sbF 1/1 39 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 237534583 0.0 A G PASS 0/1 51 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 237540464 0.0 A G PASS 0/1 119 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 239082174 0.0 G A PASS 0/1 75 None None None None None None None None None ILKAP|0.155452908|42.23%
View 552217_ngs_ex annotated mendelmd 2 . 239108040 0.0 T C PASS 1/1 128 None None None None None None None None None ILKAP|0.155452908|42.23%
View 552217_ngs_ex annotated mendelmd 2 . 239144721 0.0 A G PASS 1/1 150 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 240598657 0.0 A G PASS 1/1 81 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 240721033 0.0 G A PASS 0/1 86 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 240741385 0.0 G A PASS 0/1 45 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 240757423 0.0 AT... A PASS 0/1 52 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 85667185 0.0 G T PASS 0/1 48 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 85668215 0.0 T G PASS 0/1 86 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 2 . 86166647 0.0 TA T sbF 0/1 23 None None None None None None None None None None