+ 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
RESET FILTER | Save Config | Save Analysis

+ Genes 4

Genes:
CHRD, FYCO1, LARS2, TRPC1,

+ Genes associated with diseases 2

Genes at Omim

FYCO1, LARS2,
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
LARS2 Perrault syndrome 4, 615300 (3)
?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)

Genes at Clinical Genomics Database

FYCO1, LARS2,
FYCO1 Cataract, autosomal recessive congenital 2
LARS2 Perrault syndrome 4

Genes at HGMD

Summary

Number of Variants: 390
Number of Genes: 4

Export to: CSV
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 3 . 50340659 0.0 G A PASS 0/1 70 None None None None None None None None None HYAL1|0.041685422|65.22%
View 552217_ngs_ex annotated mendelmd 3 . 58105076 0.0 G A sbF 0/1 86 None None None None None None None None None FLNB|0.587014407|12.25%
View 552217_ngs_ex annotated mendelmd 3 . 58131937 0.0 G A sbF 0/1 34 None None None None None None None None None FLNB|0.587014407|12.25%
View 552217_ngs_ex annotated mendelmd 3 . 58168450 0.0 G A PASS 0/1 36 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 58168601 0.0 G A PASS 0/1 31 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 108470146 0.0 G A PASS 1/1 66 None None None None None None None None None RETNLB|0.001866785|91.35%
View 552217_ngs_ex annotated mendelmd 3 . 112466178 0.0 G A PASS 1/1 72 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 129433246 0.0 G A PASS 0/1 14 None None None None None None None None None TMCC1|0.404814621|20.48%
View 552217_ngs_ex annotated mendelmd 3 . 130405647 0.0 G A PASS 1/1 34 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 130455490 0.0 G A PASS 1/1 30 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 133448519 0.0 G A PASS 1/1 36 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 133611099 0.0 G A PASS 1/1 39 None None None None None None None None None RAB6B|0.236649929|32.75%
View 552217_ngs_ex annotated mendelmd 3 . 133637946 0.0 G A PASS 0/1 65 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 133755484 0.0 G A sbF 0/1 29 None None None None None None None None None SLCO2A1|0.061541406|59.42%
View 552217_ngs_ex annotated mendelmd 3 . 151827813 0.0 G A PASS 1/1 20 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 158649111 0.0 G A PASS 0/1 71 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 165055269 0.0 G A PASS 1/1 51 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 167449398 0.0 T A PASS 0/1 46 None None None None None None None None None PDCD10|0.69791037|8.55%
View 552217_ngs_ex annotated mendelmd 3 . 186722454 0.0 G A PASS 0/1 56 None None None None None None None None None ST6GAL1|0.059355295|60.07%
View 552217_ngs_ex annotated mendelmd 3 . 10345375 0.0 C A sbF 0/1 42 None None None None None None None None None SEC13|0.394056211|21.13%
View 552217_ngs_ex annotated mendelmd 3 . 33132676 0.0 G A PASS 1/1 45 None None None None None None None None None GLB1|0.136925779|44.88%,TMPPE|0.064511394|58.72%
View 552217_ngs_ex annotated mendelmd 3 . 46408579 0.0 T A PASS 1/1 78 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46443473 0.0 G A sbF 0/1 63 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 46448875 0.0 G A sbF 0/1 86 None None None None None None None None None CCRL2|0.000417703|98.85%
View 552217_ngs_ex annotated mendelmd 3 . 46448983 0.0 G A sbF 0/1 142 None None None None None None None None None CCRL2|0.000417703|98.85%
View 552217_ngs_ex annotated mendelmd 3 . 46682061 0.0 G A sbF 1/1 87 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 49688637 0.0 G A PASS 0/1 96 None None None None None None None None None BSN|0.190182415|37.78%
View 552217_ngs_ex annotated mendelmd 3 . 4814550 0.0 G A PASS 1/1 20 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 8768017 0.0 G A PASS 1/1 27 None None None None None None None None None SSUH2|0.023073982|72.66%
View 552217_ngs_ex annotated mendelmd 3 . 33097057 0.0 G A PASS 1/1 27 None None None None None None None None None GLB1|0.136925779|44.88%
View 552217_ngs_ex annotated mendelmd 3 . 37533460 0.0 G A PASS 1/1 51 None None None None None None None None None ITGA9|0.291839002|28.24%
View 552217_ngs_ex annotated mendelmd 3 . 38309028 0.0 G A PASS 1/1 122 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 rs1049201485
dbSNP Clinvar 		38313734 0.0 G A sbF 0/1 138 None None None None None None None None None SLC22A13|0.007866901|82.71%
View 552217_ngs_ex annotated mendelmd 3 . 38726756 0.0 G A PASS 0/1 66 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 38752498 0.0 G A PASS 0/1 71 None None None None None None None None None SCN10A|0.216199938|34.89%
View 552217_ngs_ex annotated mendelmd 3 . 39265671 0.0 G A PASS 0/1 55 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 49896626 0.0 G A PASS 0/1 107 None None None None None None None None None CAMKV|0.274599401|29.55%
View 552217_ngs_ex annotated mendelmd 3 . 43549835 0.0 G A PASS 1/1 18 None None None None None None None None None ANO10|0.098739999|51.41%
View 552217_ngs_ex annotated mendelmd 3 . 45491732 0.0 G A PASS 1/1 92 None None None None None None None None None LARS2|0.092014629|52.81%
View 552217_ngs_ex annotated mendelmd 3 . 45772501 0.0 G A sbF 0/1 61 None None None None None None None None None SACM1L|0.548332885|13.81%
View 552217_ngs_ex annotated mendelmd 3 . 45955269 0.0 G A sbF 1/1 63 None None None None None None None None None LZTFL1|0.104893226|50.25%
View 552217_ngs_ex annotated mendelmd 3 . 45966595 0.0 G A sbF 0/1 115 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 45967298 0.0 G A PASS 0/1 81 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 45967995 0.0 G A PASS 0/1 133 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 46357717 0.0 G A PASS 0/1 70 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 47083895 0.0 G A PASS 1/1 36 None None None None None None None None None SETD2|0.695117381|8.64%
View 552217_ngs_ex annotated mendelmd 3 . 49132349 0.0 G A PASS 0/1 89 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 49357401 0.0 G A sbF 0/1 106 None None None None None None None None None USP4|0.490411724|16.29%
View 552217_ngs_ex annotated mendelmd 3 . 49416844 0.0 G A sbF 0/1 41 None None None None None None None None None RHOA|0.809851824|5.57%
View 552217_ngs_ex annotated mendelmd 3 . 49420319 0.0 G A PASS 0/1 73 None None None None None None None None None RHOA|0.809851824|5.57%
View 552217_ngs_ex annotated mendelmd 3 . 49684099 0.0 G A PASS 0/1 34 None None None None None None None None None BSN|0.190182415|37.78%
View 552217_ngs_ex annotated mendelmd 3 . 49686351 0.0 C A PASS 0/1 111 None None None None None None None None None BSN|0.190182415|37.78%
View 552217_ngs_ex annotated mendelmd 3 . 53666373 0.0 G A PASS 0/1 101 None None None None None None None None None CACNA1D|0.678487804|9.14%
View 552217_ngs_ex annotated mendelmd 3 . 54764231 0.0 G A PASS 0/1 40 None None None None None None None None None CACNA2D3|0.956528589|2.05%
View 552217_ngs_ex annotated mendelmd 3 . 64147506 0.0 G A PASS 0/1 143 None None None None None None None None None PRICKLE2|0.417564665|19.72%
View 552217_ngs_ex annotated mendelmd 3 . 101230998 0.0 G A sbF 0/1 47 None None None None None None None None None SENP7|0.133844554|45.32%
View 552217_ngs_ex annotated mendelmd 3 . 101244310 0.0 G A PASS 0/1 96 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 119414336 0.0 G A PASS 1/1 130 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 120670469 0.0 T A PASS 1/1 52 None None None None None None None None None STXBP5L|0.408453725|20.27%
View 552217_ngs_ex annotated mendelmd 3 . 121642940 0.0 G A sbF 0/1 43 None None None None None None None None None SLC15A2|0.130031628|45.86%
View 552217_ngs_ex annotated mendelmd 3 . 121807357 0.0 G A sbF 0/1 19 None None None None None None None None None CD86|0.042806213|64.85%
View 552217_ngs_ex annotated mendelmd 3 . 122106350 0.0 G A PASS 1/1 106 None None None None None None None None None FAM162A|0.061010854|59.59%
View 552217_ngs_ex annotated mendelmd 3 . 123448402 0.0 G A PASS 1/1 28 None None None None None None None None None MYLK|0.503223171|15.7%
View 552217_ngs_ex annotated mendelmd 3 . 123692742 0.0 G A sbF 0/1 26 None None None None None None None None None ROPN1|0.056890135|60.71%
View 552217_ngs_ex annotated mendelmd 3 . 123722120 0.0 G A sbF 1/1 20 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 123733991 0.0 G A PASS 0/1 104 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 123739046 0.0 G A PASS 1/1 34 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 123915199 0.0 G A PASS 1/1 89 None None None None None None None None None KALRN|0.624262379|10.99%
View 552217_ngs_ex annotated mendelmd 3 . 124395221 0.0 G A sbF 0/1 105 None None None None None None None None None KALRN|0.624262379|10.99%
View 552217_ngs_ex annotated mendelmd 3 . 124745295 0.0 C A PASS 0/1 54 None None None None None None None None None HEG1|0.04030264|65.66%
View 552217_ngs_ex annotated mendelmd 3 . 124745368 0.0 AT A PASS 0/1 55 None None None None None None None None None HEG1|0.04030264|65.66%
View 552217_ngs_ex annotated mendelmd 3 . 124748362 0.0 G A PASS 0/1 49 None None None None None None None None None HEG1|0.04030264|65.66%
View 552217_ngs_ex annotated mendelmd 3 . 124748400 0.0 C A PASS 0/1 27 None None None None None None None None None HEG1|0.04030264|65.66%
View 552217_ngs_ex annotated mendelmd 3 . 140459643 0.0 G A PASS 1/1 86 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 149155200 0.0 G A PASS 0/1 38 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 149198448 0.0 T A PASS 1/1 80 None None None None None None None None None TM4SF4|0.037131937|66.74%
View 552217_ngs_ex annotated mendelmd 3 . 150927564 0.0 G A PASS 1/1 76 None None None None None None None None None MED12L|0.282976323|28.89%
View 552217_ngs_ex annotated mendelmd 3 . 150927621 0.0 G A PASS 1/1 62 None None None None None None None None None MED12L|0.282976323|28.89%
View 552217_ngs_ex annotated mendelmd 3 . 170998041 0.0 G A PASS 0/1 70 None None None None None None None None None TNIK|0.717729556|8.03%
View 552217_ngs_ex annotated mendelmd 3 . 171014511 0.0 G A PASS 0/1 33 None None None None None None None None None TNIK|0.717729556|8.03%
View 552217_ngs_ex annotated mendelmd 3 . 172448243 0.0 G A PASS 0/1 71 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 183072461 0.0 G A PASS 1/1 38 None None None None None None None None None MCF2L2|0.04761529|63.45%
View 552217_ngs_ex annotated mendelmd 3 . 184056974 0.0 C A PASS 1/1 23 None None None None None None None None None EIF2B5|0.736636231|7.47%,FAM131A|0.227000309|33.67%
View 552217_ngs_ex annotated mendelmd 3 . 184100628 0.0 G A PASS 0/1 81 None None None None None None None None None EIF2B5|0.736636231|7.47%,CHRD|0.912759797|3.17%
View 552217_ngs_ex annotated mendelmd 3 . 186717581 0.0 G A sbF 0/1 25 None None None None None None None None None ST6GAL1|0.059355295|60.07%
View 552217_ngs_ex annotated mendelmd 3 . 190388282 0.0 AG A PASS 0/1 140 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 193617202 0.0 G A PASS 1/1 37 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 195750920 0.0 G A sbF 1/1 82 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 195762138 0.0 C A PASS 1/1 75 None None None None None None None None None TFRC|0.701274957|8.47%
View 552217_ngs_ex annotated mendelmd 3 rs544448362
dbSNP Clinvar 		197015524 0.0 G A PASS 1/1 35 None None None 0.00020 0.00020 None None None None None None DLG1|0.817144992|5.37%
View 552217_ngs_ex annotated mendelmd 3 . 149167992 0.0 A AT PASS 0/1 20 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 4675127 0.0 A C PASS 0/1 35 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 45966333 0.0 T C sbF 0/1 17 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 197019758 0.0 T C PASS 1/1 67 None None None None None None None None None DLG1|0.817144992|5.37%
View 552217_ngs_ex annotated mendelmd 3 . 130415648 0.0 T C sbF 1/1 30 None None None None None None None None None PIK3R4|0.283818762|28.82%
View 552217_ngs_ex annotated mendelmd 3 . 4725578 0.0 T C PASS 0/1 41 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 58427738 0.0 G C sbF 1/1 45 None None None None None None None None None None
View 552217_ngs_ex annotated mendelmd 3 . 45968515 0.0 T C PASS 0/1 151 None None None None None None None None None FYCO1|0.053934949|61.49%
View 552217_ngs_ex annotated mendelmd 3 . 4775373 0.0 T C PASS 1/1 22 None None None None None None None None None ITPR1|0.673215803|9.28%
View 552217_ngs_ex annotated mendelmd 3 . 186619924 0.0 T C PASS 0/1 60 None None None None None None None None None None