SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

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GROUPS:

SAVED GENE LIST:

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INDIVIDUALS:

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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
OPEN RESULT IN A NEW WINDOW
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Genes at Omim

AP1S1, DNAH11, FAM20C, FLNC, GARS, HOXA13, LAMB1, MAD1L1, NME8, NPC1L1, PEX1, PLOD3, PMS2, PTPN12, RELN, SFRP4, TAF6, TFR2, WDR60,
AP1S1 MEDNIK syndrome, 609313 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
FAM20C Raine syndrome, 259775 (3)
FLNC Myopathy, myofibrillar, 5, 609524 (3)
Myopathy, distal, 4, 614065 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Cardiomyopathy, familial hypertrophic, 26 (3)
GARS Neuropathy, distal hereditary motor, type VA, 600794 (3)
Charcot-Marie-Tooth disease, type 2D, 601472 (3)
HOXA13 Hand-foot-uterus syndrome, 140000 (3)
Guttmacher syndrome, 176305 (3)
LAMB1 Lissencephaly 5, 615191 (3)
MAD1L1 Prostate cancer, somatic, 176807 (3)
Lymphoma, somatic (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NPC1L1 [Ezetimibe, nonresponse to] (3)
PEX1 Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Heimler syndrome 1, 234580 (3)
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 (3)
PMS2 Mismatch repair cancer syndrome, 276300 (3)
Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
PTPN12 Colon cancer, somatic, 114500 (3)
RELN {Epilepsy, familial temporal lobe, 7}, 616436 (3)
Lissencephaly 2 (Norman-Roberts type), 257320 (3)
SFRP4 Pyle disease, 265900 (3)
TAF6 Alazami-Yuan syndrome, 617126 (3)
TFR2 Hemochromatosis, type 3, 604250 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)

Genes at Clinical Genomics Database

AP1S1, DNAH11, FAM20C, FLNC, GARS, HOXA13, LAMB1, NME8, NPC1L1, PEX1, PLOD3, PMS2, RELN, SERPINE1, TFR2, WDR60,
AP1S1 MEDNIK syndrome
DNAH11 Ciliary dyskinesia, primary, 7
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC Myopathy, myofibrillar, 5
Myopathy, distal, 4
GARS Neuropathy, distal hereditary motor, type V
Charcot-Marie-Tooth disease, type 2D
HOXA13 Hand-foot-uterus syndrome
Guttmacher syndrome
Hand-foot-genital syndrome
LAMB1 Lissencephaly 5
NME8 Ciliary dyskinesia, primary, 6
NPC1L1 Ezetimibe, nonresponse to
PEX1 Heimler syndrome 1
PLOD3 Bone fragility with contractures, arterial rupture, and deafness
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
SERPINE1 Plasminogen activator inhibitor-1 deficiency
TFR2 Hemochromatosis, type 3
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 5928
Number of Genes: 73

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 23 recalibrated filtered postcgp gqfiltered 7 . 48644589 8933.75 CTTTT CT... PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 54201601 370.57 G C,* PASS 2/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 27196939 2052.41 T G,* PASS 2/2 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 107935354 77559.21 T G,* VQSRTrancheSNP99.90to100.00 2/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102517787 328.44 A G,* PASS 2/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100826965 3184.31 G C,* PASS 2/2 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 55497556 5406.6 G C,* VQSRTrancheSNP99.90to100.00 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149892407 79736.48 A C,... PASS 2/2 57 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142094963 15841.15 ATTT A,AT PASS 2/2 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 38503502 600.53 GT G,* PASS 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 38503501 91.82 GGT G,* PASS 2/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100787956 51444.94 G C,* PASS 2/2 84 None None None -0.46 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 74602591 9522.58 GAA G,GA PASS 1/2 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 103611536 10764.47 AT AT... PASS 1/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83392483 30276.66 TA... TA... PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 105203969 676.86 CAA C,CA PASS 1/2 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 7673310 1249.26 TA... TA... PASS 1/2 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 13910228 247.51 CT... C,CTT PASS 1/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 77355435 32868.58 CAA C,... PASS 1/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135276926 685.17 ATT A,AT PASS 1/2 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 8113214 238.87 TAA T,... PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 90304643 21873.91 GT... GT... PASS 1/2 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44800398 185.57 CTT C,CT PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 95495738 49194.65 CTTT CT... PASS 1/2 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149239671 3121.5 A AC... PASS 1/2 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 38503503 21550.52 T G,* PASS 1/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 151351916 1671.67 A AA... PASS 1/2 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142912837 25846.92 GA... GA... PASS 1/2 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 21514531 163.44 T TA... PASS 1/2 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 108182104 4106.31 ATT A,AT PASS 1/2 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83469398 26079.45 CTTTT C,... PASS 1/2 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 2945727 93016.46 GACAC G,GAC PASS 1/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 30633896 15909.54 TAA T,... PASS 1/2 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 54201581 392.45 A G,* PASS 1/2 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149815089 2461.45 C T PASS 1/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149814897 8114.21 A G PASS 1/1 83 None None None 1.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 103240713 34063.35 C T PASS 1/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149814421 2281.29 G A PASS 1/1 77 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 103233919 715.19 C T PASS 1/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149812729 16850.65 G T PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149812719 15590.56 C T PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 66154611 39.02 C CTTT PASS 1/1 1 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 66152608 2972.63 T C PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149810876 13428.28 C T PASS 1/1 134 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149810773 3290.65 A C PASS 1/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149809383 1483.71 C T PASS 1/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135737042 8113.01 A G PASS 1/1 78 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135736800 868.99 T C PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135733878 16439.65 A T PASS 1/1 128 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135728878 2310.83 C T PASS 1/1 57 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135727525 2251.33 T C PASS 1/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135721428 35790.65 A G PASS 1/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135721156 2299.09 A G PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135708128 155879.06 T C PASS 1/1 107 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135702908 89821.13 G A PASS 1/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135702747 85449.06 A G PASS 1/1 42 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs538155856
dbSNP
135702725 70846.13 A G PASS 1/1 35 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135694106 42864.86 G A PASS 1/1 44 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135691293 5828.31 G A PASS 1/1 69 None None None 2.34 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 65755710 178641.74 G A PASS 1/1 37 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135691177 13398.71 A C PASS 1/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135691173 9733.16 C A PASS 1/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135662491 290.58 G GC PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135660571 26135.59 A G PASS 1/1 83 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 129502934 1078.43 G A PASS 1/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 45073303 10677.36 T C PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 129502853 3914.02 C G PASS 1/1 131 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 129485984 32856.08 T C PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135643362 34966.59 C T PASS 1/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135626419 67186.4 G A PASS 1/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135619525 197396.38 G C PASS 1/1 43 None None None 0.40 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149809123 14569.8 G GC PASS 1/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135601040 42670.46 T C PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 129454354 64261.2 T C PASS 1/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135594567 100003.27 A C PASS 1/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135591737 31094.2 G A PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135587522 10193.85 T C PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44885028 14984.28 A C PASS 1/1 249 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 129409666 25756.76 A G PASS 1/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44841244 3708.05 T A PASS 1/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 129405350 162323.2 A G PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44829938 15600.71 C T PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135577785 48138.25 T C PASS 1/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135558162 5783.3 C T PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135444983 79546.93 C CT PASS 1/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44768817 664.7 A G PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149807983 295.02 G A PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149807119 966.92 C T PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44708994 157.15 TA TAA,T PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135363745 32271.06 C T PASS 1/1 118 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135363281 43167.12 G C PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135362951 535978.89 T C PASS 1/1 12 None None None -0.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135361800 3492.62 C T PASS 1/1 98 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149807028 1469.67 C T PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149806828 4125.69 GGATA G PASS 1/1 68 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149806755 3962.07 T G PASS 1/1 78 None None None 2.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135276943 1102.0 A G PASS 1/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135258576 3331.85 C T PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135258364 4633.71 C G PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 135258335 2806.87 C G PASS 1/1 11 None None None None None None None None None None