SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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EXCLUDE SAVED GENE 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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

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 . 4983822 15519.15 TT... TT... PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 154669538 3465.04 TT... T,... PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 65387877 18010.51 TTGTG T,TTG PASS 0/1 108 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 130324053 2252.74 T TTTG PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150802076 11473.1 T TT... PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 141738137 1532.37 T TT... PASS 0/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 67239694 883.51 T TT... PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 98953031 38967.7 TT... TT... PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 761997 4700.52 T TT... PASS 0/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5132468 395.14 T TTG PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 32580713 15338.22 T TTG PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142034194 9075.05 T TTG PASS 0/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 130508721 21655.55 T TT... PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 143320553 3169.62 TT... TT... PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 151122568 945.52 TC... T,... PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 82952172 406710.43 T TTCA PASS 1/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102097547 77233.1 T TTC PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 55983979 16058.59 T TT... PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 111834693 818.91 TAA T,... PASS 0/1 18 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

ZMIZ2

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 . 44801186 7728.62 TAA T,... PASS 0/2 21 FRAME_SHIFT HIGH None None None None None None None
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 . 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 . 135616773 1462.11 TAA T,... PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 8156929 5816.66 TA... T,... PASS 0/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 152194273 264.53 TA T,... PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 73459389 1564.76 TA T,TAA PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1127481 350.56 TA T,TAA PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44467817 5922.11 TA T,TAA PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 16278234 392.58 TA T,TAA PASS 0/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138732851 9463.82 TA T,TAA PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157382535 32919.73 T TTAA PASS 0/1 109 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 141839012 151.13 TAA T,TA PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 50104463 208.89 T TTA PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99057601 39140.83 T TG... PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 139137758 38171.49 T TGTTC PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149878840 9907.05 T TG... PASS 1/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 55497554 5631.41 TG... TG... PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 151086835 844.53 T TGGGG PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 45814767 424.98 T TGGC PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 103989356 1959.08 T TG... PASS 0/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142332335 711.85 TGAGA TGA,T PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 64929131 78551.41 T TG... PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 41329068 831.8 TG... TG... PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 103197296 3627.4 T TGAAA PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83977037 83167.84 T TGA PASS 1/1 24 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 65979372 89442.9 T TGA PASS 0/1 115 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 151352732 18265.43 C T,G PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 143833642 8104.51 C T,G VQSRTrancheSNP99.90to100.00 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 23317702 54257.49 C T,G PASS 0/1 45 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5132414 224.41 T TG PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 64706264 72928.68 T TG PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138671985 1974.0 T TG PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99057608 18497.66 T TG PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 2932343 3434.28 T TG PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 44219955 10729.33 T TG PASS 1/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87174678 9520.4 T TG PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 147108136 37542.9 T TG PASS 0/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 874961 763.55 T TG PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5308345 1781.87 T TG PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 90238132 1750.06 T TCTG PASS 1/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1489311 10347.38 T TC... PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150574089 513.61 T TC... PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1503840 761.66 T TC... PASS 0/1 58 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 8113112 1247.75 T TC... PASS 1/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 130135793 4965.26 T TC... PASS 1/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 120810624 20863.37 TCACA TC... PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 141838142 36786.88 T TCAA PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101000778 63.13 G T,C PASS 0/1 6 None None None -0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 141935734 9434.24 T TC PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158934107 70978.71 T TC PASS 1/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 34878351 823.38 T TC PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 150975074 3689.89 T TC PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 98956116 50320.84 T TC PASS 0/1 200 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 20763484 1374.59 T TC PASS 1/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157254397 4262.48 T TATTA PASS 1/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 107924097 58039.34 GAT TA... PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 12237123 4335.54 T TATG PASS 1/1 70 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 . 103081710 1964.8 T TA... PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 27828864 7035.97 TAA TA... PASS 0/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 15365380 2249.7 TAA TA... PASS 1/1 1 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 . 138911089 4411.61 T TA... PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 100614763 580.02 T TA... PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149909829 21754.01 T TA... PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 105482444 30094.3 TAA TA,T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 50711175 2033.47 TAA TA,T PASS 1/1 3 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 . 151971140 39810.52 A T,... PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 36284612 506.67 T TAGA PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83394271 77203.63 TACAC TA... PASS 1/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 63572851 737.17 T TA... PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 101160959 864.82 T TA... PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128858576 11061.73 TA... TA... PASS 0/1 11 MOTIF[MA0139.1:CTCF] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 14757555 7705.77 TAC TA... PASS 0/1 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1849047 992.0 TA... TA... PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 4905895 1595.23 T TAC PASS 0/1 112 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 64929134 62522.89 T TA... PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 83156403 3260.7 TAAA TA... PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87897235 58879.2 TA TA... PASS 0/1 29 None None None None None None None None None None