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GROUPS:

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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 . 99970235 787.33 TT... T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102557347 7637.89 TT... GT... PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 102557349 12294.66 TT... GT... PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 11061775 66.2 TTTTG T PASS 0/1 3 None None None None None None None None None None
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 . 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 . 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 . 102557351 29586.77 TTG GT... PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 64833708 368.22 TTG T PASS 0/1 22 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 . 100722508 18623.23 TTCAC T PASS 0/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 128759127 143.5 TTA T PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 152235723 8616.67 TTA T PASS 0/1 115 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 27152087 504.04 TG... T PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140113449 20982.88 TG... T PASS 0/1 31 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 . 5926178 5859.38 TGG T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 152025937 2329.96 TGCG T PASS 1/1 49 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 . 149179937 9121.92 TG... T PASS 0/1 10 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 . 102934552 141203.74 TGAA T PASS 1/1 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 142172427 1304.08 TG T PASS 0/1 49 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 138671988 2052.85 TG T PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 107576623 61543.04 TG T PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 36622076 29.47 TG T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 99050894 981.54 TG T PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 76283218 2800.35 TG T PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 98355009 10949.0 TG T PASS 1/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149878658 35443.2 TG T PASS 1/1 40 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 14736196 18831.33 TG T PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 95394877 662.25 TG T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 123596168 111.32 TG T PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 64833704 382.74 TG T PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 37448744 51.97 TG T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 98906084 25350.76 TG T PASS 0/1 7 None None None None None None None None None None

MUC17

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 . 100686887 107122.34 TG T PASS 0/1 37 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 . 73697727 28292.11 TG T PASS 1/1 18 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 . 5132582 921.49 TC... T PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 8113097 850.66 TCTC T PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87191157 6571.6 TCTA T PASS 0/1 22 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5297224 15760.92 TC... T PASS 1/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 75592556 299.63 TC... T PASS 0/1 22 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 . 100154616 56.83 TCA T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158263158 308.35 TCA T PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 2250684 10050.7 TC T PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1493613 1262.19 TC T PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 131506795 54534.07 TC T PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 36637952 36.63 TC T PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 149821443 1086.17 TC T PASS 1/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 42931909 30392.46 TC T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5423335 392.66 TC T PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 141729424 62777.53 TC T PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 133022265 40.84 TC T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 29722234 625.06 TATC T PASS 0/1 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 . 144186264 57.15 TAG T PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87166631 217542.08 TAG T PASS 0/1 54 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 . 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 . 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 . 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 . 37864463 11448.92 TAAC T PASS 1/1 6 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 . 148807814 778.85 TA... TA... PASS 1/1 1 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 . 103498280 11614.36 TAAAA T PASS 0/1 9 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 . 30463706 366.82 TAA T PASS 1/1 7 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 . 27828864 7035.97 TAA TA... PASS 0/1 2 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 . 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 . 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 . 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 . 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 . 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 . 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 . 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 . 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 . 77894146 22.64 TA T PASS 0/1 11 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 . 87897235 58879.2 TA TA... PASS 0/1 29 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 . 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 . 75188005 82.57 TA T PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 123609199 483.42 TA T PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 23754520 100866.36 TA T PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 87411847 17.63 TA T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 127596603 1212.79 TA AA... PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 5199688 9891.38 TA T PASS 0/1 10 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 . 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 . 4986539 583.98 TA T PASS 1/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 140518447 974.03 TA T PASS 0/1 39 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 13989082 11079.61 TA T PASS 0/1 68 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 94553296 20.11 TA T PASS 0/1 9 None None None None None None None None None None