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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
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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 rs111352767
dbSNP
31439 1121.25 T A PASS 1/1 43 None None None 0.29872 0.29870 None None None None None None None

FAM20C

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 rs538469200
dbSNP
193399 623.85 C A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.01 0.53 3.65 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 rs10277457
dbSNP
195501 1328.59 A G PASS 0/1 26 None None None 0.06490 0.06490 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 246436 849.33 A G PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 246536 186.47 C CG... PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 248203 389.19 G C PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 248208 386.5 G C PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 291253 1912.32 C T PASS 1/1 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 497345 738.54 G A PASS 0/1 56 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 498322 3662.31 T C,TC PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 498640 12854.82 G C PASS 0/1 52 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 498647 11707.69 T C PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 498711 4005.39 A T PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 500881 17645.58 T C PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 501104 148957.65 G A PASS 0/1 149 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 511100 7148.32 G C PASS 0/1 36 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 512309 25896.53 T C PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 512409 10771.86 A G PASS 0/1 95 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 518698 1471.79 G C PASS 1/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 549028 901.9 A G PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 549246 1058.33 AG A,AGG PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 551488 4684.82 C G PASS 1/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 579218 59619.57 T C PASS 1/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 579232 67796.57 G A PASS 1/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 579301 52440.57 A G PASS 1/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 584584 27461.8 T G PASS 0/1 97 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 584764 4625.65 C T PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 711727 633.96 AC A PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 726531 1618.96 A C PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 726577 384.33 G GA... PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 726583 441.5 A G PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 732537 1844.33 G A PASS 0/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 741050 44247.39 T C PASS 1/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 741343 7370.22 T G PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 754455 6651.28 C T PASS 0/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 754834 36785.64 A G PASS 0/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 754939 5658.73 C T PASS 0/1 13 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 . 773981 71557.04 T C PASS 0/1 125 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 774013 91874.72 G A PASS 0/1 185 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 774230 28216.97 C G PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 774975 69876.72 G A PASS 0/1 134 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 775151 49956.69 G A PASS 0/1 114 None None None 1.33 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 779840 9162.58 T C PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 782161 2150.22 C T PASS 0/1 111 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 782170 1551.7 C G PASS 0/1 101 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 782254 563.07 G A PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 782561 266.41 G A PASS 0/1 59 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 782864 1261.79 C T PASS 0/1 77 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 782886 2328.45 A G PASS 0/1 119 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 785477 234473.76 T C PASS 0/1 57 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 785792 12992.59 A G PASS 0/1 157 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 785857 1187.89 G A PASS 0/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 786465 825.56 G A PASS 0/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 789706 12.18 T A PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 816344 38.47 C T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 816357 41.22 T G PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 816683 209.45 C T PASS 0/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 817715 471.24 A G PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 832288 2309.01 G T PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 832463 3440.05 T C PASS 0/1 109 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 842031 47082.76 C T PASS 0/1 142 None None None 3.43 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 843192 62782.52 GT G PASS 0/1 151 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 843258 143607.76 C G PASS 0/1 92 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 848198 4993.14 G GA PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 851341 3611.91 T C PASS 0/1 33 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 851547 16000.12 C CGAT PASS 1/1 70 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 853660 22466.71 G C PASS 0/1 169 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 853770 2451.1 G A PASS 0/1 90 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 854785 3421.84 T C PASS 0/1 47 None None None None None None None None None None

SUN1

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 . 856291 11586.84 A G PASS 0/1 16 SYNONYMOUS_CODING LOW 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 . 856505 4774.84 C T PASS 0/1 21 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 857855 118361.18 A G PASS 0/1 82 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 860073 41607.57 A C PASS 1/1 38 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 860398 15063.84 G A PASS 0/1 259 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 861198 22.28 C G PASS 0/1 4 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 866149 27663.06 A G PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 869713 12339.1 T C PASS 1/1 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 873118 145856.08 C T PASS 1/1 54 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 . 876897 147.73 C G PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 886080 19880.8 G A PASS 0/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 886312 8725.32 A G PASS 1/1 3 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 886440 19639.0 G A PASS 1/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs557182761
dbSNP
887546 262.63 G A PASS 0/1 23 MOTIF[MA0154.1:EBF] LOW 0.00040 0.00040 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 890971 11159.39 G A PASS 0/1 127 None None None None None None None None None None

SUN1

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 rs765886591
dbSNP
891052 10935.24 C T PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 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 . 892323 17106.28 G A PASS 0/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 896576 719.83 G A PASS 0/1 16 None None None None None None None None None None

SUN1

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 rs756527187
dbSNP
899993 20739.42 G A PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.19 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 . 900544 28097.76 C T PASS 0/1 32 None None None 0.74 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 900621 15732.75 G GG... PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 900630 20375.66 T C PASS 0/1 47 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 900661 11960.87 C G,... PASS 0/1 41 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 900704 273.16 C T PASS 0/1 19 None None None None None None None None None None

SUN1

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 . 901087 1018.78 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 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 . 904062 3258.37 G A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 904074 19495.75 T C PASS 0/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 904361 33648.99 C T PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 905046 49930.67 C T PASS 1/1 36 None None None None None None None None None None