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INDIVIDUALS:

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GROUPS:

SAVED GENE LIST:

GENE LIST:
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 rs780134331
dbSNP
128493930 276499.94 G A PASS 1/1 35 None None None -0.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs776724864
dbSNP
31642151 4496.84 C T PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs770938740
dbSNP
71388032 10044.06 A G PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs770184984
dbSNP
21884396 102625.68 A G PASS 1/1 131 None None None 2.60 None None rs6461613 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 7 rs769178913
dbSNP
152676167 6392.0 C G PASS 0/1 70 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs766307808
dbSNP
12644715 16437.84 C T PASS 1/1 20 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 rs760885880
dbSNP
92145119 143.55 C T PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs758094049
dbSNP
100153394 139984.76 A G PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs756741992
dbSNP
1093084 2021.55 G A PASS 0/1 154 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 rs754139852
dbSNP
101034535 82778.29 G A PASS 0/1 631 None None None -0.85 None None None None None None None

ZNF862

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 rs753667364
dbSNP
149558995 5606.73 C T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.03 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 rs59519028
dbSNP
132179620 7561.86 A G PASS 0/1 58 None None None 0.08327 0.08327 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs578167570
dbSNP
101815881 4865.28 T C PASS 1/1 17 None None None 0.00040 0.00040 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs564625263
dbSNP
20739150 32336.65 C G PASS 0/1 12 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs560559773
dbSNP
2632431 357.32 C T PASS 0/1 7 None None None 0.00300 0.00300 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs560237066
dbSNP
47557332 571.5 A G PASS 1/1 4 None None None 0.00040 0.00040 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs557679028
dbSNP
2596888 743.97 T G PASS 0/1 51 None None None 0.00020 0.00020 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 rs542958483
dbSNP
87549827 153758.59 A G PASS 0/1 63 None None None 0.00080 0.00080 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs540714180
dbSNP
48520070 2339.57 G A PASS 0/1 98 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs540455834
dbSNP
100707633 57.59 G A PASS 0/1 11 None None None 0.00080 0.00080 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs538996180
dbSNP
106022244 28741.13 T C PASS 0/1 62 None None None 0.00020 0.00020 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 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 rs534902016
dbSNP
81752010 44424.07 C T PASS 1/1 12 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs528640024
dbSNP
101215012 2632.57 C T PASS 0/1 9 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs372505385
dbSNP
22856744 32723.84 G C PASS 1/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs368241022
dbSNP
101051857 25674.3 G A PASS 0/1 71 None None None 0.96 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs201220621
dbSNP
6855400 1268.17 A G PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs200291181
dbSNP
76398595 9371.86 A G PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs190353648
dbSNP
16783470 112689.57 G A PASS 1/1 62 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs187200057
dbSNP
38249520 131252.72 C T PASS 1/1 81 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs185796910
dbSNP
1093336 282.91 G A PASS 0/1 26 None None None 0.00779 0.00779 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs17275047
dbSNP
24744784 40040.8 C T PASS 0/1 20 None None None 0.02196 0.02196 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs144420081
dbSNP
37864497 7048.66 G A PASS 1/1 2 None None None 0.00319 0.00320 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 rs115250680
dbSNP
112456825 11186.25 G A PASS 0/1 27 None None None 0.00879 None None None None None None None
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
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 . 158759640 52975.11 C G PASS 0/1 25 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158735479 339596.41 G A PASS 0/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158735467 322684.41 C G PASS 0/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158687582 3453.59 T C PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158683579 11225.77 T C PASS 1/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158683456 145010.81 G A PASS 1/1 52 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158683414 38815.5 C T PASS 1/1 55 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158680647 68187.34 G T PASS 1/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158675745 18710.47 G A PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158664766 31843.91 A G PASS 1/1 67 None None None None None None None None None None

WDR60

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 . 158664018 20867.3 C T PASS 1/1 6 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 . 158662397 112956.34 G A PASS 1/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158658199 15.89 G T PASS 0/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158644232 4280.35 T C PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158631435 11683.94 C T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158622998 1216.48 T A PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158622341 10029.36 T G PASS 0/1 65 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158591898 514.55 T C PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158591613 980.69 CTGTG C PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158587744 70.74 G T PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158532880 22924.32 T C PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158532646 54968.32 G A PASS 0/1 46 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158532624 48122.32 C A PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158532618 45337.36 C CAA PASS 0/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158263424 366.23 G GCA PASS 1/1 3 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 . 158204981 2519.66 C A PASS 0/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158167219 82148.43 A G PASS 1/1 99 None None None -1.94 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158167203 39001.75 C T PASS 1/1 99 None None None 1.48 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158167187 38678.75 C T PASS 1/1 108 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158166944 8747.79 G A PASS 1/1 118 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158166928 6768.89 C T PASS 1/1 122 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158166814 3260.73 T C PASS 1/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138571 7010.83 G C PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138452 27380.58 C T PASS 0/1 65 None None None 1.55 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138427 27951.58 A G PASS 0/1 52 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138287 15038.58 C G PASS 0/1 117 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138282 13283.82 C T PASS 0/1 125 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158138093 1452.76 A G PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158136602 36355.84 G A PASS 0/1 72 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158136554 9041.52 G GA PASS 0/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158136531 8137.49 G A PASS 0/1 17 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158110846 3418.67 A G PASS 0/1 81 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158110812 2693.76 C T PASS 0/1 89 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158110786 6347.7 A G PASS 1/1 87 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158081283 57252.02 T C PASS 0/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158008207 2233.62 C T PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 158008146 1226.42 AGT A PASS 1/1 5 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157898831 18114.64 T C PASS 0/1 48 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157669772 1005.18 A G PASS 1/1 6 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157669733 1262.77 T C PASS 1/1 10 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157669425 2062.41 G GCA PASS 1/1 16 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157621603 13843.82 G A PASS 0/1 61 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157621591 15154.82 T C PASS 0/1 76 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157621372 237232.54 G A PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157621336 22522.7 T C PASS 0/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157614127 1788.47 A C PASS 0/1 32 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157577996 71748.2 C G PASS 1/1 96 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157576872 7212.68 C G PASS 1/1 14 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 157569042 67961.89 T C PASS 1/1 109 None None None None None None None None None None