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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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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
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Genes at Omim

AGXT2, BRPF1, DPF2, ELOVL5, ERCC6, GDF3, IGF2R, LAMA1, LINGO1, LPIN2, NPC1L1, PKD1, TBC1D20, TCF3, TRIOBP, TRPM4, VARS2, ZEB1,
AGXT2 [Beta-aminoisobutyric acid, urinary excretion of], 210100 (3)
BRPF1 Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3)
DPF2 Coffin-Siris syndrome 7, 618027 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
GDF3 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)
Microphthalmia with coloboma 6, 613703 (3)
Microphthalmia, isolated 7, 613704 (3)
IGF2R Hepatocellular carcinoma, somatic, 114550 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LINGO1 Mental retardation, autosomal recessive 64, 618103 (3)
LPIN2 Majeed syndrome, 609628 (3)
NPC1L1 [Ezetimibe, nonresponse to], 617966 (3)
[Low density lipoprotein cholesterol level QTL 7], 617966 (3)
PKD1 Polycystic kidney disease 1, 173900 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TRPM4 Progressive familial heart block, type IB, 604559 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)

Genes at Clinical Genomics Database

ELOVL5, ERCC6, GDF3, LAMA1, LPIN2, NPC1L1, PKD1, TBC1D20, TCF3, TRIOBP, TRPM4, VARS2, ZEB1,
ELOVL5 Spinocerebellar ataxia 39
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
GDF3 Microphthalmia, isolated 7
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 3, autosomal dominant
Coloboma, ocular
LAMA1 Poretti-Boltshauser syndrome
LPIN2 Majeed syndrome
NPC1L1 Ezetimibe, nonresponse to
PKD1 Polycystic kidney disease, adult type I
TBC1D20 Warburg micro syndrome 4
TCF3 Agammaglobulinemia 8, autosomal dominant
TRIOBP Deafness, autosomal recessive 28
TRPM4 Progressive familial heart block, type IB
VARS2 Combined oxidative phosphorylation deficiency 20
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3

Genes at HGMD

Summary

Number of Variants: 76
Number of Genes: 75

Export to: CSV
  • Page 1 of 1

ABCA9

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 p1-bcemep2058 snp indel excludeflt grch38 17 . 67024711 204.64 C T PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None ABCA9|0.017284198|75.69%

ADCY2

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 7520970 345.64 G A PASS 0/1 23 STOP_GAINED HIGH NONSENSE None None None None None None ADCY2|0.904669113|3.35%

AGXT2

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 35033601 144.64 T C PASS 0/1 16 STOP_GAINED HIGH NONSENSE None None None None None None AGXT2|0.105323014|50.19%

ANKDD1B

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 74931678 201.64 C T PASS 0/1 19 STOP_GAINED HIGH NONSENSE None None None None None None ANKDD1B|0.036539802|66.95%

ARID3C

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 p1-bcemep2058 snp indel excludeflt grch38 9 . 34627943 764.64 C T PASS 0/1 88 STOP_GAINED HIGH NONSENSE None None None None None None ARID3C|0.102060317|50.79%

ARL1

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 p1-bcemep2058 snp indel excludeflt grch38 12 . 101790160 41.64 C A PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None ARL1|0.537479793|14.32%

BRPF1

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 p1-bcemep2058 snp indel excludeflt grch38 3 . 9781618 631.64 T G PASS 0/1 47 STOP_GAINED HIGH NONSENSE None None None None None None BRPF1|0.501033473|15.78%

C6orf47

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 p1-bcemep2058 snp indel excludeflt grch38 6 . 31626851 3172.06 T A PASS 1/1 116 STOP_GAINED HIGH NONSENSE None None None None None None C6orf47|0.057785703|60.46%

CNTLN

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 p1-bcemep2058 snp indel excludeflt grch38 9 . 17394538 417.06 C T PASS 1/1 15 STOP_GAINED HIGH NONSENSE None None None None None None CNTLN|0.534626587|14.4%

COPS8

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 p1-bcemep2058 snp indel excludeflt grch38 2 . 237994668 337.06 C T PASS 1/1 12 STOP_GAINED HIGH NONSENSE None None None None None None COPS8|0.203052899|36.37%

DAB2

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 39389959 332.06 C A PASS 1/1 11 STOP_GAINED HIGH NONSENSE None None None None None None C9|0.0053859|85.32%,DAB2|0.660904718|9.66%

DAXX

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 p1-bcemep2058 snp indel excludeflt grch38 6 . 33288694 2478.06 T C PASS 1/1 83 STOP_GAINED HIGH NONSENSE None None None None None None DAXX|0.484012387|16.54%

DPF2

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 p1-bcemep2058 snp indel excludeflt grch38 11 . 65113271 587.64 C T PASS 0/1 59 STOP_GAINED HIGH NONSENSE None None None None None None DPF2|0.645644944|10.25%

EFNA3

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 p1-bcemep2058 snp indel excludeflt grch38 1 . 155058900 142.64 C T PASS 0/1 15 STOP_GAINED HIGH NONSENSE None None None None None None EFNA3|0.379494206|22.09%

EGFLAM

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 38350712 46.64 C A PASS 0/1 12 STOP_GAINED HIGH NONSENSE None None None None None None EGFLAM|0.291999317|28.22%

EHBP1L1

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 p1-bcemep2058 snp indel excludeflt grch38 11 rs923111062
dbSNP Clinvar
65349020 164.64 C T PASS 0/1 23 STOP_GAINED HIGH NONSENSE None None None None None None EHBP1L1|0.033604375|67.91%

ELOVL5

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 p1-bcemep2058 snp indel excludeflt grch38 6 . 53133990 674.06 G A PASS 1/1 21 STOP_GAINED HIGH NONSENSE None None None None None None ELOVL5|0.228608658|33.49%

EMC4

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 p1-bcemep2058 snp indel excludeflt grch38 15 . 34520668 567.06 C T PASS 1/1 21 STOP_GAINED HIGH NONSENSE None None None None None None EMC4|0.619316774|11.1%

EPPK1

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 p1-bcemep2058 snp indel excludeflt grch38 8 . 144946362 152.64 G A PASS 0/1 16 STOP_GAINED HIGH NONSENSE None None None None None None EPPK1|0.004907463|85.91%

ERCC6

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 p1-bcemep2058 snp indel excludeflt grch38 10 . 50681618 62.64 G A PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None ERCC6|0.075391491|56.19%

ETV4

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 p1-bcemep2058 snp indel excludeflt grch38 17 . 41622361 336.64 G A PASS 0/1 57 STOP_GAINED HIGH NONSENSE None None None None None None ETV4|0.879056141|3.98%

FAM154A

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 p1-bcemep2058 snp indel excludeflt grch38 9 . 18928443 874.64 T C PASS 0/1 83 STOP_GAINED HIGH NONSENSE None None None None None None SAXO1|0.040768994|65.53%

FAM205A

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 p1-bcemep2058 snp indel excludeflt grch38 9 . 34723747 1503.06 C A PASS 1/1 60 STOP_GAINED HIGH NONSENSE None None None None None None FAM205A|0.002678483|89.31%

FASTKD3

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 7866854 1740.06 G C PASS 1/1 69 STOP_GAINED HIGH NONSENSE None None None None None None MTRR|0.020823988|73.75%,FASTKD3|0.00213571|90.65%

FUT5

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 5867166 2252.06 G A PASS 1/1 80 STOP_GAINED HIGH NONSENSE None None None None None None FUT5|0.001156471|94.68%

GDF3

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 p1-bcemep2058 snp indel excludeflt grch38 12 . 7848178 376.06 G C PASS 1/1 13 STOP_GAINED HIGH NONSENSE None None None None None None GDF3|0.016148687|76.36%

GRAMD1A

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 35500141 471.06 G T PASS 1/1 17 STOP_GAINED HIGH NONSENSE None None None None None None GRAMD1A|0.103950782|50.42%

GTF3C1

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 p1-bcemep2058 snp indel excludeflt grch38 16 . 27549565 60.64 G A PASS 0/1 15 STOP_GAINED HIGH NONSENSE None None None None None None GTF3C1|0.06370503|58.96%

HECW1

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 p1-bcemep2058 snp indel excludeflt grch38 7 . 43360275 51.64 G T PASS 0/1 9 STOP_GAINED HIGH NONSENSE None None None None None None HECW1|0.293834197|28.13%

HIP1R

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 p1-bcemep2058 snp indel excludeflt grch38 12 . 123341012 1447.06 C T PASS 1/1 65 STOP_GAINED HIGH NONSENSE None None None None None None HIP1R|0.107327485|49.72%

IGF2R

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 p1-bcemep2058 snp indel excludeflt grch38 6 . 160482590 500.06 G A PASS 1/1 15 STOP_GAINED HIGH NONSENSE None None None None None None IGF2R|0.085869255|53.96%

ILK

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 p1-bcemep2058 snp indel excludeflt grch38 11 . 6631387 533.64 C T PASS 0/1 51 STOP_GAINED HIGH NONSENSE None None None None None None ILK|0.927031493|2.82%,TAF10|0.251862987|31.38%

KIAA0100

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 p1-bcemep2058 snp indel excludeflt grch38 17 . 26962574 148.64 T C PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None KIAA0100|0.537691252|14.31%

LAMA1

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 p1-bcemep2058 snp indel excludeflt grch38 18 . 6999629 417.64 T C PASS 0/1 43 STOP_GAINED HIGH NONSENSE None None None None None None LAMA1|0.056830169|60.73%

LILRB2

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 54778572 245.69 C A PASS 0/1 10 STOP_GAINED HIGH NONSENSE None None None None None None LILRB2|0.000967305|95.68%

LINGO1

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 p1-bcemep2058 snp indel excludeflt grch38 15 . 77908179 89.64 G A PASS 0/1 10 STOP_GAINED HIGH NONSENSE None None None None None None LINGO1|0.530394457|14.58%

LPIN2

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 p1-bcemep2058 snp indel excludeflt grch38 18 . 2937701 347.64 T C PASS 0/1 21 STOP_GAINED HIGH NONSENSE None None None None None None LPIN2|0.184144576|38.45%

LRG1

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 4538587 1049.64 G A PASS 0/1 75 STOP_GAINED HIGH NONSENSE None None None None None None LRG1|0.001329453|93.7%

MAP1S

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 17844138 317.64 G A PASS 0/1 24 STOP_GAINED HIGH NONSENSE None None None None None None MAP1S|0.008624862|82.01%

MEGF9

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 p1-bcemep2058 snp indel excludeflt grch38 9 . 123367625 524.64 C T PASS 0/1 47 STOP_GAINED HIGH NONSENSE None None None None None None MEGF9|0.125329506|46.59%

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 p1-bcemep2058 snp indel excludeflt grch38 7 . 100676984 58.64 G T PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None MUC17|0.000618625|97.79%

NANOGNB

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 p1-bcemep2058 snp indel excludeflt grch38 12 . 7922690 245.04 C T PASS 1/1 8 STOP_GAINED HIGH NONSENSE None None None None None None NANOGNB|0.000761292|96.92%

NDUFV3

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 p1-bcemep2058 snp indel excludeflt grch38 21 . 44323711 801.06 C T PASS 1/1 26 STOP_GAINED HIGH NONSENSE None None None None None None NDUFV3|0.002736979|89.18%

NEURL4

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 p1-bcemep2058 snp indel excludeflt grch38 17 . 7229843 1102.64 G A PASS 0/1 101 STOP_GAINED HIGH NONSENSE None None None None None None NEURL4|0.15446924|42.36%

NISCH

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 p1-bcemep2058 snp indel excludeflt grch38 3 . 52512471 1452.06 C T PASS 1/1 50 STOP_GAINED HIGH NONSENSE None None None None None None NISCH|0.147521349|43.38%

NLGN2

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 p1-bcemep2058 snp indel excludeflt grch38 17 . 7318388 1886.06 G T PASS 1/1 65 STOP_GAINED HIGH NONSENSE None None None None None None NLGN2|0.211516062|35.41%

NPC1L1

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 p1-bcemep2058 snp indel excludeflt grch38 7 . 44579703 519.06 T C PASS 1/1 17 STOP_GAINED HIGH NONSENSE None None None None None None NPC1L1|0.027399029|70.7%

OR4N2

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 p1-bcemep2058 snp indel excludeflt grch38 14 . 20295872 77.64 C T PASS 0/1 15 STOP_GAINED HIGH NONSENSE None None None None None None OR4N2|0.024591283|71.98%

OR6J1

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 p1-bcemep2058 snp indel excludeflt grch38 14 . 23103706 758.06 C T PASS 1/1 28 STOP_GAINED HIGH NONSENSE None None None None None None OR6J1|0.013580709|78.13%

PAK1IP1

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 p1-bcemep2058 snp indel excludeflt grch38 6 . 10702678 246.64 G A PASS 0/1 27 STOP_GAINED HIGH NONSENSE None None None None None None PAK1IP1|0.076896308|55.94%

PCOLCE

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 p1-bcemep2058 snp indel excludeflt grch38 7 . 100200169 529.06 A G PASS 1/1 19 STOP_GAINED HIGH NONSENSE None None None None None None PCOLCE|0.111525118|48.94%

PDZD2

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 32058009 2159.06 A G PASS 1/1 81 STOP_GAINED HIGH NONSENSE None None None None None None PDZD2|0.024990827|71.81%

PKD1

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 p1-bcemep2058 snp indel excludeflt grch38 16 . 2153455 461.06 T C PASS 1/1 15 STOP_GAINED HIGH NONSENSE None None None None None None PKD1|0.292536248|28.17%

PLEKHG4B

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 174125 639.06 G A PASS 1/1 15 STOP_GAINED HIGH NONSENSE None None None None None None PLEKHG4B|0.00235175|90.04%

PLEKHM2

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 p1-bcemep2058 snp indel excludeflt grch38 1 . 16044404 93.64 G A PASS 0/1 7 STOP_GAINED HIGH NONSENSE None None None None None None PLEKHM2|0.162189796|41.27%

PRUNE

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 p1-bcemep2058 snp indel excludeflt grch38 1 . 150998101 1963.06 G T PASS 1/1 70 STOP_GAINED HIGH NONSENSE None None None None None None PRUNE|0.15166661|42.73%

RBM42

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 36125268 103.64 C A PASS 0/1 10 STOP_GAINED HIGH NONSENSE None None None None None None RBM42|0.252947196|31.29%

RECK

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 p1-bcemep2058 snp indel excludeflt grch38 9 . 36105267 755.64 A G PASS 0/1 51 STOP_GAINED HIGH NONSENSE None None None None None None RECK|0.370551929|22.67%

RGPD4

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 p1-bcemep2058 snp indel excludeflt grch38 2 . 108487705 185.64 C A PASS 0/1 22 STOP_GAINED HIGH NONSENSE None None None None None None RGPD4|0.009702593|81.07%

RGS6

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 p1-bcemep2058 snp indel excludeflt grch38 14 . 72961952 415.64 G A PASS 0/1 34 STOP_GAINED HIGH NONSENSE None None None None None None RGS6|0.590032694|12.13%

SOGA2

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 p1-bcemep2058 snp indel excludeflt grch38 18 . 8706145 1016.06 C T PASS 1/1 39 STOP_GAINED HIGH NONSENSE None None None None None None MTCL1|0.05343424|61.65%

SORCS2

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 p1-bcemep2058 snp indel excludeflt grch38 4 . 7726931 133.64 C T PASS 0/1 20 STOP_GAINED HIGH NONSENSE None None None None None None SORCS2|0.02979859|69.5%

TARM1

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 54577330 58.64 G T PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None TARM1|0.000256299|99.59%

TBC1D20

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 p1-bcemep2058 snp indel excludeflt grch38 20 . 419867 439.64 C A PASS 0/1 31 STOP_GAINED HIGH NONSENSE None None None None None None TBC1D20|0.217946046|34.62%

TCF3

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 1619340 1478.06 T C PASS 1/1 47 STOP_GAINED HIGH NONSENSE None None None None None None TCF3|0.245655787|31.96%

TEX2

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 p1-bcemep2058 snp indel excludeflt grch38 17 . 62270964 135.64 G A PASS 0/1 25 STOP_GAINED HIGH NONSENSE None None None None None None TEX2|0.334129955|25.16%

TRIOBP

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 p1-bcemep2058 snp indel excludeflt grch38 22 . 38109340 593.64 G A PASS 0/1 53 STOP_GAINED HIGH NONSENSE None None None None None None TRIOBP|0.083019472|54.57%

TRPM4

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 49685899 372.05 G A PASS 1/1 12 STOP_GAINED HIGH NONSENSE None None None None None None TRPM4|0.032654157|68.31%

TTBK1

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 p1-bcemep2058 snp indel excludeflt grch38 6 . 43221084 203.64 C G PASS 0/1 22 STOP_GAINED HIGH NONSENSE None None None None None None TTBK1|0.140190844|44.37%

VARS2

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 p1-bcemep2058 snp indel excludeflt grch38 6 . 30893448 1763.06 G A PASS 1/1 69 STOP_GAINED HIGH NONSENSE None None None None None None VARS2|0.057795482|60.45%

ZDHHC18

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 p1-bcemep2058 snp indel excludeflt grch38 1 . 27177054 482.64 C T PASS 0/1 46 STOP_GAINED HIGH NONSENSE None None None None None None ZDHHC18|0.314387246|26.47%

ZEB1

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 p1-bcemep2058 snp indel excludeflt grch38 10 . 31810609 40.64 T A PASS 0/1 14 STOP_GAINED HIGH NONSENSE None None None None None None ZEB1|0.848008697|4.69%

ZFYVE16

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 p1-bcemep2058 snp indel excludeflt grch38 5 . 79732763 503.64 C T PASS 0/1 70 STOP_GAINED HIGH NONSENSE None None None None None None ZFYVE16|0.119859967|47.47%
View p1-bcemep2058 snp indel excludeflt grch38 5 . 79734389 449.64 C T PASS 0/1 61 STOP_GAINED HIGH NONSENSE None None None None None None ZFYVE16|0.119859967|47.47%

ZNF414

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 8577276 1459.06 T C PASS 1/1 56 STOP_GAINED HIGH NONSENSE None None None None None None ZNF414|0.022516741|72.91%

ZNF541

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 p1-bcemep2058 snp indel excludeflt grch38 19 . 48048289 2032.06 A T PASS 1/1 70 STOP_GAINED HIGH NONSENSE None None None None None None ZNF541|0.018322602|75.07%
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