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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
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Genes at Omim

AMACR, ANKH, C6, C7, C9, CCT5, COL4A3BP, DIAPH1, DNAH5, FAM134B, GHR, IL7R, LIFR, MTRR, NADK2, NDUFS6, NNT, NPR3, NSUN2, OSMR, OXCT1, PDE6A, PDGFRB, SDHA, SLC1A3, SLC45A2, SLC6A19, SLC9A3, TERT, TRIO,
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
ANKH Chondrocalcinosis 2, 118600 (3)
Craniometaphyseal dysplasia, 123000 (3)
C6 C6 deficiency, 612446 (3)
Combined C6/C7 deficiency (3)
C7 C7 deficiency, 610102 (3)
C9 C9 deficiency, 613825 (3)
{Macular degeneration, age-related, 15, susceptibility to}, 615591 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
DIAPH1 Deafness, autosomal dominant 1, 124900 (3)
Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
GHR Growth hormone insensitivity, partial, 604271 (3)
Increased responsiveness to growth hormone (3)
Laron dwarfism, 262500 (3)
{Hypercholesterolemia, familial, modifier of}, 143890 (3)
IL7R Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
MTRR Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
NADK2 ?2,4-dienoyl-CoA reductase deficiency, 616034 (3)
NDUFS6 Mitochondrial complex I deficiency, 252010 (3)
NNT Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3)
NPR3 ?Hypertension, salt-resistant (1)
NSUN2 Mental retardation, autosomal recessive 5, 611091 (3)
OSMR Amyloidosis, primary localized cutaneous, 1, 105250 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PDE6A Retinitis pigmentosa 43, 613810 (3)
PDGFRB Basal ganglia calcification, idiopathic, 4, 615007 (3)
Kosaki overgrowth syndrome, 616592 (3)
Myeloproliferative disorder with eosinophilia, 131440 (4)
Myofibromatosis, infantile, 1, 228550 (3)
Premature aging syndrome, Penttinen type, 601812 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SLC1A3 Episodic ataxia, type 6, 612656 (3)
SLC45A2 Albinism, oculocutaneous, type IV, 606574 (3)
[Skin/hair/eye pigmentation 5, black/nonblack hair], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/fair skin], 227240 (3)
[Skin/hair/eye pigmentation 5, dark/light eyes], 227240 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
TERT {Dyskeratosis congenita, autosomal dominant 2}, 613989 (3)
{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3)
{Leukemia, acute myeloid}, 601626 (3)
{Melanoma, cutaneous malignant, 9}, 615134 (3)
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)

Genes at Clinical Genomics Database

AMACR, ANKH, C6, C7, C9, CCT5, COL4A3BP, DIAPH1, DNAH5, FAM134B, GHR, IL7R, LIFR, MTRR, NADK2, NDUFS6, NNT, OSMR, OXCT1, PDE6A, PDGFRB, SDHA, SLC1A3, SLC45A2, SLC6A19, TERT,
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
ANKH Chondrocalcinosis 2
Craniometaphyseal dysplasia
C6 Complement component 6 deficiency
C7 Complement component 7 deficiency
C9 Complement component 9 deficiency
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
COL4A3BP Mental retardation, autosomal dominant 34
DIAPH1 Deafness, autosomal dominant 1
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
FAM134B Neuropathy, hereditary sensory and autonomic, type IIB
GHR Growth hormone insensitivity syndrome (Laron syndrome)
IL7R Severe combined immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell positive
LIFR Stuve-Wiedemann syndrome
MTRR Homocystinuria-megaloblastic anemia, cobalamin E type
NADK2 2,4-dienoyl-CoA reductase deficiency
NDUFS6 Mitochondrial complex I deficiency
NNT Glucocorticoid deficiency 4
OSMR Amyloidosis, primary localized cutaneous, 1
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PDE6A Retinitis pigmentosa 43
PDGFRB Premature aging syndrome, Penttinen type
Myofibromatosis, infantile 1
Kosaki overgrowth syndrome
Basal ganglia calcification, idiopathic, 4
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SLC1A3 Episodic ataxia, type 6
SLC45A2 Skin/hair/eye pigmentation 5
Oculocutaneous albinism, type IV
SLC6A19 Hartnup disease
TERT Pulmonary fibrosis and/or bone marrow failure, telomere-related 1
Dyskeratosis congenita, autosomal recessive
Dyskeratosis congenita, autosomal dominant
Aplastic anemia

Genes at HGMD

Summary

Number of Variants: 5409
Number of Genes: 128

Export to: CSV

AC026703.1

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 5 . 32789746 98255.74 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTS12

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 5 . 33649800 24156.11 G A PASS 0/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33643512 56300.11 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33642058 4566.37 G A PASS 0/1 58 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 rs760147804
dbSNP
33637794 51827.5 G A PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33637786 56636.02 C A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596138 48751.23 C T PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.10 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596119 55239.23 C T PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33596088 66982.23 A G PASS 0/1 13 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33649702 68804.11 C A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ADAMTS16

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 5 . 5146264 122106.14 T C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.81 1.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5140857 4221.66 C T PASS 0/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5146282 55555.32 A G PASS 0/1 72 SYNONYMOUS_CODING LOW -1.57 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5140845 4080.2 T A PASS 0/1 35 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5186299 1002.9 A AGG PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 5303501 11395.2 C T PASS 0/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ADAMTS6

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 5 . 64769450 591.15 G T PASS 0/1 9 SYNONYMOUS_CODING LOW SILENT None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 5 . 7757592 67605.05 T C,* PASS 0/2 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 7695915 24678.85 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.85 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 7717283 31216.61 T C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 7757570 235.63 TG... T PASS 0/1 21 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 7757602 64107.18 C T,* PASS 0/2 21 SYNONYMOUS_CODING LOW None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 5 . 35026594 1190.28 GA G,GAA PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 35026578 43471.39 A G PASS 1/1 38 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 35033601 14530.77 T C PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None

AHRR

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 5 . 434607 4210.22 G C PASS 1/1 58 SYNONYMOUS_CODING LOW 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 434886 45.01 C T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 434883 1220.17 C T PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 434866 6233.92 G C PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24 0.82 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 353936 35681.1 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 413524 16457.61 G C PASS 0/1 49 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 rs778799504
dbSNP
413479 40623.66 G C PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 413476 19544.27 G A PASS 0/1 70 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 428051 5249.91 GC G PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 434906 22.39 T G PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41 0.12 None None None None None None None

AMACR

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 5 . 33994211 231.1 G A PASS 0/1 6 None None None 0.11 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 34008101 2993.35 CC... C PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 34007995 8025.79 C T PASS 0/1 114 SYNONYMOUS_CODING LOW 0.94 None None rs3195676 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33998778 124359.02 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.66 -0.66 None None rs2287939 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33989413 131600.74 C T PASS 1/1 79 SYNONYMOUS_CODING LOW SILENT 2.43 None None rs2278008 3 not_specified 0 None
View 23 recalibrated filtered postcgp gqfiltered 5 . 33988430 1405.42 C T PASS 0/1 9 SYNONYMOUS_CODING LOW None None None None None None None

ANKH

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 5 . 14751290 31542.55 C T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None

ANKRD33B

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 5 . 10564734 1243.18 C T PASS 1/1 24 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10650155 12.0 G T PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10638252 785.18 A G PASS 0/1 47 SYNONYMOUS_CODING LOW None None None None None None None

ANKRD55

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 5 . 55422790 19137.58 G C PASS 1/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANXA2R

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 5 . 43039691 44863.68 T C PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.00 -1.57 None None None None None None None

BASP1

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 5 . 17275944 9590.99 CC... CC... PASS 1/1 1 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 17275593 161.79 C T PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40 0.00 0.36 None None None None None None None

BRD9

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 5 . 892731 599.38 C T PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 889254 768.35 C T PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 869431 648.68 C T PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 889808 2672.56 C T PASS 0/1 29 None None None 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 889809 2672.56 C G PASS 0/1 29 None None None 0.27 0.61 None None None None None None None

C5orf22

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 5 . 31538585 21837.2 A C PASS 0/1 40 SYNONYMOUS_CODING LOW -1.65 None None None None None None None

C5orf34

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 5 . 43505891 133075.29 A G PASS 0/1 38 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 43509360 117207.93 T TC PASS 1/1 110 FRAME_SHIFT HIGH None None None None None None None

C5orf38

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 5 . 2755371 845.45 C T PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 1.30 None None None None None None None

C5orf49

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 5 . 7835572 44442.1 G T PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77 0.01 None None None None None None None

C6

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 5 rs377130163
dbSNP
41143061 21.63 C A PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00008 0.03 0.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 41154048 47956.08 A C PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25 0.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 41203242 25179.3 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.19 None None None None None None None

C7

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 5 . 40972667 19041.88 G A PASS 0/1 185 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 40950055 2537.4 C CT PASS 0/1 73 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 40980000 4827.31 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 40979984 12568.81 T C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.27 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 40981587 14769.88 C A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 40928690 4689.19 T A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.01 None None None None None None None

C9

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 5 rs779251528
dbSNP
39342206 58377.71 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CAPSL

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 5 . 35921164 19531.9 G A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.00 None None None None None None None

CARD6

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 5 . 40860173 73.52 A G PASS 0/1 8 None None None None None None None None None None

CCDC152

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 5 . 42779584 423.51 G GA PASS 0/1 34 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 42769742 569.73 G T PASS 0/1 31 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CCT5

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 5 . 10263350 50116.96 GGA G,* PASS 2/2 41 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10254909 32282.78 T C PASS 1/1 23 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10256253 10429.56 C T PASS 1/1 74 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10261854 31520.78 G A PASS 1/1 34 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10264850 92022.78 A G PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10262628 95500.78 C A PASS 1/1 145 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263341 78955.33 GA G PASS 1/1 47 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263342 77587.28 AG AGG,* PASS 2/2 47 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263345 54292.76 G A PASS 1/1 41 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263349 51445.35 GGGA G PASS 1/1 41 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263352 48609.47 A G,* PASS 2/2 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263351 52324.85 GA G,* PASS 2/2 41 FRAME_SHIFT HIGH None None None None None None None

CDH10

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 5 . 24498581 32850.61 T C PASS 0/1 24 SYNONYMOUS_CODING LOW None None None None None None None

CDH12

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 5 . 21755835 2033.4 T C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 21751941 136969.0 A G PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 21751947 140986.0 A G PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CDH18

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 5 . 19520823 80858.73 T C PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CDH6

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 5 . 31317845 63678.53 T C PASS 0/1 104 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CDH9

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 5 . 26886091 26730.02 C A PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CEP72

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 5 . 619218 91134.1 T C PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CLK4

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 5 . 178039529 21562.97 G C PASS 0/1 5 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CLPTM1L

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 5 . 1335270 4787.37 CTG C PASS 0/1 27 FRAME_SHIFT HIGH None None None None None None None

CMBL

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 5 . 10282367 22511.16 C T PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None None

CMYA5

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 5 . 79030927 43536.22 G C PASS 0/1 81 SYNONYMOUS_CODING LOW SILENT 1.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 79031099 14392.86 CG... C PASS 0/1 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 79028659 155158.22 T C PASS 0/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 79032737 82103.67 G A PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None