SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
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
RESET FILTER | Save Config | Save Analysis

Genes at Omim

ALG3, APPL1, BTD, CISH, CLDN16, EIF4G1, FYCO1, GHRL, HYAL1, JAGN1, LAMB2, LARS2, MST1R, PCYT1A, RNF168, SETD2, SETD5, SLCO2A1, TF, TFRC,
ALG3 Congenital disorder of glycosylation, type Id, 601110 (3)
APPL1 {Maturity-onset diabetes of the young, type 14}, 616511 (3)
BTD Biotinidase deficiency, 253260 (3)
CISH {Bacteremia, susceptibility to}, 614383 (3)
{Malaria, susceptibility to}, 611162 (3)
{Tuberculosis, susceptibility to}, 607948 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
EIF4G1 {Parkinson disease 18}, 614251 (3)
FYCO1 Cataract 18, autosomal recessive, 610019 (3)
GHRL {Obesity, susceptibility to}, 601665 (3)
HYAL1 ?Mucopolysaccharidosis type IX, 601492 (3)
JAGN1 Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3)
Pierson syndrome, 609049 (3)
LARS2 ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3)
Perrault syndrome 4, 615300 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
RNF168 RIDDLE syndrome, 611943 (3)
SETD2 Luscan-Lumish syndrome, 616831 (3)
SETD5 Mental retardation, autosomal dominant 23, 615761 (3)
SLCO2A1 Hypertrophic osteoarthropathy, primary, autosomal recessive 2, 614441 (3)
TF Atransferrinemia, 209300 (3)
TFRC Immunodeficiency 46, 616740 (3)

Genes at Clinical Genomics Database

ALG3, APPL1, BTD, CCDC14, CLDN16, DNAH1, EIF4G1, FYCO1, HYAL1, JAGN1, LAMB2, LARS2, PBRM1, PCYT1A, PTH1R, RNF168, SETD2, SETD5, SLCO2A1, TF, TFRC,
ALG3 Congenital disorder of glycosylation, type Id
APPL1 Maturity-onset diabetes of the young, type 14
BTD Biotinidase deficiency
CCDC14 Hypotonia, infantile, with psychomotor retardation
CLDN16 Hypomagnesemia 3, renal
DNAH1 Spermatogenic failure
EIF4G1 Macular dystrophy with central cone involvement
Parkinson disease 18
FYCO1 Cataract, autosomal recessive congenital 2
HYAL1 Mucopolysaccharidosis type IX
JAGN1 Neutropenia, severe congenital, 6
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities
Pierson syndrome
LARS2 Perrault syndrome 4
PBRM1 Clear cell renal cell carcinoma
PCYT1A Spondylometaphyseal dysplasia with cone-rod dystrophy
PTH1R Failure of tooth eruption, primary
Metaphyseal chondrodysplasia, Murk Jansen type
Chondrodysplasia, Blomstrand type
Eiken syndrome
RNF168 RIDDLE syndrome
SETD2 Luscan-Lumish syndrome
SETD5 Mental retardation, autosomal dominant 23
SLCO2A1 Primary hypertrophic osteoarthropathy
Hypertrophic osteoarthropathy, primary, autosomal recessive 2
TF Atransferrinemia
TFRC Immunodeficiency 46

Genes at HGMD

Summary

Number of Variants: 6471
Number of Genes: 103

Export to: CSV

ABCC5

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 3 . 183643358 316.35 C T PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 183643468 1152.62 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None None None None None None None

ACAD11

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 3 . 132350184 12606.13 CAAG C PASS 0/1 9 CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION MODERATE None None None None None None None

ACKR2

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 3 . 42906284 1081.81 T C PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.51 None None None None None None None

ALAS1

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 3 . 52238929 2980.7 C CG... PASS 0/1 12 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None

ALG3

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 3 . 183961744 61429.13 A G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46 0.98 None None None None None None None

APEH

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 3 . 49714385 25.07 G A PASS 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 49716355 289860.7 A G PASS 1/1 56 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 49720317 254.45 GA G,GAA PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 49714423 3518.07 T C PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.28 None None None None None None None

APPL1

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 3 rs141281784
dbSNP
57283558 461.3 C T PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00038 0.00 0.02 None None None None None None None

ASB14

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 3 . 57322300 241.67 C A PASS 0/1 14 SYNONYMOUS_CODING LOW None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 3 . 9781618 322.05 T G PASS 0/1 43 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 9787542 3955.79 A C PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BSN

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 3 . 49699890 16873.37 A G PASS 1/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 49699132 61633.12 G A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 49698739 11977.88 C A PASS 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 49698313 5905.0 C G PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None

BTD

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 3 . 15677145 26081.84 T A PASS 0/1 12 SYNONYMOUS_CODING LOW None None None None None None None

C3orf33

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 3 . 155523951 308064.03 A G PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.87 None None None None None None None

CADPS

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 3 . 62570947 254171.34 A G PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.04 None None None None None None None

CAMKV

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 3 . 49898669 37201.77 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 -3.31 None None None None None None None

CCDC14

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 3 . 123666088 1528.37 G A PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.96 None None None None None None None

CCDC37

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 3 . 126153139 1273.86 G A PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53 0.03 None None None None None None None

CCRL2

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 3 . 46449800 7641.02 G A PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

CELSR3

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 3 . 48682205 63121.02 T C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 48694528 271.55 A G PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 48685869 1303.51 G C PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None

CHRD

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 3 . 184100184 740.2 A G PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 184101367 29072.57 T C PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 184105788 195269.9 T C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27 0.05 None None None None None None None

CISH

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 3 . 50645468 5358.91 T C PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

CLDN16

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 3 rs761824865
dbSNP
190120204 6571.33 G A PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.98 None None None None None None None

CNTN4

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 3 . 3076458 4714.28 G T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 3076321 4403.44 TTG T PASS 0/1 27 FRAME_SHIFT HIGH None None None None None None None

COL6A5

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 3 . 130103962 701.63 G A PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.91 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 130103796 74582.89 A G PASS 1/1 37 SYNONYMOUS_CODING LOW None None None None None None None

CRYBG3

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 3 . 97592885 4825.01 T C PASS 0/1 13 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DLG1

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 3 . 197023257 10.24 G A PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 197023336 5041.21 A G PASS 1/1 4 SYNONYMOUS_CODING LOW None None None None None None None

DNAH1

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 3 . 52389010 35.68 C A PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52356539 10134.65 C T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52356773 1194.6 C T PASS 0/1 69 SYNONYMOUS_CODING LOW SILENT 6.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52381849 15032.09 A G PASS 1/1 129 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52389013 35.69 C A PASS 0/1 13 SYNONYMOUS_CODING LOW None None None None None None None

DNAH12

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 3 . 57415451 288.38 G C PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 6.15 None None None None None None None

DOCK3

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 3 . 51413256 40969.36 T A PASS 1/1 21 SYNONYMOUS_CODING LOW SILENT None None None None None None None

EEFSEC

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 3 . 128060377 8115.88 C T PASS 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 128060463 17671.88 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46 0.00 None None None None None None None

EFCAB12

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 3 . 129140359 476265.43 C CTTAG PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 129127514 30.31 A T PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 1.00 None None None None None None None

EIF4G1

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 3 . 184039487 2050.54 C T PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 184038638 36551.68 T C PASS 0/1 81 None None None 0.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 184039109 5169.27 A G PASS 0/1 23 SYNONYMOUS_CODING LOW None None None None None None None

ENTPD3

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 3 . 40457354 16152.87 C T PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 40464395 1670.41 C G PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 40457442 17268.32 A G PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42 0.23 None None None None None None None

ESYT3

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 3 . 138187690 385.67 A G PASS 0/1 31 SYNONYMOUS_CODING LOW SILENT None None None None None None None

EXOSC7

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 3 . 45031091 998.8 T C PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55 0.00 None None None None None None None

FAM208A

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 3 . 56682894 2151.26 T G PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 1.33 None None None None None None None

FANCD2OS

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 3 . 10144763 63.03 A T PASS 0/1 3 None None None 1.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 10144731 30.9 A G PASS 0/1 7 None None None 0.68 0.00 None None None None None None None

FBXO45

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 3 . 196296090 885.63 G T PASS 0/1 87 SYNONYMOUS_CODING LOW None None None None None None None

FBXW12

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 3 . 48419904 13076.53 G C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.10 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 48422209 50817.11 A T PASS 0/1 79 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 48422302 19086.33 C T PASS 0/1 52 SYNONYMOUS_CODING LOW SILENT None None None None None None None

FYCO1

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 3 . 45979726 159147.76 G T PASS 1/1 51 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GALNT15

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 3 . 16264167 25178.32 C G PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.08 None None None None None None None

GHRL

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 3 . 10331823 336.11 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None None None None None None None

GOLGA4

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 3 . 37366173 410.58 G T PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 37365998 662.51 A G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 None None None None None None None

GORASP1

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 3 . 39141917 648.17 C T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.00 None None None None None None None

GPR128

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 3 . 100373684 123371.82 T TGCA PASS 1/1 36 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 100373682 120447.82 A AG PASS 1/1 37 FRAME_SHIFT HIGH None None None None None None None

HEG1

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 3 . 124732437 571.41 T C PASS 0/1 39 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 124731474 180.47 T C PASS 0/1 19 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 124739969 48828.52 C G PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16 0.04 None None None None None None None

HYAL1

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 3 . 50338175 421.35 A AC PASS 0/1 4 FRAME_SHIFT HIGH None None None None None None None

IGSF10

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 3 . 151163987 10782.94 A C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.01 0.38 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 151165813 86668.36 C T PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT None None None None None None None

IRAK2

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 3 . 10219553 7971.35 A C PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 10219610 14905.22 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 10219611 5463.56 C T PASS 0/1 53 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 10219564 8959.51 T C PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ITIH1

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 3 . 52812970 500.1 AT... A PASS 1/1 9 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52817121 25800.36 T C PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.59 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52813528 8030.36 C A PASS 0/1 67 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52813585 30968.27 C T PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52823762 7317.36 T A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.96 None None None None None None None

ITIH3

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 3 . 52830619 11383.28 A G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52836713 2526.78 C CA PASS 1/1 47 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52833795 13141.85 A T PASS 1/1 78 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 52830568 65511.36 A G PASS 0/1 96 SYNONYMOUS_CODING LOW SILENT None None None None None None None

JAGN1

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 3 . 9935033 137.23 A G PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27 0.03 None None None None None None None

LAMB2

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 3 . 49163194 69170.05 A G PASS 1/1 185 SYNONYMOUS_CODING LOW -0.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 . 49163259 69143.14 T A PASS 1/1 237 SYNONYMOUS_CODING LOW SILENT -2.19 None None None None None None None

LARS2

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 3 . 45518027 85916.45 T C PASS 1/1 50 SYNONYMOUS_CODING LOW None None None None None None None

METTL6

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 3 . 15467820 1680.71 C G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.74 None None None None None None None

MST1

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 3 . 49724180 1071.76 C T PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 3 rs2761539
dbSNP
49724172 932.32 C T PASS 0/1 39 STOP_GAINED HIGH NONSENSE None None None None None None None