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

AHCY, EEF1A2, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 (3)
EEF1A2 Mental retardation, autosomal dominant 38, 616393 (3)
Epileptic encephalopathy, early infantile, 33, 616409 (3)
IDH3B Retinitis pigmentosa 46, 612572 (3)
KCNQ2 Seizures, benign neonatal, 1, 121200 (3)
Myokymia, 121200 (3)
Epileptic encephalopathy, early infantile, 7, 613720 (3)
NOP56 Spinocerebellar ataxia 36, 614153 (3)
PRPF6 Retinitis pigmentosa 60, 613983 (3)
SNTA1 Long QT syndrome 12, 612955 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)

Genes at Clinical Genomics Database

AHCY, EEF1A2, FERMT1, IDH3B, KCNQ2, NOP56, PRPF6, SNTA1, TBC1D20,
AHCY Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency
EEF1A2 Mental retardation, autosomal dominant 28
Epileptic encephalopathy, early infantile, 33
FERMT1 Kindler syndrome
IDH3B Retinitis pigmentosa, autosomal recessive, IDH3B-related
KCNQ2 Myokymia
Benign familial neonatal seizures, 1
Epileptic encephalopathy, early infantile, 7
NOP56 Spinocerebellar ataxia 36
PRPF6 Retinitis pigmentosa 60
SNTA1 Long QT syndrome 12
TBC1D20 Warburg micro syndrome 4

Genes at HGMD

Summary

Number of Variants: 2943
Number of Genes: 45

Export to: CSV

ACTR5

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 20 . 37384614 959.84 A G PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.79 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37394136 23182.82 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.94 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 37384622 937.31 A G PASS 1/1 1 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs772679338
dbSNP
37384620 1021.57 A G PASS 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.60 None None None None None None None

ADAM33

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 20 . 3660176 7261.63 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None None None None None None None

ADIG

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 20 . 37209969 47698.13 T A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47 0.01 None None None None None None None

AHCY

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 20 . 32878581 986.69 A G PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32878728 2392.54 C T PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.99 6.07 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32878541 613.49 C T PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 32878558 797.85 C T PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.65 None None None None None None None

AL031666.2

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 20 . 45947863 501.25 T C PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None

ARFGAP1

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 20 . 61910271 12246.34 C T PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

ARFRP1

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 20 . 62332619 23569.92 G A PASS 0/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62338071 5274.94 A G PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

ATRN

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 20 . 3565496 690.72 G A PASS 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

C20orf96

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 20 . 257899 39327.55 C T PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 259056 100294.5 G C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 259047 91731.07 G A PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 259023 60766.5 T C PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 257889 44111.5 T G PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

COL20A1

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 20 . 61940764 2635.59 A G PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CPXM1

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 20 . 2774932 37.58 G GC PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CSRP2BP

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 20 . 18162473 133033.45 T G PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.02 1.86 None None None None None None None

DSN1

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 20 . 35384111 44971.73 C T PASS 0/1 44 SYNONYMOUS_CODING LOW -0.52 None None None None None None None

EEF1A2

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 20 . 62129061 2146.48 A G PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

EYA2

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 20 . 45725748 88583.67 A C PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 rs761096505
dbSNP
45725733 75496.51 G A PASS 1/1 24 PROTEIN_INTERACTION_LOCUS HIGH 0.00 0.97 None None None None None None None

FERMT1

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 20 . 6077563 1823.96 T C PASS 1/1 4 SYNONYMOUS_CODING LOW None None None None None None None

HELZ2

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 20 . 62198979 14334.67 A G PASS 0/1 55 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None None

IDH3B

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 20 . 2641352 26695.32 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None

KCNQ2

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 20 . 62065249 392.61 TG... T PASS 1/1 3 CODON_CHANGE_PLUS_CODON_DELETION+SPLICE_SITE_REGION MODERATE None None None None None None None

MRPS26

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 20 . 3027048 43444.28 A AGGT PASS 0/1 28 CODON_INSERTION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3026846 38054.49 T C PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

NELFCD

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 20 . 57562839 100293.94 G C PASS 1/1 49 SYNONYMOUS_CODING LOW 0.11 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57562778 24347.75 A G PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 57561898 8723.81 G C PASS 1/1 126 SYNONYMOUS_CODING LOW None None None None None None None

NINL

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 20 . 25498422 16195.47 A G PASS 0/1 17 SYNONYMOUS_CODING LOW None None None None None None None

NOP56

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 20 . 2637448 107358.95 G A PASS 1/1 32 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2635910 81458.95 T C PASS 1/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2636033 79607.89 C G PASS 1/1 72 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2636130 7639.42 T G PASS 0/1 24 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 2637494 125786.95 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

PCMTD2

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 20 . 62896954 18978.06 A G PASS 0/1 99 None None None -1.08 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62896919 13012.9 C T PASS 0/1 128 None None None 0.00 -0.46 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62896722 76267.0 T C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

PREX1

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 20 . 47262445 47202.61 T C PASS 0/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None

PRPF6

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 20 . 62642642 208.82 A G PASS 1/1 3 SYNONYMOUS_CODING LOW None None None None None None None

PTK6

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 20 . 62163917 305.87 C T PASS 0/1 11 SYNONYMOUS_CODING LOW None None None None None None None

PTPRT

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 20 . 40980786 1354.83 C T PASS 0/1 30 SYNONYMOUS_CODING LOW None None None None None None None

PYGB

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 20 . 25269098 684.63 A G PASS 0/1 117 SYNONYMOUS_CODING LOW None None None None None None None

RALGAPB

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 20 . 37199439 7787.49 A G PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.04 None None None None None None None

RBL1

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 20 . 35627312 7700.4 C CA PASS 0/1 56 FRAME_SHIFT HIGH None None None None None None None

RTEL1-TNFRSF6B

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 20 . 62327158 14899.25 G A PASS 1/1 17 SYNONYMOUS_CODING LOW None None None None None None None

SIGLEC1

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 20 . 3670850 380.34 C A PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 3670825 711.81 T A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

SNTA1

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 20 . 32031239 2696.74 T TGAC PASS 0/1 147 CODON_INSERTION MODERATE None None None None None None None

SOGA1

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 20 . 35467628 21466.2 AG A PASS 0/1 21 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 35491374 2307.19 G A PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.97 None None None None None None None

SPEF1

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 20 . 3759973 92578.74 GCA G PASS 1/1 72 FRAME_SHIFT HIGH None None None None None None None

SPTLC3

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 20 . 13090864 7095.09 C G PASS 0/1 10 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None

SYCP2

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 20 . 58470611 9333.0 T C PASS 1/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.02 None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 20 . 419864 2082.11 AC... A,* PASS 0/1 36 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 419862 2082.11 TG T,* PASS 0/1 36 FRAME_SHIFT HIGH None None None None None None None

TMEM239

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 20 . 2797429 6092.66 T C PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

TNFRSF6B

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 20 rs763416012
dbSNP
62328363 3584.51 C T PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 62329797 38166.2 T C PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.36 1.46 None None None None None None None

TRMT6

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 20 . 5924826 6898.74 G T PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5923202 156678.65 C G PASS 1/1 82 SYNONYMOUS_CODING LOW -1.44 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5923394 37679.67 G A PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 -1.76 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5923248 191052.65 A G PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 5922677 65888.75 G A PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE -2.19 None None None None None None None

ZBTB46

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 20 . 62407062 509.55 G C PASS 0/1 45 SYNONYMOUS_CODING LOW 0.76 None None None None None None None

ZCCHC3

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 20 . 279328 28861.49 G C PASS 1/1 142 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 278561 2423.31 G A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86 0.00 None None None None None None None

ZNF343

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 20 . 2464098 2857.58 C T PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
Omim - GeneCards - NCBI
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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 20 . 63741353 39381.09 G A PASS 1/1 25 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63738996 3468.44 T C PASS 1/1 25 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63738542 15792.85 A G PASS 1/1 52 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63737947 9312.49 C G PASS 1/1 80 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63737808 270.91 C G PASS 0/1 13 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63736025 27128.22 A G PASS 1/1 123 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63733533 427356.2 T A PASS 1/1 120 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63708763 120188.2 C G PASS 1/1 113 MODIFIER 1.28 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63707707 428.58 C G PASS 1/1 12 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63706270 103661.27 A G PASS 1/1 6 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63701286 22736.13 A AC PASS 1/1 92 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63701185 2058.39 C T PASS 0/1 72 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63701084 6623.52 A G PASS 1/1 13 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63697746 953.88 G A PASS 0/1 6 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63697022 30696.73 A G PASS 1/1 123 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63696229 3800.82 G A PASS 1/1 91 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63695846 680.42 A G PASS 0/1 23 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63695226 6665.39 G T PASS 0/1 109 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63694757 36972.93 A C PASS 1/1 72 MODIFIER -0.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63692936 39801.92 C T PASS 0/1 94 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63691653 56327.05 G C PASS 0/1 63 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63690935 4345.37 T C PASS 0/1 52 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63690302 50079.04 G A PASS 0/1 148 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63689615 44857.03 T C PASS 0/1 81 MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 20 . 63688889 5178.92 G A PASS 0/1 19 MODIFIER None None None None None None None