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

AIRE, CBS, COL18A1, COL6A1, COL6A2, FTCD, IFNAR2, ITGB2, KCNE1, KCNJ6, LIPI, LSS, PCNT, PFKL, RIPK4, RSPH1, SIK1, SON, SYNJ1, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, 240300 (3)
CBS Homocystinuria, B6-responsive and nonresponsive types, 236200 (3)
Thrombosis, hyperhomocysteinemic, 236200 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL6A2 ?Myosclerosis, congenital, 255600 (3)
Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
FTCD Glutamate formiminotransferase deficiency, 229100 (3)
IFNAR2 ?Immunodeficiency 45, 616669 (3)
{Hepatitis B virus, susceptibility to}, 610424 (3)
ITGB2 Leukocyte adhesion deficiency, 116920 (3)
KCNE1 Jervell and Lange-Nielsen syndrome 2, 612347 (3)
Long QT syndrome 5, 613695 (3)
KCNJ6 Keppen-Lubinsky syndrome, 614098 (3)
LIPI {Hypertriglyceridemia, susceptibility to}, 145750 (3)
LSS Cataract 44, 616509 (3)
PCNT Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
PFKL Hemolytic anemia due to phosphofructokinase deficiency (1)
RIPK4 Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3)
RSPH1 Ciliary dyskinesia, primary, 24, 615481 (3)
SIK1 Epileptic encephalopathy, early infantile, 30, 616341 (3)
SON Tokita-Kim syndrome, 617140 (3)
SYNJ1 Parkinson disease 20, early-onset, 615530 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)

Genes at Clinical Genomics Database

AIRE, CBS, COL18A1, COL6A1, COL6A2, FTCD, IFNAR2, IL10RB, ITGB2, KCNE1, KCNJ6, LIPI, LSS, NRIP1, PCNT, RIPK4, RSPH1, SIK1, TMPRSS15, TMPRSS3,
AIRE Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
CBS Homocystinuria due to cystathionine beta-synthase deficiency
COL18A1 Knobloch syndrome 1
COL6A1 Bethlem myopathy 1
Ullrich congenital muscular dystrophy 1
COL6A2 Epilepsy, progressive myoclonic, autosomal recessive
Bethlem myopathy 1
Myosclerosis, congenital
Ullrich congenital muscular dystrophy 1
FTCD Glutamate formiminotransferase deficiency
IFNAR2 Immunodeficiency 45
IL10RB Inflammatory bowel disease 25, early onset, autosomal recessive
ITGB2 Leukocyte adhesion deficiency, type I
KCNE1 Jervell and Lange-Nielsen syndrome 2
Long QT syndrome 5
KCNJ6 Keppen-Lubinsky syndrome
LIPI Hypertriglyceridemia, familial
LSS Cataract 44
NRIP1 Schizophrenia
PCNT Microcephalic osteodysplastic primordial dwarfism, type II
RIPK4 Bartsocas-Papas syndrome
Popliteal pterygium syndrome, lethal type
RSPH1 Ciliary dyskinesia, primary, 24
SIK1 Epileptic encephalopathy, early infantile 30
TMPRSS15 Enterokinase deficiency
TMPRSS3 Deafness, autosomal recessive 8
Deafness, autosomal recessive 10

Genes at HGMD

Summary

Number of Variants: 2065
Number of Genes: 133

Export to: CSV

ICOSLG

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 mm170241ct 21 rs7278772
dbSNP
45649494 197.77 A G . 0/1 19 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 21 rs4818891
dbSNP
45649543 52.77 G C . 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.01 None None None None None None None
View mm170241ct 21 rs4568033
dbSNP
45649778 476.77 A G . 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70687 0.70690 0.00 None None None None None None None
View mm170241ct 21 rs117082851
dbSNP
45649714 471.77 C T . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00459 0.00459 0.00 None None None None None None None
View mm170241ct 21 rs13052840
dbSNP
45649848 871.77 T C . 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.62280 0.62280 None None None None None None None
View mm170241ct 21 rs4511811
dbSNP
45649666 360.77 G A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26717 0.26720 0.01 0.86 None None None None None None None

IFNAR1

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 mm170241ct 21 rs2257167
dbSNP
34715699 4909.77 G C . 0/1 339 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22883 0.22880 0.14301 0.17 0.37 None None None None None None None

IFNAR2

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 mm170241ct 21 rs117810077
dbSNP
34635349 923.77 C T . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.00639 0.00639 0.00023 None None None None None None None

IGHV1OR21-1

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 mm170241ct 21 rs3916645
dbSNP
10862846 5463.77 A T . 1/1 153 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87320 0.87320 0.06054 1.00 0.00 None None None None None None None
View mm170241ct 21 rs1961808
dbSNP
10862853 2327.77 G A . 0/1 156 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39015 0.18 0.00 None None None None None None None
View mm170241ct 21 rs1807747
dbSNP
10862874 3667.77 A G . 0/1 183 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None
View mm170241ct 21 rs3883944
dbSNP
10862947 5643.77 G A . 0/1 248 SYNONYMOUS_CODING LOW SILENT None None None None None None None

IGSF5

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 mm170241ct 21 rs2205204
dbSNP
41137507 1730.77 G C . 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65955 0.65950 0.35499 1.00 0.00 None None None None None None None
View mm170241ct 21 rs764698988
dbSNP
41151214 131.77 T C . 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.05 None None None None None None None

IL10RB

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 mm170241ct 21 rs2834167
dbSNP
34640788 754.77 A G . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33946 0.33950 0.21452 0.05 0.08 None None None None None None None

ITGB2

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 mm170241ct 21 rs235330
dbSNP
46314907 1202.77 T A . 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00015 0.03 0.01 None None None None None None None
View mm170241ct 21 rs235326
dbSNP
46311813 1109.77 A G . 1/1 34 SYNONYMOUS_CODING LOW SILENT 0.76298 0.76300 0.24985 None None None None None None None

ITSN1

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 mm170241ct 21 rs9976801
dbSNP
35237608 207.77 T C . 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.83167 0.83170 0.23758 None None None None None None None
View mm170241ct 21 . 35191587 1006.77 A G . 0/1 71 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 21 rs2073370
dbSNP
35260481 462.77 T C . 0/1 32 SYNONYMOUS_CODING LOW SILENT 0.57568 0.57570 0.44887 None None None None None None None
View mm170241ct 21 rs2834286
dbSNP
35260544 453.77 C T . 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.02356 0.02356 0.01753 None None None None None None None

KCNE1

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 mm170241ct 21 rs1805127
dbSNP
35821821 2519.77 T C . 1/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67392 0.67390 0.33808 0.44 0.00 None None None None None None None

KCNJ15

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 mm170241ct 21 rs2230033
dbSNP
39671476 787.77 G A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28874 0.28870 0.40289 0.31 0.00 None None None None None None None

KCNJ6

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 mm170241ct 21 rs702859
dbSNP
38997701 1292.77 G A . 0/1 113 SYNONYMOUS_CODING LOW SILENT 0.77396 0.77400 0.27456 None None None None None None None
View mm170241ct 21 rs2070995
dbSNP
39086965 3915.77 T C . 1/1 114 SYNONYMOUS_CODING LOW SILENT 0.82328 0.82330 0.16199 None None None None None None None

KRTAP10-1

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 mm170241ct 21 rs233320
dbSNP
45959918 124.77 G A . 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60982 0.60980 0.31257 0.05 0.73 None None None None None None None
View mm170241ct 21 rs233316
dbSNP
45959195 133.77 G A . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62181 0.62180 0.30931 0.13 0.00 None None None None None None None
View mm170241ct 21 rs233317
dbSNP
45959312 400.77 C T . 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80851 0.80850 0.17392 0.02 0.00 None None None None None None None
View mm170241ct 21 rs233319
dbSNP
45959733 497.77 C T . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59465 0.59460 0.10 0.00 None None None None None None None
View mm170241ct 21 rs233318
dbSNP
45959386 216.77 G A . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.57448 0.57450 None None None None None None None
View mm170241ct 21 rs62218857
dbSNP
45959557 423.77 A T . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60204 0.60200 0.10372 0.43 0.00 None None None None None None None
View mm170241ct 21 rs62218858
dbSNP
45959558 450.77 T G . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60204 0.60200 0.11410 1.00 0.00 None None None None None None None
View mm170241ct 21 rs62218859
dbSNP
45959559 380.77 C A . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60204 0.60200 0.32400 0.05 0.00 None None None None None None None

KRTAP10-10

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 mm170241ct 21 rs4818950
dbSNP
46057806 720.77 G A . 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60344 0.60340 0.40058 0.07 0.99 None None None None None None None
View mm170241ct 21 rs4818947
dbSNP
46057548 486.77 A C . 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77836 0.77840 0.23235 1.00 0.01 None None None None None None None
View mm170241ct 21 rs66931310,rs56249559
dbSNP
46057612 1636.73 CC... C . 0/1 37 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.49780 0.49780 0.44800 None None None None None None None
View mm170241ct 21 rs4818948
dbSNP
46057711 1075.77 G C . 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27516 0.27520 0.31824 0.03 0.00 None None None None None None None
View mm170241ct 21 rs4818949
dbSNP
46057720 915.77 A C . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27855 0.27860 0.31801 0.23 0.15 None None None None None None None
View mm170241ct 21 rs4818951
dbSNP
46057958 171.77 C T . 0/1 12 SYNONYMOUS_CODING LOW SILENT 0.64018 0.64020 0.37813 None None None None None None None

KRTAP10-11

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 mm170241ct 21 rs462007
dbSNP
46067180 1715.77 C T . 1/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81609 0.81610 0.15841 0.03 0.90 None None None None None None None
View mm170241ct 21 rs4818952
dbSNP
46066764 843.77 C T . 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77736 0.77740 0.22889 0.02 0.00 None None None None None None None

KRTAP10-12

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 mm170241ct 21 rs34302939
dbSNP
46117792 230.77 G A . 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30751 0.30750 0.26393 0.04 0.00 None None None None None None None

KRTAP10-2

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 mm170241ct 21 rs199922020,rs76415521
dbSNP
45971162 38.77 C T . 0/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 21 rs233238
dbSNP
45970718 640.77 C T . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.26578 0.26580 0.24304 None None None None None None None
View mm170241ct 21 rs77233671,rs200984587
dbSNP
45971109 33.77 G A . 0/1 32 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13 0.00 None None None None None None None
View mm170241ct 21 rs233240
dbSNP
45971299 145.77 T C . 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21665 0.21670 0.18861 1.00 0.01 None None None None None None None
View mm170241ct 21 rs2329834
dbSNP
45970812 506.77 G A . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54752 0.54750 0.41758 0.34 0.00 None None None None None None None
View mm170241ct 21 rs782564487
dbSNP
45971081 31.77 C T . 0/1 35 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 21 rs478967
dbSNP
45971023 434.77 G T . 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22744 0.22740 0.20563 0.05 0.00 None None None None None None None
View mm170241ct 21 rs233239
dbSNP
45970993 644.77 C G . 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22784 0.22780 0.20698 0.42 0.00 None None None None None None None
View mm170241ct 21 rs478947
dbSNP
45971018 494.77 C G . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.22764 0.22760 0.20609 None None None None None None None

KRTAP10-3

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 mm170241ct 21 rs12483390
dbSNP
45978488 76.77 G A . 0/1 5 SYNONYMOUS_CODING LOW SILENT 0.25300 0.25300 0.34882 None None None None None None None
View mm170241ct 21 rs452472
dbSNP
45978592 97.77 T C . 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21306 0.21310 0.27449 1.00 0.00 None None None None None None None
View mm170241ct 21 rs448908
dbSNP
45978587 106.77 A G . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.20947 0.20950 0.26734 None None None None None None None
View mm170241ct 21 rs435424,rs74630528
dbSNP
45978503 157.9 G A . 1/1 6 SYNONYMOUS_CODING LOW SILENT 0.86801 0.86800 0.07163 None None None None None None None
View mm170241ct 21 rs377549
dbSNP
45978499 165.9 T G . 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86921 0.86920 0.07059 1.00 0.00 None None None None None None None
View mm170241ct 21 rs233252
dbSNP
45978090 751.77 C T . 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86901 0.86900 0.06981 0.01 1.00 None None None None None None None

KRTAP10-4

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 mm170241ct 21 rs233285,rs75104289
dbSNP
45993819 38.77 C T . 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47784 0.47780 1.00 0.01 None None None None None None None

KRTAP10-6

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 mm170241ct 21 rs465279
dbSNP
46011468 346.77 G A . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50200 0.50200 0.43746 0.01 1.00 None None None None None None None
View mm170241ct 21 rs543542
dbSNP
46012240 81.77 A G . 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 21 rs201732843
dbSNP
46012181 20.8 C T LowQual 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38558 0.38560 0.00 0.00 None None None None None None None
View mm170241ct 21 rs62220887
dbSNP
46012160 17.84 G C LowQual 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.00 None None None None None None None

KRTAP10-7

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 mm170241ct 21 rs4818725
dbSNP
46020721 66.78 G A . 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68031 0.68030 0.00 0.85 None None None None None None None
View mm170241ct 21 rs370092
dbSNP
46021607 857.77 A G . 0/1 65 SYNONYMOUS_CODING LOW SILENT 0.77716 0.77720 0.17347 None None None None None None None
View mm170241ct 21 rs369720
dbSNP
46021494 423.77 A G . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77875 0.77880 0.18622 1.00 0.00 None None None None None None None
View mm170241ct 21 rs437334
dbSNP
46021481 646.77 T C . 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.77796 0.77800 0.20103 None None None None None None None
View mm170241ct 21 rs446817
dbSNP
46021390 595.77 G C . 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77776 0.77780 0.17523 0.35 0.00 None None None None None None None
View mm170241ct 21 rs437149
dbSNP
46021370 663.77 T C . 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.77776 0.77780 0.17492 None None None None None None None
View mm170241ct 21 rs389167
dbSNP
46021205 780.77 C T . 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.77656 0.77660 0.17846 None None None None None None None
View mm170241ct 21 rs363877
dbSNP
46021179 556.77 C A . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77456 0.77460 0.05 0.00 None None None None None None None
View mm170241ct 21 rs388827
dbSNP
46021088 139.77 C T . 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 21 rs1211104
dbSNP
46020742 24.78 C G LowQual 0/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01258 0.01258 0.04 0.01 None None None None None None None
View mm170241ct 21 rs7410162,rs75792029
dbSNP
46020720 52.8 C T . 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68570 0.68570 1.00 0.00 None None None None None None None
View mm170241ct 21 rs1211103
dbSNP
46020527 576.77 C T . 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.78794 0.78790 0.16114 None None None None None None None

KRTAP10-8

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 mm170241ct 21 rs411254
dbSNP
46032094 325.77 A G . 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90116 0.90120 0.05851 0.15 0.00 None None None None None None None

KRTAP10-9

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 mm170241ct 21 rs8131142
dbSNP
46047710 778.77 T C . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.64816 0.64820 0.36137 None None None None None None None
View mm170241ct 21 rs8126553
dbSNP
46047418 608.77 C T . 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.78714 0.78710 0.22062 None None None None None None None
View mm170241ct 21 rs9980129
dbSNP
46047857 785.77 C T . 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62660 0.62660 0.37596 1.00 0.00 None None None None None None None
View mm170241ct 21 rs9979457
dbSNP
46047925 695.77 G T . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.63279 0.63280 0.36872 None None None None None None None
View mm170241ct 21 rs8127342
dbSNP
46047633 865.77 A G . 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63718 0.63720 0.37306 1.00 0.00 None None None None None None None

KRTAP11-1

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 mm170241ct 21 rs71321355
dbSNP
32253629 848.77 C T . 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14437 0.14440 0.17038 1.00 0.00 None None None None None None None

KRTAP12-1

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 mm170241ct 21 rs7283084
dbSNP
46102015 568.77 C T . 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.14677 0.14680 0.15854 None None None None None None None
View mm170241ct 21 rs9984476
dbSNP
46101939 1181.77 C T . 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12320 0.12320 0.13588 0.05 0.87 None None None None None None None

KRTAP12-2

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 mm170241ct 21 rs13046903
dbSNP
46086758 789.77 C T . 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77117 0.77120 0.25039 0.84 0.00 None None None None None None None
View mm170241ct 21 rs7275298
dbSNP
46086757 756.77 G A . 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77157 0.77160 0.24898 0.35 0.00 None None None None None None None
View mm170241ct 21 rs12483730
dbSNP
46086457 850.77 G A . 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14437 0.14440 0.16591 0.75 0.12 None None None None None None None
View mm170241ct 21 rs12481809
dbSNP
46086407 641.77 C T . 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14597 0.14600 0.16706 0.01 0.12 None None None None None None None

KRTAP12-3

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 mm170241ct 21 rs9306111
dbSNP
46077946 581.77 A G . 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78954 0.78950 0.22740 0.01 0.00 None None None None None None None

KRTAP12-4

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 mm170241ct 21 rs9984726
dbSNP
46074202 293.77 A G . 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.78514 0.78510 0.22890 None None None None None None None

KRTAP13-1

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 mm170241ct 21 rs9636833
dbSNP
31768539 749.77 G C . 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.18630 0.18630 0.12264 None None None None None None None

KRTAP13-2

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 mm170241ct 21 rs877346
dbSNP
31744127 1006.77 A T . 0/1 67 STOP_GAINED HIGH NONSENSE 0.31809 0.31810 0.39397 None None None None None None None

KRTAP19-6

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 mm170241ct 21 rs1023364
dbSNP
31914000 2365.77 T A . 0/1 180 SYNONYMOUS_CODING LOW SILENT 0.74780 0.74780 0.26565 None None None None None None None
View mm170241ct 21 rs5843453
dbSNP
31913981 3220.76 AG A . 0/1 167 FRAME_SHIFT HIGH 0.78714 0.78710 None None None None None None None

KRTAP22-1

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 mm170241ct 21 rs198915
dbSNP
31973516 600.77 T A . 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83986 0.83990 0.11003 0.00 None None None None None None None

KRTAP24-1

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 mm170241ct 21 rs1557291
dbSNP
31655212 874.77 A C . 1/1 27 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None

KRTAP27-1

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 mm170241ct 21 rs2244485
dbSNP
31709691 629.77 G A . 0/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32129 0.32130 0.39620 0.22 0.17 None None None None None None None

LIPI

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 mm170241ct 21 rs7283442
dbSNP
15516976 3597.77 T A . 1/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.20 0.00 None None None None None None None

LSS

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 mm170241ct 21 rs9980968
dbSNP
47635627 316.77 C G . 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.36102 0.36100 0.40997 None None None None None None None
View mm170241ct 21 rs2254524
dbSNP
47614469 163.77 A C . 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73223 0.73220 0.25827 1.00 0.00 None None None None None None None
View mm170241ct 21 rs2968
dbSNP
47608580 1451.77 G A . 0/1 123 None None None 0.57808 0.57810 None None None None None None None