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

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CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AR, ATXN2, COL18A1, CTSA, FMN2, GPX1, HTT, IRF2BPL, IRF5, IRS1, KIF1A, MEF2A, MESP2, ORAI1, PRG4, SMARCA2, SMPD1, SYT14, TBP, TNRC6A,
AR Androgen insensitivity, 300068 (3)
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Hypospadias 1, X-linked, 300633 (3)
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
CTSA Galactosialidosis, 256540 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
IRF5 {Inflammatory bowel disease 14}, 612245 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
IRS1 {Coronary artery disease, susceptibility to} (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
SYT14 ?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TNRC6A ?Epilepsy, familial adult myoclonic, 6, 618074 (3)

Genes at Clinical Genomics Database

AR, ATXN2, COL18A1, CTSA, FMN2, HTT, KIF1A, MESP2, ORAI1, PRG4, SMARCA2, SMPD1, SYT14, TBP,
AR Androgen insensitivity
Androgen insensitivity, partial
ATXN2 Spinocerebellar ataxia 2
COL18A1 Knobloch syndrome 1
CTSA Galactosialidosis
FMN2 Mental retardation, autosomal recessive, 47
HTT Huntington disease
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
MESP2 Spondylocostal dysostosis 2, autosomal recessive
ORAI1 Immunodeficiency 9
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
SMARCA2 Nicolaides-Baraitser syndrome
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B
SYT14 Spinocerebellar ataxia, autosomal recessive 11
TBP Spinocerebellar ataxia 17

Genes at HGMD

Summary

Number of Variants: 234
Number of Genes: 30

Export to: CSV

APOBEC3H

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 15ac02303_s1 genome 22 . 39496325 177.47 C . PASS 0 67 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 . 39496324 174.47 A . PASS 0 67 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 . 39496323 177.47 A . PASS 0 67 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02303_s1 genome 22 rs140936762,rs201177427,rs139292
dbSNP Clinvar
39496322 2327.47 TAAC T PASS 0/1 114 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%

AR

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 15ac02303_s1 genome X rs778920072
dbSNP Clinvar
66765158 1910.07 TGCA T PASS 1/1 101 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 15ac02303_s1 genome X . 66765159 0.0 G . LowGQX . 60 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 15ac02303_s1 genome X . 66765160 0.0 C . LowGQX . 61 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%

ATXN2

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 15ac02303_s1 genome 12 rs10560189,rs67658094
dbSNP Clinvar
112036753 607.57 GGCT G PASS 1/1 15 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 rs772718667
dbSNP Clinvar
112036776 408.7 CT... C PASS 0/1 18 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036755 0.0 C . LowGQX . 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036754 0.0 G . LowGQX . 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036780 51.06 T . LowGQX 0 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036779 25.54 C . LowGQX 0 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036778 57.08 G . LowGQX 0 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036777 51.06 T . LowGQX 0 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036756 0.0 T . LowGQX . 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036782 48.05 T . LowGQX 0 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN2|0.872313714|4.16%
View 15ac02303_s1 genome 12 . 112036781 57.08 G . LowGQX 0 13 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN2|0.872313714|4.16%

CD3EAP

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 15ac02303_s1 genome 19 . 45912492 288.8 G . PASS 0 107 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15ac02303_s1 genome 19 . 45912491 300.87 A . PASS 0 107 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15ac02303_s1 genome 19 . 45912490 303.86 A . PASS 0 108 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15ac02303_s1 genome 19 rs35729377,rs374686338
dbSNP Clinvar
45912489 3992.56 CAAG C PASS 0/1 196 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%

CEP68

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 15ac02303_s1 genome 2 rs147392467
dbSNP Clinvar
65298646 7083.55 GAAC G PASS 0/1 282 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07408 0.07408 0.11110 None None None None None None CEP68|0.00693315|83.58%,RAB1A|0.906392493|3.32%
View 15ac02303_s1 genome 2 . 65298647 361.04 A . PASS 0 142 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07408 0.07408 0.11110 None None None None None None CEP68|0.00693315|83.58%,RAB1A|0.906392493|3.32%
View 15ac02303_s1 genome 2 . 65298648 376.1 A . PASS 0 142 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07408 0.07408 0.11110 None None None None None None CEP68|0.00693315|83.58%,RAB1A|0.906392493|3.32%
View 15ac02303_s1 genome 2 . 65298649 388.14 C . PASS 0 145 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07408 0.07408 0.11110 None None None None None None CEP68|0.00693315|83.58%,RAB1A|0.906392493|3.32%

COL18A1

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 15ac02303_s1 genome 21 . 46924430 0.0 C . LowGQX . 109 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02303_s1 genome 21 . 46924429 0.0 C . LowGQX . 109 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02303_s1 genome 21 . 46924427 0.0 G . LowGQX . 107 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02303_s1 genome 21 . 46924428 0.0 C . LowGQX . 109 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02303_s1 genome 21 . 46924433 0.0 C . LowGQX . 104 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02303_s1 genome 21 . 46924432 0.0 C . LowGQX . 104 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02303_s1 genome 21 . 46924431 0.0 C . LowGQX . 105 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02303_s1 genome 21 . 46924426 0.0 G . LowGQX . 108 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02303_s1 genome 21 rs149296338,rs78227997
dbSNP Clinvar
46924425 22997.78 CG... C PASS 1/1 292 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

CTSA

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 15ac02303_s1 genome 20 . 44520238 0.0 C . LowGQX . 3 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.64940 None None None None None None CTSA|0.152533286|42.59%
View 15ac02303_s1 genome 20 . 44520239 0.0 T . LowGQX . 3 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.64940 None None None None None None CTSA|0.152533286|42.59%
View 15ac02303_s1 genome 20 . 44520240 0.0 G . LowGQX . 3 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.64940 None None None None None None CTSA|0.152533286|42.59%
View 15ac02303_s1 genome 20 rs397784956
dbSNP Clinvar
44520237 2055.97 CCTG C PASS 1/1 45 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00140 0.64940 None None None None None None CTSA|0.152533286|42.59%

FMN2

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 15ac02303_s1 genome 1 . 240255569 0.0 G . LowGQX . 18 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.70667 0.70670 None None None None None None FMN2|0.565952775|13.15%
View 15ac02303_s1 genome 1 rs140531536,rs71929261
dbSNP Clinvar
240255568 2731.95 GGGC G PASS 1/1 71 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.70667 0.70670 None None None None None None FMN2|0.565952775|13.15%
View 15ac02303_s1 genome 1 . 240255570 0.0 G . LowGQX . 18 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.70667 0.70670 None None None None None None FMN2|0.565952775|13.15%

GPX1

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 15ac02303_s1 genome 3 rs139760138,rs762505490,rs71077799
dbSNP Clinvar
49395673 3584.3 GGCC G PASS 0/1 150 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76378 0.76380 None None None None None None GPX1|0.756845833|6.93%
View 15ac02303_s1 genome 3 . 49395676 192.5 C . PASS 0 74 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76378 0.76380 None None None None None None GPX1|0.756845833|6.93%
View 15ac02303_s1 genome 3 . 49395675 198.53 C . PASS 0 74 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76378 0.76380 None None None None None None GPX1|0.756845833|6.93%
View 15ac02303_s1 genome 3 . 49395674 198.52 G . PASS 0 74 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76378 0.76380 None None None None None None GPX1|0.756845833|6.93%

HAVCR1

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 15ac02303_s1 genome 5 . 156479445 90.17 T . PASS 0 26 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.24381 0.24380 0.24190 None None None None None None HAVCR1|0.00064813|97.55%
View 15ac02303_s1 genome 5 . 156479446 93.18 G . PASS 0 26 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.24381 0.24380 0.24190 None None None None None None HAVCR1|0.00064813|97.55%
View 15ac02303_s1 genome 5 rs45439103,rs398065342
dbSNP Clinvar
156479443 578.74 CTTG C PASS 0/1 39 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.24381 0.24380 0.24190 None None None None None None HAVCR1|0.00064813|97.55%
View 15ac02303_s1 genome 5 . 156479444 84.16 T . PASS 0 26 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.24381 0.24380 0.24190 None None None None None None HAVCR1|0.00064813|97.55%

HTT

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 15ac02303_s1 genome 4 . 3076613 0.0 C . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076606 0.0 G . LowGQX . 12 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076607 0.0 C . LowGQX . 18 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 rs778928198
dbSNP Clinvar
3076603 2422.34 CC... CC... PASS 1/2 37 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076604 0.0 C . LowGQX . 12 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076605 0.0 A . LowGQX . 12 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076608 0.0 A . LowGQX . 18 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076609 0.0 G . LowGQX . 18 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076610 0.0 C . LowGQX . 28 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076611 0.0 A . LowGQX . 28 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%
View 15ac02303_s1 genome 4 . 3076612 0.0 G . LowGQX . 28 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None HTT|0.732159891|7.59%

IRF2BPL

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 15ac02303_s1 genome 14 . 77493765 0.0 T . LowGQX . 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.93011 0.93010 None None None None None None IRF2BPL|0.111861784|48.88%
View 15ac02303_s1 genome 14 . 77493767 0.0 C . LowGQX . 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.93011 0.93010 None None None None None None IRF2BPL|0.111861784|48.88%
View 15ac02303_s1 genome 14 . 77493766 0.0 G . LowGQX . 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.93011 0.93010 None None None None None None IRF2BPL|0.111861784|48.88%
View 15ac02303_s1 genome 14 rs200317113
dbSNP Clinvar
77493761 480.74 TT... T LowGQ;LowGQX 1/1 11 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.93011 0.93010 None None None None None None IRF2BPL|0.111861784|48.88%
View 15ac02303_s1 genome 14 . 77493762 0.0 T . LowGQX . 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.93011 0.93010 None None None None None None IRF2BPL|0.111861784|48.88%
View 15ac02303_s1 genome 14 . 77493763 0.0 G . LowGQX . 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.93011 0.93010 None None None None None None IRF2BPL|0.111861784|48.88%
View 15ac02303_s1 genome 14 . 77493764 0.0 C . LowGQX . 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.93011 0.93010 None None None None None None IRF2BPL|0.111861784|48.88%

IRF5

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 15ac02303_s1 genome 7 rs199508964,rs60344245
dbSNP Clinvar
128587351 32184.58 CA... C PASS 0/1 430 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587360 704.12 G . PASS 0 283 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587361 707.1 C . PASS 0 282 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587362 676.97 C . PASS 0 277 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587364 683.02 C . PASS 0 276 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587365 680.01 C . PASS 0 279 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587366 698.04 C . PASS 0 278 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587367 616.78 A . PASS 0 278 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587368 722.17 C . PASS 0 286 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587369 698.1 T . PASS 0 283 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587370 677.04 C . PASS 0 281 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587371 674.05 T . PASS 0 275 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587372 680.03 G . PASS 0 276 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587373 646.74 C . PASS 0 276 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587374 664.96 G . PASS 0 275 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587375 674.02 G . PASS 0 272 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587376 701.08 C . PASS 0 273 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587377 689.0 C . PASS 0 272 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587378 692.09 G . PASS 0 272 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587379 677.01 C . PASS 0 273 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587380 680.05 C . PASS 0 275 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587381 683.1 T . PASS 0 274 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587363 677.03 G . PASS 0 277 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587352 613.81 A . PASS 0 277 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587353 701.12 C . PASS 0 280 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587354 716.2 T . PASS 0 280 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587355 719.17 C . PASS 0 279 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587356 713.18 T . PASS 0 279 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587357 704.14 G . PASS 0 280 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587358 707.06 C . PASS 0 287 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%
View 15ac02303_s1 genome 7 . 128587359 649.93 A . PASS 0 286 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.48482 0.48480 0.49086 None None None None None None IRF5|0.298868906|27.71%

IRS1

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 15ac02303_s1 genome 2 . 227661396 255.72 T . PASS 0 98 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.01398 0.01398 None None None None None None IRS1|0.981284842|1.43%