2-179399830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399830
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399830
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-629C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11467C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-629C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93808G>A
  hgvsp: ENSP00000343764.6:p.Glu31270Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11467C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-629C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74692G>A
  hgvsp: ENSP00000352154.5:p.Glu24898Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-629C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74317G>A
  hgvsp: ENSP00000434586.1:p.Glu24773Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101512G>A
  hgvsp: ENSP00000467141.1:p.Glu33838Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11467C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74893G>A
  hgvsp: ENSP00000340554.6:p.Glu24965Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6290C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-629C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6290C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2501C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-629C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96589G>A
  hgvsp: ENSP00000465570.1:p.Glu32197Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11467C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-629C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu33838Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

2-179399834-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399834
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399834
    reference: chr 2
allele count: 1
allele frequency: 8.282945415389712e-6
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74889T>C
  hgvsp: ENST00000342175.6:c.74889T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74313T>C
  hgvsp: ENST00000460472.2:c.74313T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74688T>C
  hgvsp: ENST00000359218.5:c.74688T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11471A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96585T>C
  hgvsp: ENST00000591111.1:c.96585T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11471A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101508T>C
  hgvsp: ENST00000589042.1:c.101508T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93804T>C
  hgvsp: ENST00000342992.6:c.93804T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11471A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6294A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-625A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7115A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys33836Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-179399836-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399836
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399836
    reference: chr 2
allele count: 16
allele frequency: 1.325293221125174e-4
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2495A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74686T>A
  hgvsp: ENSP00000352154.5:p.Cys24896Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11473A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6296A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11473A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-623A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93802T>A
  hgvsp: ENSP00000343764.6:p.Cys31268Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101506T>A
  hgvsp: ENSP00000467141.1:p.Cys33836Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-623A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6296A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2495A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74311T>A
  hgvsp: ENSP00000434586.1:p.Cys24771Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11473A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-623A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74887T>A
  hgvsp: ENSP00000340554.6:p.Cys24963Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-623A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-623A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-623A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-623A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-623A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96583T>A
  hgvsp: ENSP00000465570.1:p.Cys32195Ser
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys33836Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-179399837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399837
    reference: chr 2
allele count: 5
allele frequency: 4.141472707694856e-5
allele num: 120730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6297A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74310T>C
  hgvsp: ENST00000460472.2:c.74310T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74886T>C
  hgvsp: ENST00000342175.6:c.74886T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96582T>C
  hgvsp: ENST00000591111.1:c.96582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101505T>C
  hgvsp: ENST00000589042.1:c.101505T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11474A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11474A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6297A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11474A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7112A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-622A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93801T>C
  hgvsp: ENST00000342992.6:c.93801T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-622A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33835Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

2-179399838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399838
    reference: chr 2
allele count: 2
allele frequency: 1.656643970644269e-5
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6298C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74684G>A
  hgvsp: ENSP00000352154.5:p.Arg24895His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2493C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74309G>A
  hgvsp: ENSP00000434586.1:p.Arg24770His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93800G>A
  hgvsp: ENSP00000343764.6:p.Arg31267His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2493C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11475C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101504G>A
  hgvsp: ENSP00000467141.1:p.Arg33835His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6298C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11475C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-621C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96581G>A
  hgvsp: ENSP00000465570.1:p.Arg32194His
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33835His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-179399839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399839
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399839
    reference: chr 2
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11476G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96580C>T
  hgvsp: ENSP00000465570.1:p.Arg32194Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-620G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11476G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-620G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101503C>T
  hgvsp: ENSP00000467141.1:p.Arg33835Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-620G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74884C>T
  hgvsp: ENSP00000340554.6:p.Arg24962Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-620G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74308C>T
  hgvsp: ENSP00000434586.1:p.Arg24770Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-620G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2492G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6299G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6299G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6299G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93799C>T
  hgvsp: ENSP00000343764.6:p.Arg31267Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11476G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-620G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11476G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74683C>T
  hgvsp: ENSP00000352154.5:p.Arg24895Cys
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33835Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-179399842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399842
    reference: chr 2
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11479G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96577C>T
  hgvsp: ENSP00000465570.1:p.His32193Tyr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11479G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74305C>T
  hgvsp: ENSP00000434586.1:p.His24769Tyr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74881C>T
  hgvsp: ENSP00000340554.6:p.His24961Tyr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101500C>T
  hgvsp: ENSP00000467141.1:p.His33834Tyr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93796C>T
  hgvsp: ENSP00000343764.6:p.His31266Tyr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2489G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11479G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-617G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-617G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His33834Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-179399857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399857
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96562G>A
  hgvsp: ENSP00000465570.1:p.Glu32188Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11494C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93781G>A
  hgvsp: ENSP00000343764.6:p.Glu31261Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74290G>A
  hgvsp: ENSP00000434586.1:p.Glu24764Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11494C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6317C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101485G>A
  hgvsp: ENSP00000467141.1:p.Glu33829Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11494C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-602C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6317C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74866G>A
  hgvsp: ENSP00000340554.6:p.Glu24956Lys
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu33829Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

2-179399862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399862
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399862
    reference: chr 2
allele count: 23
allele frequency: 1.905203691125064e-4
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96557G>A
  hgvsp: ENSP00000465570.1:p.Arg32186His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93776G>A
  hgvsp: ENSP00000343764.6:p.Arg31259His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74861G>A
  hgvsp: ENSP00000340554.6:p.Arg24954His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74285G>A
  hgvsp: ENSP00000434586.1:p.Arg24762His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7087C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2469C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11499C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74660G>A
  hgvsp: ENSP00000352154.5:p.Arg24887His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2469C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-597C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101480G>A
  hgvsp: ENSP00000467141.1:p.Arg33827His
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33827His
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

2-179399863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399863
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399863
    reference: chr 2
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93775C>T
  hgvsp: ENSP00000343764.6:p.Arg31259Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74659C>T
  hgvsp: ENSP00000352154.5:p.Arg24887Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11500G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7086G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101479C>T
  hgvsp: ENSP00000467141.1:p.Arg33827Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6323G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74284C>T
  hgvsp: ENSP00000434586.1:p.Arg24762Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6323G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-596G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74860C>T
  hgvsp: ENSP00000340554.6:p.Arg24954Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96556C>T
  hgvsp: ENSP00000465570.1:p.Arg32186Cys
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33827Cys
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-179399873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399873
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399873
    reference: chr 2
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11510T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11510T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93765A>G
  hgvsp: ENST00000342992.6:c.93765A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74274A>G
  hgvsp: ENST00000460472.2:c.74274A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-586T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-586T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-586T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96546A>G
  hgvsp: ENST00000591111.1:c.96546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74649A>G
  hgvsp: ENST00000359218.5:c.74649A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7076T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-586T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101469A>G
  hgvsp: ENST00000589042.1:c.101469A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74850A>G
  hgvsp: ENST00000342175.6:c.74850A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-586T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-586T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-586T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11510T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2458T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-586T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6333T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu33823Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

2-179399875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399875
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399875
    reference: chr 2
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7074C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101467G>A
  hgvsp: ENSP00000467141.1:p.Glu33823Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74647G>A
  hgvsp: ENSP00000352154.5:p.Glu24883Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96544G>A
  hgvsp: ENSP00000465570.1:p.Glu32182Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2456C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6335C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11512C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74848G>A
  hgvsp: ENSP00000340554.6:p.Glu24950Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93763G>A
  hgvsp: ENSP00000343764.6:p.Glu31255Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-584C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-584C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu33823Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-179399877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399877
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399877
    reference: chr 2
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93761C>T
  hgvsp: ENSP00000343764.6:p.Ala31254Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6337G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11514G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74846C>T
  hgvsp: ENSP00000340554.6:p.Ala24949Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11514G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96542C>T
  hgvsp: ENSP00000465570.1:p.Ala32181Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2454G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74645C>T
  hgvsp: ENSP00000352154.5:p.Ala24882Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101465C>T
  hgvsp: ENSP00000467141.1:p.Ala33822Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11514G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-582G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-582G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala33822Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-179399893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399893
    reference: chr 2
allele count: 2
allele frequency: 1.656891009709381e-5
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74830G>A
  hgvsp: ENSP00000340554.6:p.Glu24944Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74254G>A
  hgvsp: ENSP00000434586.1:p.Glu24752Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11530C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74629G>A
  hgvsp: ENSP00000352154.5:p.Glu24877Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11530C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11530C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6353C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-566C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96526G>A
  hgvsp: ENSP00000465570.1:p.Glu32176Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101449G>A
  hgvsp: ENSP00000467141.1:p.Glu33817Lys
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu33817Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

2-179399897-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399897
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399897
    reference: chr 2
allele count: 2
allele frequency: 1.657028285472833e-5
allele num: 120698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11534G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6357G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74826C>G
  hgvsp: ENST00000342175.6:c.74826C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11534G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11534G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-562G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-562G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96522C>G
  hgvsp: ENST00000591111.1:c.96522C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-562G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6357G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74250C>G
  hgvsp: ENST00000460472.2:c.74250C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-562G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101445C>G
  hgvsp: ENST00000589042.1:c.101445C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-562G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-562G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93741C>G
  hgvsp: ENST00000342992.6:c.93741C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74625C>G
  hgvsp: ENST00000359218.5:c.74625C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-562G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7052G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-562G>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu33815Leu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-179399902-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399902
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399902
    reference: chr 2
allele count: 2
allele frequency: 1.65694591728526e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101440G>A
  hgvsp: ENSP00000467141.1:p.Glu33814Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2429C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11539C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93736G>A
  hgvsp: ENSP00000343764.6:p.Glu31246Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11539C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74821G>A
  hgvsp: ENSP00000340554.6:p.Glu24941Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74620G>A
  hgvsp: ENSP00000352154.5:p.Glu24874Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74245G>A
  hgvsp: ENSP00000434586.1:p.Glu24749Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96517G>A
  hgvsp: ENSP00000465570.1:p.Glu32173Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11539C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-557C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu33814Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

2-179399908-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399908
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399908
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7041T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74614A>G
  hgvsp: ENSP00000352154.5:p.Thr24872Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101434A>G
  hgvsp: ENSP00000467141.1:p.Thr33812Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2423T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11545T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93730A>G
  hgvsp: ENSP00000343764.6:p.Thr31244Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2423T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-551T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11545T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11545T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11545T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96511A>G
  hgvsp: ENSP00000465570.1:p.Thr32171Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74815A>G
  hgvsp: ENSP00000340554.6:p.Thr24939Ala
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33812Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-179399912-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399912
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399912
    reference: chr 2
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11549A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-547A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74235T>G
  hgvsp: ENST00000460472.2:c.74235T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-547A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6372A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96507T>G
  hgvsp: ENST00000591111.1:c.96507T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-547A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-547A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11549A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11549A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101430T>G
  hgvsp: ENST00000589042.1:c.101430T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-547A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-547A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-547A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11549A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74610T>G
  hgvsp: ENST00000359218.5:c.74610T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-547A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74811T>G
  hgvsp: ENST00000342175.6:c.74811T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93726T>G
  hgvsp: ENST00000342992.6:c.93726T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-547A>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser33810Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-179399927-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399927
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399927
    reference: chr 2
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93711T>G
  hgvsp: ENST00000342992.6:c.93711T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11564A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2404A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11564A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74796T>G
  hgvsp: ENST00000342175.6:c.74796T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11564A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74220T>G
  hgvsp: ENST00000460472.2:c.74220T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101415T>G
  hgvsp: ENST00000589042.1:c.101415T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74595T>G
  hgvsp: ENST00000359218.5:c.74595T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96492T>G
  hgvsp: ENST00000591111.1:c.96492T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-532A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11564A>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33805Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-179399936-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399936
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399936
    reference: chr 2
allele count: 514
allele frequency: 4.258068791835112e-3
allele num: 120712
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74787C>G
  hgvsp: ENST00000342175.6:c.74787C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101406C>G
  hgvsp: ENST00000589042.1:c.101406C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74586C>G
  hgvsp: ENST00000359218.5:c.74586C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96483C>G
  hgvsp: ENST00000591111.1:c.96483C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11573G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7013G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11573G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74211C>G
  hgvsp: ENST00000460472.2:c.74211C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-523G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93702C>G
  hgvsp: ENST00000342992.6:c.93702C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val33802Val
num of homozygotes: 8
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-179399943-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399943
    reference: chr 2
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11580C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74579G>A
  hgvsp: ENSP00000352154.5:p.Arg24860Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101399G>A
  hgvsp: ENSP00000467141.1:p.Arg33800Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74780G>A
  hgvsp: ENSP00000340554.6:p.Arg24927Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96476G>A
  hgvsp: ENSP00000465570.1:p.Arg32159Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6403C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-516C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11580C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74204G>A
  hgvsp: ENSP00000434586.1:p.Arg24735Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93695G>A
  hgvsp: ENSP00000343764.6:p.Arg31232Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6403C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33800Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-179399946-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399946
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399946
    reference: chr 2
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-513G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-513G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74576C>G
  hgvsp: ENSP00000352154.5:p.Thr24859Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-513G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-513G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11583G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-513G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101396C>G
  hgvsp: ENSP00000467141.1:p.Thr33799Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-513G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-513G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11583G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74777C>G
  hgvsp: ENSP00000340554.6:p.Thr24926Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2385G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-7003G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11583G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96473C>G
  hgvsp: ENSP00000465570.1:p.Thr32158Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6406G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-513G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74201C>G
  hgvsp: ENSP00000434586.1:p.Thr24734Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93692C>G
  hgvsp: ENSP00000343764.6:p.Thr31231Ser
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33799Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

2-179399947-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399947
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399947
    reference: chr 2
allele count: 2
allele frequency: 1.656726308813784e-5
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11584T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101395A>G
  hgvsp: ENSP00000467141.1:p.Thr33799Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11584T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74776A>G
  hgvsp: ENSP00000340554.6:p.Thr24926Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11584T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96472A>G
  hgvsp: ENSP00000465570.1:p.Thr32158Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11584T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2384T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74200A>G
  hgvsp: ENSP00000434586.1:p.Thr24734Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93691A>G
  hgvsp: ENSP00000343764.6:p.Thr31231Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-512T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74575A>G
  hgvsp: ENSP00000352154.5:p.Thr24859Ala
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33799Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

2-179399951-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399951
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399951
    reference: chr 2
allele count: 2
allele frequency: 1.656836105772417e-5
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74571T>C
  hgvsp: ENST00000359218.5:c.74571T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-508A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96468T>C
  hgvsp: ENST00000591111.1:c.96468T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-508A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11588A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74196T>C
  hgvsp: ENST00000460472.2:c.74196T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2380A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-508A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11588A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-508A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-508A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-508A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-508A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101391T>C
  hgvsp: ENST00000589042.1:c.101391T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11588A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93687T>C
  hgvsp: ENST00000342992.6:c.93687T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6411A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-508A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74772T>C
  hgvsp: ENST00000342175.6:c.74772T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-508A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp33797Asp
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-179399957-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399957
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399957
    reference: chr 2
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6417C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6992C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6417C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93681G>A
  hgvsp: ENST00000342992.6:c.93681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96462G>A
  hgvsp: ENST00000591111.1:c.96462G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11594C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101385G>A
  hgvsp: ENST00000589042.1:c.101385G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11594C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74565G>A
  hgvsp: ENST00000359218.5:c.74565G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74766G>A
  hgvsp: ENST00000342175.6:c.74766G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-502C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2374C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-502C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu33795Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-179399961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399961
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399961
    reference: chr 2
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2370T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74561A>G
  hgvsp: ENSP00000352154.5:p.Glu24854Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11598T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93677A>G
  hgvsp: ENSP00000343764.6:p.Glu31226Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74186A>G
  hgvsp: ENSP00000434586.1:p.Glu24729Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101381A>G
  hgvsp: ENSP00000467141.1:p.Glu33794Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74762A>G
  hgvsp: ENSP00000340554.6:p.Glu24921Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96458A>G
  hgvsp: ENSP00000465570.1:p.Glu32153Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-498T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6988T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2370T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-498T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu33794Gly
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS

2-179399964-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399964
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399964
    reference: chr 2
allele count: 14
allele frequency: 1.159708416169649e-4
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-495T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11601T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-495T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6424T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96455A>T
  hgvsp: ENSP00000465570.1:p.Asp32152Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-495T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93674A>T
  hgvsp: ENSP00000343764.6:p.Asp31225Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74759A>T
  hgvsp: ENSP00000340554.6:p.Asp24920Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74558A>T
  hgvsp: ENSP00000352154.5:p.Asp24853Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101378A>T
  hgvsp: ENSP00000467141.1:p.Asp33793Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6424T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11601T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6985T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11601T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-495T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-495T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-495T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74183A>T
  hgvsp: ENSP00000434586.1:p.Asp24728Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-495T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6424T>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp33793Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-179399966-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399966
    reference: chr 2
allele count: 64
allele frequency: 5.301699857516816e-4
allele num: 120716
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101376T>C
  hgvsp: ENST00000589042.1:c.101376T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96453T>C
  hgvsp: ENST00000591111.1:c.96453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74556T>C
  hgvsp: ENST00000359218.5:c.74556T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74181T>C
  hgvsp: ENST00000460472.2:c.74181T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11603A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6426A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11603A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2365A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11603A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11603A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-493A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-493A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr33792Tyr
num of homozygotes: 1
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-179399981-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399981
    reference: chr 2
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6968G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-478G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74166C>A
  hgvsp: ENST00000460472.2:c.74166C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-478G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74742C>A
  hgvsp: ENST00000342175.6:c.74742C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-478G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-478G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6441G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93657C>A
  hgvsp: ENST00000342992.6:c.93657C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-478G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11618G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11618G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2350G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-478G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96438C>A
  hgvsp: ENST00000591111.1:c.96438C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101361C>A
  hgvsp: ENST00000589042.1:c.101361C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-478G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74541C>A
  hgvsp: ENST00000359218.5:c.74541C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6441G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6441G>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33787Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-179399988-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399988
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399988
    reference: chr 2
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96431A>G
  hgvsp: ENSP00000465570.1:p.Asp32144Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6448T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11625T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101354A>G
  hgvsp: ENSP00000467141.1:p.Asp33785Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2343T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74159A>G
  hgvsp: ENSP00000434586.1:p.Asp24720Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11625T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93650A>G
  hgvsp: ENSP00000343764.6:p.Asp31217Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-471T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74735A>G
  hgvsp: ENSP00000340554.6:p.Asp24912Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11625T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2343T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp33785Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-179399997-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179399997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179399997
    reference: chr 2
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11634G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101345C>G
  hgvsp: ENSP00000467141.1:p.Thr33782Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-462G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74726C>G
  hgvsp: ENSP00000340554.6:p.Thr24909Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-462G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-462G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-462G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6952G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11634G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96422C>G
  hgvsp: ENSP00000465570.1:p.Thr32141Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6457G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11634G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74525C>G
  hgvsp: ENSP00000352154.5:p.Thr24842Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-462G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74150C>G
  hgvsp: ENSP00000434586.1:p.Thr24717Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2334G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-462G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93641C>G
  hgvsp: ENSP00000343764.6:p.Thr31214Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-462G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-462G>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33782Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

2-179400015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400015
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11652G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6475G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74708C>T
  hgvsp: ENSP00000340554.6:p.Pro24903Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96404C>T
  hgvsp: ENSP00000465570.1:p.Pro32135Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93623C>T
  hgvsp: ENSP00000343764.6:p.Pro31208Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6475G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11652G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11652G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74507C>T
  hgvsp: ENSP00000352154.5:p.Pro24836Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101327C>T
  hgvsp: ENSP00000467141.1:p.Pro33776Leu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6934G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-444G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74132C>T
  hgvsp: ENSP00000434586.1:p.Pro24711Leu
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro33776Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-179400016-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400016
    reference: chr 2
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74707C>G
  hgvsp: ENSP00000340554.6:p.Pro24903Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96403C>G
  hgvsp: ENSP00000465570.1:p.Pro32135Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6933G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11653G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6476G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6476G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101326C>G
  hgvsp: ENSP00000467141.1:p.Pro33776Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-443G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11653G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2315G>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro33776Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-179400025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400025
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-434G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6485G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2306G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-434G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101317C>T
  hgvsp: ENSP00000467141.1:p.Pro33773Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6924G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2306G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11662G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74497C>T
  hgvsp: ENSP00000352154.5:p.Pro24833Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-434G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74698C>T
  hgvsp: ENSP00000340554.6:p.Pro24900Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-434G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6485G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6485G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96394C>T
  hgvsp: ENSP00000465570.1:p.Pro32132Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-434G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-434G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11662G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93613C>T
  hgvsp: ENSP00000343764.6:p.Pro31205Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-434G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-434G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro33773Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

2-179400051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400051
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400051
    reference: chr 2
allele count: 3
allele frequency: 2.484636663298604e-5
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11688G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74096C>T
  hgvsp: ENSP00000434586.1:p.Ala24699Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2280G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93587C>T
  hgvsp: ENSP00000343764.6:p.Ala31196Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96368C>T
  hgvsp: ENSP00000465570.1:p.Ala32123Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74672C>T
  hgvsp: ENSP00000340554.6:p.Ala24891Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11688G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6511G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101291C>T
  hgvsp: ENSP00000467141.1:p.Ala33764Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-408G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11688G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala33764Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-179400051-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400051
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400051
    reference: chr 2
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6511G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6511G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11688G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11688G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96368C>A
  hgvsp: ENSP00000465570.1:p.Ala32123Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-408G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74471C>A
  hgvsp: ENSP00000352154.5:p.Ala24824Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74096C>A
  hgvsp: ENSP00000434586.1:p.Ala24699Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101291C>A
  hgvsp: ENSP00000467141.1:p.Ala33764Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74672C>A
  hgvsp: ENSP00000340554.6:p.Ala24891Asp
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala33764Asp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

2-179400059-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400059
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400059
    reference: chr 2
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11696C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96360G>C
  hgvsp: ENST00000591111.1:c.96360G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11696C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6890C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74463G>C
  hgvsp: ENST00000359218.5:c.74463G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11696C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11696C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6519C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74664G>C
  hgvsp: ENST00000342175.6:c.74664G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-400C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93579G>C
  hgvsp: ENST00000342992.6:c.93579G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101283G>C
  hgvsp: ENST00000589042.1:c.101283G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-400C>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33761Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum

2-179400060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400060
    reference: chr 2
allele count: 3
allele frequency: 2.485007123687088e-5
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74663G>A
  hgvsp: ENSP00000340554.6:p.Arg24888Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6889C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11697C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74462G>A
  hgvsp: ENSP00000352154.5:p.Arg24821Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96359G>A
  hgvsp: ENSP00000465570.1:p.Arg32120Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11697C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101282G>A
  hgvsp: ENSP00000467141.1:p.Arg33761Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74087G>A
  hgvsp: ENSP00000434586.1:p.Arg24696Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-399C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93578G>A
  hgvsp: ENSP00000343764.6:p.Arg31193Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11697C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-399C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33761Gln
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-179400061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400061
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400061
    reference: chr 2
allele count: 13
allele frequency: 1.076765066428122e-4
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93577C>T
  hgvsp: ENSP00000343764.6:p.Arg31193Trp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6521G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11698G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6888G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96358C>T
  hgvsp: ENSP00000465570.1:p.Arg32120Trp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74662C>T
  hgvsp: ENSP00000340554.6:p.Arg24888Trp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74461C>T
  hgvsp: ENSP00000352154.5:p.Arg24821Trp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-398G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11698G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11698G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101281C>T
  hgvsp: ENSP00000467141.1:p.Arg33761Trp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-398G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33761Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-179400068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400068
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400068
    reference: chr 2
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2263G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93570C>T
  hgvsp: ENST00000342992.6:c.93570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101274C>T
  hgvsp: ENST00000589042.1:c.101274C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74079C>T
  hgvsp: ENST00000460472.2:c.74079C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11705G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96351C>T
  hgvsp: ENST00000591111.1:c.96351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11705G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74454C>T
  hgvsp: ENST00000359218.5:c.74454C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6528G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-391G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr33758Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-179400080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400080
    reference: chr 2
allele count: 19
allele frequency: 1.573916068854686e-4
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96339A>G
  hgvsp: ENST00000591111.1:c.96339A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-379T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101262A>G
  hgvsp: ENST00000589042.1:c.101262A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93558A>G
  hgvsp: ENST00000342992.6:c.93558A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11717T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6540T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-379T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-379T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2251T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-379T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11717T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74643A>G
  hgvsp: ENST00000342175.6:c.74643A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-379T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-379T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74442A>G
  hgvsp: ENST00000359218.5:c.74442A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74067A>G
  hgvsp: ENST00000460472.2:c.74067A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-379T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-379T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11717T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11717T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly33754Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-179400081-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400081
    reference: chr 2
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11718C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2250C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101261G>A
  hgvsp: ENSP00000467141.1:p.Gly33754Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2250C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6541C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6541C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6868C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6541C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96338G>A
  hgvsp: ENSP00000465570.1:p.Gly32113Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11718C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74642G>A
  hgvsp: ENSP00000340554.6:p.Gly24881Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74066G>A
  hgvsp: ENSP00000434586.1:p.Gly24689Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11718C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly33754Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-179400084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400084
    reference: chr 2
allele count: 6
allele frequency: 4.970508317317251e-5
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96335T>C
  hgvsp: ENSP00000465570.1:p.Phe32112Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93554T>C
  hgvsp: ENSP00000343764.6:p.Phe31185Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11721A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11721A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11721A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101258T>C
  hgvsp: ENSP00000467141.1:p.Phe33753Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11721A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74639T>C
  hgvsp: ENSP00000340554.6:p.Phe24880Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-375A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74438T>C
  hgvsp: ENSP00000352154.5:p.Phe24813Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2247A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe33753Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-179400091-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400091
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400091
    reference: chr 2
allele count: 3
allele frequency: 2.485254158658626e-5
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74632A>C
  hgvsp: ENSP00000340554.6:p.Asn24878His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93547A>C
  hgvsp: ENSP00000343764.6:p.Asn31183His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11728T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6551T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2240T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11728T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74056A>C
  hgvsp: ENSP00000434586.1:p.Asn24686His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101251A>C
  hgvsp: ENSP00000467141.1:p.Asn33751His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74431A>C
  hgvsp: ENSP00000352154.5:p.Asn24811His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-368T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-368T>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn33751His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

2-179400097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400097
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400097
    reference: chr 2
allele count: 85
allele frequency: 7.041786791264871e-4
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11734C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6557C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74425G>A
  hgvsp: ENSP00000352154.5:p.Val24809Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93541G>A
  hgvsp: ENSP00000343764.6:p.Val31181Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74050G>A
  hgvsp: ENSP00000434586.1:p.Val24684Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11734C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96322G>A
  hgvsp: ENSP00000465570.1:p.Val32108Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74626G>A
  hgvsp: ENSP00000340554.6:p.Val24876Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101245G>A
  hgvsp: ENSP00000467141.1:p.Val33749Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2234C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11734C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val33749Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

2-179400098-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400098
    reference: chr 2
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.340-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11735G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11735G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74625C>T
  hgvsp: ENST00000342175.6:c.74625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74424C>T
  hgvsp: ENST00000359218.5:c.74424C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6558G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2233G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11735G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-361G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101244C>T
  hgvsp: ENST00000589042.1:c.101244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6851G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33748Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-179400099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400099
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400099
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11736G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96320C>T
  hgvsp: ENSP00000465570.1:p.Thr32107Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2232G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+11736G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74624C>T
  hgvsp: ENSP00000340554.6:p.Thr24875Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101243C>T
  hgvsp: ENSP00000467141.1:p.Thr33748Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11736G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6559G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6559G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93539C>T
  hgvsp: ENSP00000343764.6:p.Thr31180Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11736G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-360G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74048C>T
  hgvsp: ENSP00000434586.1:p.Thr24683Ile
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33748Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-179400105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400105
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400105
    reference: chr 2
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-354C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-354C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.346-6844C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74618G>A
  hgvsp: ENSP00000340554.6:p.Arg24873His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6565C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93533G>A
  hgvsp: ENSP00000343764.6:p.Arg31178His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96314G>A
  hgvsp: ENSP00000465570.1:p.Arg32105His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101237G>A
  hgvsp: ENSP00000467141.1:p.Arg33746His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11742C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11742C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-354C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6565C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-354C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.127-354C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-354C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74042G>A
  hgvsp: ENSP00000434586.1:p.Arg24681His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6565C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11742C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-354C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74417G>A
  hgvsp: ENSP00000352154.5:p.Arg24806His
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33746His
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

2-179400106-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400106
    reference: chr 2
allele count: 3
allele frequency: 2.485212982752622e-5
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74416C>T
  hgvsp: ENSP00000352154.5:p.Arg24806Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93532C>T
  hgvsp: ENSP00000343764.6:p.Arg31178Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2225G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11743G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11743G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.346-353G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.436-353G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-353G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-353G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2225G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11743G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.127-353G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74617C>T
  hgvsp: ENSP00000340554.6:p.Arg24873Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+11743G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74041C>T
  hgvsp: ENSP00000434586.1:p.Arg24681Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-353G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6566G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-353G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96313C>T
  hgvsp: ENSP00000465570.1:p.Arg32105Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101236C>T
  hgvsp: ENSP00000467141.1:p.Arg33746Cys
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33746Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ

2-179400114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400114
    reference: chr 2
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6574C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11751C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.75-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.340-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+11751C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+11751C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.74408G>A
  hgvsp: ENSP00000352154.5:p.Arg24803Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74033G>A
  hgvsp: ENSP00000434586.1:p.Arg24678Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.75-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74609G>A
  hgvsp: ENSP00000340554.6:p.Arg24870Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101228G>A
  hgvsp: ENSP00000467141.1:p.Arg33743Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-345C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96305G>A
  hgvsp: ENSP00000465570.1:p.Arg32102Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2217C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-345C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg33743Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-179400119-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179400119
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179400119
    reference: chr 2
allele count: 1
allele frequency: 8.285141427364165e-6
allele num: 120698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.340-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+6579C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+6579C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+11756C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.492-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.75-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+6579C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.75-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.75-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.96300G>C
  hgvsp: ENSP00000465570.1:p.Gln32100His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.340-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.736-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.346-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.93519G>C
  hgvsp: ENSP00000343764.6:p.Gln31173His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.220-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.423-2212C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.826-340C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.346-2212C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.74028G>C
  hgvsp: ENSP00000434586.1:p.Gln24676His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.101223G>C
  hgvsp: ENSP00000467141.1:p.Gln33741His
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.74604G>C
  hgvsp: ENSP00000340554.6:p.Gln24868His
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln33741His
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP

2-179400124-C-T
type: Variant
location: Region
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: T
canonical: true
consequence: missense
filter: PASS
hgvs: p.Gly33740Arg
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6290C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11467C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2501C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7119C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-629C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-629C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 767
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23704
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1581
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9264
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19436
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48484
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 906
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

QD
type: SiteQuality
SIO_000300: 1.287e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.655e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.773878e6

MQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.358e0

VQSLOD
type: SiteQuality
SIO_000300: -1.433e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-625A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-625A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11471A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2497A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-625A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6294A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11471A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-625A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-625A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6294A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-625A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-625A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2497A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-625A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-625A>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 767
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3278
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9269
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19433
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23706
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2017
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6957
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48469
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

FS
type: SiteQuality
SIO_000300: 1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.773881e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11473A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6296A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-623A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11473A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7113A>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23702
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 765
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3278
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19434
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 587
bin: 9.75e1
variant carriers: 13

GenotypeDepth
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 9.75e1
variant carriers: 16

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.662628709872804e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493555542233679e-5
allele num: 66724
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.775756e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-622A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2494A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-622A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-622A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6297A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11474A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74685T>C
hgvsp: ENST00000359218.5:c.74685T>C(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-622A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-622A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-622A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11474A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-622A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-622A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2494A>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 3277
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19435
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 1580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23712
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9264
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6958
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.493555542233679e-5
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

FS
type: SiteQuality
SIO_000300: 3.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

DP
type: SiteQuality
SIO_000300: 1.774369e6

QD
type: SiteQuality
SIO_000300: 1.342e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.28e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-621C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-621C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-621C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-621C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6298C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11475C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-621C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-621C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-621C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-621C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7111C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11475C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11475C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000340554
ensembl transcript: ENST00000342175
gene symbol: TTN
hgvsc: ENST00000342175.6:c.74885G>A
hgvsp: ENSP00000340554.6:p.Arg24962His
variant of: http://identifiers.org/hgnc/12403

GenotypeDepth
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9266
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19433
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1582
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3276
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23715
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48499
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.356e1

FS
type: SiteQuality
SIO_000300: 3.282e0

MQRankSum
type: SiteQuality
SIO_000300: 8.4e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

DP
type: SiteQuality
SIO_000300: 1.774167e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.937e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2492G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7110G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-620G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11476G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-620G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23714
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19436
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3278
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9266
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 762
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1583
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48502
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6958
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.918e1

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.879e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.465e0

FS
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.438e0

DP
type: SiteQuality
SIO_000300: 1.774014e6

QD
type: SiteQuality
SIO_000300: 1.513e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6302G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11479G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-617G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7107G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74680C>T
hgvsp: ENSP00000352154.5:p.His24894Tyr
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2489G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-617G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11479G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-617G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-617G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-617G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6302G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6302G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-617G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1582
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9267
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23720
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19430
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 762
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6956
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.259e0

DP
type: SiteQuality
SIO_000300: 1.773999e6

VQSLOD
type: SiteQuality
SIO_000300: 6.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.132e0

QD
type: SiteQuality
SIO_000300: 1.28e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-602C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-602C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-602C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-602C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6317C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-602C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11494C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11494C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74665G>A
hgvsp: ENSP00000352154.5:p.Glu24889Lys
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-602C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-602C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2474C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2474C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7092C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19424
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3284
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 761
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23718
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1581
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6960
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.773916e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.997e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11499C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11499C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-597C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-597C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6322C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-597C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11499C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-597C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-597C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11499C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-597C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6322C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6322C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-597C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-597C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 9265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1581
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 9.75e1
variant carriers: 19

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23720
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 254
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 756
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19419
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2018
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 48501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.57030541276081e-3
allele num: 6614
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

DP
type: SiteQuality
SIO_000300: 1.776034e6

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

QD
type: SiteQuality
SIO_000300: 1.485e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-596G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11500G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-596G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11500G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11500G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-596G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-596G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-596G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-596G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-596G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2468G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2468G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11500G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-596G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6323G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9270
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3283
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23729
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 756
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19419
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6955
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.937e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

DP
type: SiteQuality
SIO_000300: 1.773655e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

QD
type: SiteQuality
SIO_000300: 1.506e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2458T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11510T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11510T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6333T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6333T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-586T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-586T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 9272
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23732
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19408
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.608e0

DP
type: SiteQuality
SIO_000300: 1.773663e6

VQSLOD
type: SiteQuality
SIO_000300: -1.387e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.89e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.198e0

QD
type: SiteQuality
SIO_000300: 1.502e1

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6335C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11512C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-584C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6335C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2456C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11512C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-584C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11512C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-584C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74272G>A
hgvsp: ENSP00000434586.1:p.Glu24758Lys
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-584C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11512C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-584C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-584C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19410
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23735
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9266
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

FS
type: SiteQuality
SIO_000300: 4.405e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.484e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

DP
type: SiteQuality
SIO_000300: 1.773561e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74270C>T
hgvsp: ENSP00000434586.1:p.Ala24757Val
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-582G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11514G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-582G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6337G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6337G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-582G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-582G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-582G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-582G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11514G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7072G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-582G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2454G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23735
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19406
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9270
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 366
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2003
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6951
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.247e0

DP
type: SiteQuality
SIO_000300: 1.773708e6

FS
type: SiteQuality
SIO_000300: 7.414e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.771000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.34e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

VQSLOD
type: SiteQuality
SIO_000300: -1.198e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-566C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-566C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-566C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-566C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-566C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6353C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7056C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2438C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11530C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11530C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-566C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6353C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2438C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.93745G>A
hgvsp: ENSP00000343764.6:p.Glu31249Lys
variant of: http://identifiers.org/hgnc/12403

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23741
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19389
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 365
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 9.474e0

VQSLOD
type: SiteQuality
SIO_000300: -1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.63e-1

DP
type: SiteQuality
SIO_000300: 1.773567e6

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.458e0

QD
type: SiteQuality
SIO_000300: 1.327e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11534G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2434G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6357G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11534G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2434G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-562G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-562G>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 19378
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 759
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23759
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9260
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48484
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 364
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.699e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

QD
type: SiteQuality
SIO_000300: 1.579e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.773481e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11539C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11539C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2429C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7047C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-557C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 9263
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19390
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23751
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48503
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1256
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.773729e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.619e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -1.979e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 2.167e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74239A>G
hgvsp: ENSP00000434586.1:p.Thr24747Ala
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6368T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6368T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6368T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-551T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11545T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9259
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23753
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19397
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -1.114e0

VQSLOD
type: SiteQuality
SIO_000300: -3.737e-1

QD
type: SiteQuality
SIO_000300: 1.113e1

FS
type: SiteQuality
SIO_000300: 6.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 1.773329e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6372A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2419A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6372A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7037A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2419A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-547A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11549A>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 23761
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19391
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 757
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9256
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1259
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48522
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.773355e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e0

FS
type: SiteQuality
SIO_000300: 8.100000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 1.422e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6387A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6387A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7022A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2404A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-532A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11564A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6387A>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19379
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9254
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 450
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23769
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 758
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6956
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1260
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48505
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 900
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

DP
type: SiteQuality
SIO_000300: 1.773264e6

FS
type: SiteQuality
SIO_000300: 3.322e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.264e1

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2395G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6396G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11573G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2395G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6396G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11573G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11573G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-523G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance&benign&likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6396G>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 8.75e1
variant carriers: 31

GenotypeDepth
all individuals: 165
bin: 6.25e1
variant carriers: 21

GenotypeDepth
all individuals: 19348
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 20

GenotypeDepth
all individuals: 3209
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 5.75e1
variant carriers: 22

GenotypeDepth
all individuals: 23717
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 7.25e1
variant carriers: 28

GenotypeDepth
all individuals: 870
bin: 9.75e1
variant carriers: 303

GenotypeDepth
all individuals: 404
bin: 5.25e1
variant carriers: 12

GenotypeDepth
all individuals: 9197
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 9.25e1
variant carriers: 21

GenotypeDepth
all individuals: 156
bin: 7.75e1
variant carriers: 16

GenotypeDepth
all individuals: 1512
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 179
bin: 8.25e1
variant carriers: 24

GenotypeDepth
all individuals: 695
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 39
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6925
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2217
bin: 9.75e1
variant carriers: 506

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 13
allele frequency: 1.125931058375195e-3
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 385
allele frequency: 2.331920048455481e-2
allele num: 16510
num of homozygotes: 8

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 113
allele frequency: 1.693543552544811e-3
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.389e0

DP
type: SiteQuality
SIO_000300: 1.823952e6

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

QD
type: SiteQuality
SIO_000300: 1.438e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-516C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2388C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-516C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7006C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11580C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6403C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11580C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2388C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-516C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-516C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-516C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-516C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-516C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11580C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-516C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9315
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23963
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 692
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19424
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3249
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48834
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7003
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.766049e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.31e0

VQSLOD
type: SiteQuality
SIO_000300: -5.093e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.131e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.28e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11583G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11583G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6406G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6406G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-513G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2385G>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 19423
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 693
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23967
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3249
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1519
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9311
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.765917e6

FS
type: SiteQuality
SIO_000300: 3.714e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.719e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.362e0

VQSLOD
type: SiteQuality
SIO_000300: -1.696e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-512T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6407T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-7002T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6407T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11584T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-512T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-512T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-512T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-512T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2384T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-512T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-512T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6407T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-512T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 23965
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19424
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 692
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3248
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9311
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.677e1

DP
type: SiteQuality
SIO_000300: 1.765914e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.62e0

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 9.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-508A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-508A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6998A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2380A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11588A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-508A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-508A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-508A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-508A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-508A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6411A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11588A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6411A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-508A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-508A>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3248
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23965
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9315
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19424
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 572
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 692
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48839
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.766e0

MQRankSum
type: SiteQuality
SIO_000300: -2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 1.765976e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.547e0

QD
type: SiteQuality
SIO_000300: 1.186e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-502C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11594C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2374C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11594C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-502C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11594C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-502C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74190G>A
hgvsp: ENST00000460472.2:c.74190G>A(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-502C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-502C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-502C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-502C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6417C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-502C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19420
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3249
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9317
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 692
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23972
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.76e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.648e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 7.608e0

DP
type: SiteQuality
SIO_000300: 1.765944e6

QD
type: SiteQuality
SIO_000300: 9.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-498T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-498T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-498T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-498T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11598T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-498T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-498T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-498T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11598T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6421T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6421T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-498T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6421T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11598T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11598T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19416
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 692
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23977
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9318
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3249
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7002
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.09e-1

QD
type: SiteQuality
SIO_000300: 1.451e1

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

DP
type: SiteQuality
SIO_000300: 1.76599e6

FS
type: SiteQuality
SIO_000300: 1.86e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2367T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2367T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11601T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11601T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-495T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-495T>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 690
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9316
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 3247
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 23975
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 393
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19414
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 9.75e1
variant carriers: 14

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.09819555182543e-4
allele num: 66724
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.39e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 1.767084e6

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6426A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000340554
ensembl transcript: ENST00000342175
gene symbol: TTN
hgvsc: ENST00000342175.6:c.74757T>C
hgvsp: ENST00000342175.6:c.74757T>C(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-493A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-493A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-493A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.93672T>C
hgvsp: ENST00000342992.6:c.93672T>C(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6983A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-493A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11603A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-493A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2365A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-493A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-493A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6426A>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 687
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 214
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 9.25e1
variant carriers: 5

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23960
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19395
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1519
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 162
bin: 8.25e1
variant carriers: 6

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 606
bin: 9.75e1
variant carriers: 38

GenotypeDepth
all individuals: 9317
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 9.75e1
variant carriers: 63

African
type: Population
allele count: 2
allele frequency: 2.040399918384003e-4
allele num: 9802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.222222222222222e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.196516890980486e-4
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 1.817080557238038e-3
allele num: 16510
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 1.731301939058172e-4
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.217e0

QD
type: SiteQuality
SIO_000300: 1.436e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.772229e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11618G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11618G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-478G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11618G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2350G>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19414
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3247
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23987
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9332
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1519
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48884
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.937e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.124e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.306e0

DP
type: SiteQuality
SIO_000300: 1.765854e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.014e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-471T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6448T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-471T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-471T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11625T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-471T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-471T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6961T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-471T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11625T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-471T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6448T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74534A>G
hgvsp: ENSP00000352154.5:p.Asp24845Gly
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-471T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19424
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9334
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 690
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3246
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23987
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48892
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

DP
type: SiteQuality
SIO_000300: 1.76601e6

QD
type: SiteQuality
SIO_000300: 1.513e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.747e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.45e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6457G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11634G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11634G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6457G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2334G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-462G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-462G>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19414
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9330
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1519
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24003
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3247
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 689
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48891
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.766033e6

QD
type: SiteQuality
SIO_000300: 1.138e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 2.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11652G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2316G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6475G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-444G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11652G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2316G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 9335
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3247
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24000
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7007
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 3.936e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

DP
type: SiteQuality
SIO_000300: 1.766185e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.558e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

QD
type: SiteQuality
SIO_000300: 1.096e1

VQSLOD
type: SiteQuality
SIO_000300: -1.691e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6476G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74131C>G
hgvsp: ENSP00000434586.1:p.Pro24711Ala
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.93622C>G
hgvsp: ENSP00000343764.6:p.Pro31208Ala
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-443G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2315G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-443G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-443G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11653G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-443G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11653G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-443G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-443G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11653G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74506C>G
hgvsp: ENSP00000352154.5:p.Pro24836Ala
variant of: http://identifiers.org/hgnc/12403

GenotypeDepth
all individuals: 1521
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24003
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3245
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9334
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48913
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997422216893472e-5
allele num: 66724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.674e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -1.416e0

QD
type: SiteQuality
SIO_000300: 1.346e1

DP
type: SiteQuality
SIO_000300: 1.766266e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 7.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74122C>T
hgvsp: ENSP00000434586.1:p.Pro24708Ser
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11662G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11662G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11662G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-434G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-434G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 3244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 688
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1521
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 568
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9336
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19414
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24005
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.766134e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 1.045e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-408G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-408G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6898G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2280G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-408G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11688G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74471C>T
hgvsp: ENSP00000352154.5:p.Ala24824Val
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-408G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-408G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6511G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-408G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6511G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-408G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11688G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 23995
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9337
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1522
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.766316e6

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 1.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.773e0

QD
type: SiteQuality
SIO_000300: 1.19e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-408G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11688G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11688G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2280G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2280G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6511G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6898G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11688G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-408G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-408G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-408G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-408G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.93587C>A
hgvsp: ENSP00000343764.6:p.Ala31196Asp
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-408G>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1522
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9337
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23995
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1710
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.773e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 1.094e0

QD
type: SiteQuality
SIO_000300: 1.19e1

DP
type: SiteQuality
SIO_000300: 1.766316e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-400C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-400C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2272C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2272C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-400C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6519C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-400C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6519C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-400C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-400C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11696C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74088G>C
hgvsp: ENST00000460472.2:c.74088G>C(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-400C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-400C>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 687
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23994
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19426
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3245
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9336
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1521
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48927
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.196e0

VQSLOD
type: SiteQuality
SIO_000300: 7.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 1.4e1

DP
type: SiteQuality
SIO_000300: 1.765936e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 2.214e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-399C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-399C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6520C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-399C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-399C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6520C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-399C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11697C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-399C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6520C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2271C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-399C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2271C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11697C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-399C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23990
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9339
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19422
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3247
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496537665997182e-5
allele num: 66718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-1

FS
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.766072e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.047e0

QD
type: SiteQuality
SIO_000300: 1.054e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74086C>T
hgvsp: ENSP00000434586.1:p.Arg24696Trp
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11698G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2270G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6521G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6521G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2270G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11698G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-398G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-398G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-398G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-398G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-398G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-398G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-398G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9336
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 580
bin: 9.75e1
variant carriers: 12

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19418
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23989
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3245
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48914
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.94838284224094e-4
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.766987e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-391G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2263G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000340554
ensembl transcript: ENST00000342175
gene symbol: TTN
hgvsc: ENST00000342175.6:c.74655C>T
hgvsp: ENST00000342175.6:c.74655C>T(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6528G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-391G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6528G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-391G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11705G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11705G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6881G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-391G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-391G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-391G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11705G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3246
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19413
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23995
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9339
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48922
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6998
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 5.06e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.982e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

DP
type: SiteQuality
SIO_000300: 1.766015e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6869T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6540T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2251T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6540T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11717T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 9336
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 685
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1517
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23993
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19401
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3246
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 584
bin: 9.75e1
variant carriers: 17

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1718
bin: 9.75e1
variant carriers: 19

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.080799836768007e-4
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.948499655265446e-4
allele num: 66718
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.768028e6

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.473e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.93557G>A
hgvsp: ENSP00000343764.6:p.Gly31186Glu
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74441G>A
hgvsp: ENSP00000352154.5:p.Gly24814Glu
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11718C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11718C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-378C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-378C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3246
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9343
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23998
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19401
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48916
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.765839e6

FS
type: SiteQuality
SIO_000300: 5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.636e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.736-375A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-375A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-375A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74063T>C
hgvsp: ENSP00000434586.1:p.Phe24688Ser
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-375A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6544A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-375A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-375A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6865A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-375A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6544A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11721A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2247A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6544A>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3246
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19397
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 391
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9342
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23997
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1705
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48908
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993614533681087e-5
allele num: 66714
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.383e1

DP
type: SiteQuality
SIO_000300: 1.766262e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 6.428e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-368T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-368T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11728T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000465570
ensembl transcript: ENST00000591111
gene symbol: TTN
hgvsc: ENST00000591111.1:c.96328A>C
hgvsp: ENSP00000465570.1:p.Asn32110His
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-368T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6858T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2240T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-368T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-368T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6551T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6551T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11728T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11728T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-368T>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 212
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24000
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19396
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9341
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 686
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48912
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 7000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.215e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

DP
type: SiteQuality
SIO_000300: 1.766007e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11734C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6852C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6557C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2234C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11734C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-362C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-362C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 209
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19397
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3232
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 146
bin: 7.75e1
variant carriers: 7

GenotypeDepth
all individuals: 9335
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 679
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 23985
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 158
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 108
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 143
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1509
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 7.25e1
variant carriers: 5

GenotypeDepth
all individuals: 615
bin: 9.75e1
variant carriers: 54

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48891
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6996
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1728
bin: 9.75e1
variant carriers: 85

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.993614533681087e-5
allele num: 66714
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 76
allele frequency: 7.753519689859213e-3
allele num: 9802
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.44e-1

DP
type: SiteQuality
SIO_000300: 1.771078e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.337e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000465570
ensembl transcript: ENST00000591111
gene symbol: TTN
hgvsc: ENST00000591111.1:c.96321C>T
hgvsp: ENST00000591111.1:c.96321C>T(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2233G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6558G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.93540C>T
hgvsp: ENST00000342992.6:c.93540C>T(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11735G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-361G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-361G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11735G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-361G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+6558G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-361G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.74049C>T
hgvsp: ENST00000460472.2:c.74049C>T(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-361G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-361G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19404
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1517
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24019
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 681
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3242
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9348
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

DP
type: SiteQuality
SIO_000300: 1.763639e6

QD
type: SiteQuality
SIO_000300: 1.325e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 1.0173e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.168e-1

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-360G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6850G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2232G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11736G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-360G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-360G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-360G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6559G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-360G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-360G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-360G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74423C>T
hgvsp: ENSP00000352154.5:p.Thr24808Ile
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-360G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-360G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 679
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19404
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9350
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1516
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24020
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3242
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7007
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.361e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.262e0

FS
type: SiteQuality
SIO_000300: 5.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.763594e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.423-2226C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.340-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-354C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2226C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+11742C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11742C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 679
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24025
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9350
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1517
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19395
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48940
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 876
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -2.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.406e1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

DP
type: SiteQuality
SIO_000300: 1.763683e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.340-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.75-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11743G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.492-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.346-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.75-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6843G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6566G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6566G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.75-353G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-353G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 3244
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24025
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19394
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1516
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9349
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

DP
type: SiteQuality
SIO_000300: 1.763627e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

QD
type: SiteQuality
SIO_000300: 2.098e1

FS
type: SiteQuality
SIO_000300: 2.615e0

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+6574C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-345C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11751C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6835C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+6574C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.346-2217C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11751C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.826-345C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.220-345C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-345C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-345C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-345C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.93524G>A
hgvsp: ENSP00000343764.6:p.Arg31175Gln
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-345C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 24023
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1517
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3243
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9347
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19394
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48946
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 1.763539e6

QD
type: SiteQuality
SIO_000300: 1.33e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.496e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.346-340C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.74403G>C
hgvsp: ENSP00000352154.5:p.Gln24801His
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.340-340C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+11756C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.436-340C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.346-6830C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+11756C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.127-340C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+11756C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.127-340C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+11756C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.75-340C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.75-340C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.340-340C>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 387
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24015
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3242
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1518
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9349
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19390
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 679
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 209
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.387e0

QD
type: SiteQuality
SIO_000300: 1.103e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

FS
type: SiteQuality
SIO_000300: 1.538e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.82e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 1.763401e6