6-152542631-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542631
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542631
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21373C>A
  hgvsp: ENSP00000396024.1:p.Gln7125Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21586C>A
  hgvsp: ENSP00000356224.5:p.Gln7196Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.352C>A
  hgvsp: ENSP00000356220.3:p.Gln118Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5158C>A
  hgvsp: ENSP00000349276.4:p.Gln1720Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21586C>A
  hgvsp: ENSP00000265368.4:p.Gln7196Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5170C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5278C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20422C>A
  hgvsp: ENSP00000341887.5:p.Gln6808Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21373C>A
  hgvsp: ENSP00000390975.1:p.Gln7125Lys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln7196Lys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

6-152542638-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542638
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542638
    reference: chr 6
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21579C>T
  hgvsp: ENST00000265368.4:c.21579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5271C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5163C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21366C>T
  hgvsp: ENST00000448038.1:c.21366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21366C>T
  hgvsp: ENST00000423061.1:c.21366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.345C>T
  hgvsp: ENST00000367251.3:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5151C>T
  hgvsp: ENST00000356820.4:c.5151C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21579C>T
  hgvsp: ENST00000367255.5:c.21579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20415C>T
  hgvsp: ENST00000341594.5:c.20415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile7193Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/6-152542643-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542643
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542643
    reference: chr 6
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21574T>G
  hgvsp: ENSP00000356224.5:p.Ser7192Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5158T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.340T>G
  hgvsp: ENSP00000356220.3:p.Ser114Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5266T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21361T>G
  hgvsp: ENSP00000390975.1:p.Ser7121Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21574T>G
  hgvsp: ENSP00000265368.4:p.Ser7192Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21361T>G
  hgvsp: ENSP00000396024.1:p.Ser7121Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5146T>G
  hgvsp: ENSP00000349276.4:p.Ser1716Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20410T>G
  hgvsp: ENSP00000341887.5:p.Ser6804Ala
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser7192Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

6-152542646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542646
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542646
    reference: chr 6
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5155G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5143G>A
  hgvsp: ENSP00000349276.4:p.Gly1715Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20407G>A
  hgvsp: ENSP00000341887.5:p.Gly6803Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21571G>A
  hgvsp: ENSP00000356224.5:p.Gly7191Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21571G>A
  hgvsp: ENSP00000265368.4:p.Gly7191Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5263G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21358G>A
  hgvsp: ENSP00000390975.1:p.Gly7120Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21358G>A
  hgvsp: ENSP00000396024.1:p.Gly7120Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.337G>A
  hgvsp: ENSP00000356220.3:p.Gly113Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly7191Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

6-152542654-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542654
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542654
    reference: chr 6
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20399A>G
  hgvsp: ENSP00000341887.5:p.Gln6800Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21350A>G
  hgvsp: ENSP00000396024.1:p.Gln7117Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21563A>G
  hgvsp: ENSP00000265368.4:p.Gln7188Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21563A>G
  hgvsp: ENSP00000356224.5:p.Gln7188Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5255A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5135A>G
  hgvsp: ENSP00000349276.4:p.Gln1712Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21350A>G
  hgvsp: ENSP00000390975.1:p.Gln7117Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.329A>G
  hgvsp: ENSP00000356220.3:p.Gln110Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5147A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38458
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln7188Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

6-152542655-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542655
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542655
    reference: chr 6
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21562C>A
  hgvsp: ENSP00000356224.5:p.Gln7188Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20398C>A
  hgvsp: ENSP00000341887.5:p.Gln6800Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21349C>A
  hgvsp: ENSP00000390975.1:p.Gln7117Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5134C>A
  hgvsp: ENSP00000349276.4:p.Gln1712Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.328C>A
  hgvsp: ENSP00000356220.3:p.Gln110Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21349C>A
  hgvsp: ENSP00000396024.1:p.Gln7117Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5254C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21562C>A
  hgvsp: ENSP00000265368.4:p.Gln7188Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5146C>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln7188Lys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

6-152542657-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542657
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542657
    reference: chr 6
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5252T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5144T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5132T>C
  hgvsp: ENSP00000349276.4:p.Leu1711Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20396T>C
  hgvsp: ENSP00000341887.5:p.Leu6799Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21560T>C
  hgvsp: ENSP00000356224.5:p.Leu7187Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.326T>C
  hgvsp: ENSP00000356220.3:p.Leu109Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21560T>C
  hgvsp: ENSP00000265368.4:p.Leu7187Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21347T>C
  hgvsp: ENSP00000390975.1:p.Leu7116Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21347T>C
  hgvsp: ENSP00000396024.1:p.Leu7116Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu7187Ser
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

6-152542659-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542659
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542659
    reference: chr 6
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21345C>G
  hgvsp: ENSP00000390975.1:p.Ser7115Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20394C>G
  hgvsp: ENSP00000341887.5:p.Ser6798Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21558C>G
  hgvsp: ENSP00000356224.5:p.Ser7186Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.324C>G
  hgvsp: ENSP00000356220.3:p.Ser108Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5130C>G
  hgvsp: ENSP00000349276.4:p.Ser1710Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5250C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21558C>G
  hgvsp: ENSP00000265368.4:p.Ser7186Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21345C>G
  hgvsp: ENSP00000396024.1:p.Ser7115Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5142C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser7186Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

6-152542664-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542664
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542664
    reference: chr 6
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.319A>C
  hgvsp: ENST00000367251.3:c.319A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21340A>C
  hgvsp: ENST00000423061.1:c.21340A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21340A>C
  hgvsp: ENST00000448038.1:c.21340A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21553A>C
  hgvsp: ENST00000265368.4:c.21553A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5125A>C
  hgvsp: ENST00000356820.4:c.5125A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20389A>C
  hgvsp: ENST00000341594.5:c.20389A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5245A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21553A>C
  hgvsp: ENST00000367255.5:c.21553A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5137A>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg7185Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD

6-152542679-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542679
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542679
    reference: chr 6
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21538C>G
  hgvsp: ENSP00000356224.5:p.Leu7180Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5110C>G
  hgvsp: ENSP00000349276.4:p.Leu1704Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5230C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.304C>G
  hgvsp: ENSP00000356220.3:p.Leu102Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21325C>G
  hgvsp: ENSP00000396024.1:p.Leu7109Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21325C>G
  hgvsp: ENSP00000390975.1:p.Leu7109Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20374C>G
  hgvsp: ENSP00000341887.5:p.Leu6792Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21538C>G
  hgvsp: ENSP00000265368.4:p.Leu7180Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5122C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu7180Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

6-152542693-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542693
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542693
    reference: chr 6
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5216A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21524A>G
  hgvsp: ENSP00000265368.4:p.Asn7175Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21524A>G
  hgvsp: ENSP00000356224.5:p.Asn7175Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5096A>G
  hgvsp: ENSP00000349276.4:p.Asn1699Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5108A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21311A>G
  hgvsp: ENSP00000390975.1:p.Asn7104Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.290A>G
  hgvsp: ENSP00000356220.3:p.Asn97Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20360A>G
  hgvsp: ENSP00000341887.5:p.Asn6787Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21311A>G
  hgvsp: ENSP00000396024.1:p.Asn7104Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn7175Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

6-152542699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542699
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542699
    reference: chr 6
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-5G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-5G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-5G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-5G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-5G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-5G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-5G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-5G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-5G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: c.21523-5G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-152542700-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542700
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542700
    reference: chr 6
allele count: 2
allele frequency: 1.650955077512341e-5
allele num: 121142
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-6G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-6G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-6G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-6G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-6G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-6G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-6G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-6G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-6G>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: c.21523-6G>C
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

6-152542700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542700
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542700
    reference: chr 6
allele count: 2
allele frequency: 1.650955077512341e-5
allele num: 121142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-6G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-6G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-6G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-6G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-6G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-6G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-6G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-6G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-6G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: c.21523-6G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/6-152542701-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542701
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542702
    reference: chr 6
allele count: 7
allele frequency: 5.79057955429082e-5
allele num: 120886
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-8dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-8dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-8dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-8dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-8dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-8dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-8dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-8dupT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-8dupT
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-152542701-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542701
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542700
    reference: chr 6
allele count: 7
allele frequency: 5.79057955429082e-5
allele num: 120886
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-8delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-8delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-8delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-8delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-8delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-8delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-8delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-8delT
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-8delT
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2645
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
hgvs: c.21523-8delT
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: CA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-152542702-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542702
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542702
    reference: chr 6
allele count: 199
allele frequency: 1.647651062279554e-3
allele num: 120778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-8T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-8T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-8T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-8T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-8T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-8T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-8T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-8T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-8T>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4195
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3861
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 9.75e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5997
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
hgvs: c.21523-8T>G
num of homozygotes: 3
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/6-152542711-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542711
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542710
    reference: chr 6
allele count: 2
allele frequency: 1.653111155194075e-5
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-18delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-18delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-18delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-18delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-18delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-18delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-18delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-18delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-18delG
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38348
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: AC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-152542712-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542712
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542712
    reference: chr 6
allele count: 10
allele frequency: 8.266239026567693e-5
allele num: 120974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-18G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-18G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-18G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-18G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-18G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-18G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-18G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-18G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-18G>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 7.25e1
  variant carriers: 0
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: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

6-152542716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542716
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542716
    reference: chr 6
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-22A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

6-152542722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542722
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542722
    reference: chr 6
allele count: 1
allele frequency: 8.272940865018697e-6
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-28T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-28T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-28T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-28T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-28T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-28T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-28T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-28T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-28T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

6-152542724-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542724
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542724
    reference: chr 6
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-30T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-30T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-30T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-30T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-30T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-30T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-30T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-30T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-30T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38348
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

6-152542725-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542725
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542725
    reference: chr 6
allele count: 44
allele frequency: 3.642384105960265e-4
allele num: 120800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-31A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-31A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-31A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-31A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-31A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-31A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-31A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-31A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-31A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5006
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5781
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38358
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-152542728-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542728
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542728
    reference: chr 6
allele count: 2
allele frequency: 1.655711376392867e-5
allele num: 120794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-34G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-34G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-34G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-34G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-34G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-34G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-34G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-34G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-34G>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2844
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1616
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

6-152542741-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542741
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542741
    reference: chr 6
allele count: 1
allele frequency: 8.292836647703714e-6
allele num: 120586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-47G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-47G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-47G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-47G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-47G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-47G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-47G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-47G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-47G>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-152542745-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152542745
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152542745
    reference: chr 6
allele count: 2
allele frequency: 1.66143315223712e-5
allele num: 120378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21310-51A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21310-51A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21523-51A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.289-51A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5095-51A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20359-51A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5215-51A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5107-51A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21523-51A>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

6-152545587-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545587
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545587
    reference: chr 6
allele count: 1
allele frequency: 8.36946150884652e-6
allele num: 119482
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+42T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+42T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1966
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

6-152545588-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545588
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545588
    reference: chr 6
allele count: 1
allele frequency: 8.366940544520491e-6
allele num: 119518
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+41T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+41T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+41T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+41T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+41T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+41T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+41T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+41T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+41T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

6-152545590-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545590
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545590
    reference: chr 6
allele count: 1
allele frequency: 8.364141253617491e-6
allele num: 119558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+39A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+39A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+39A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+39A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+39A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+39A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+39A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+39A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+39A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7593
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-152545594-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545594
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545594
    reference: chr 6
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+35T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+35T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+35T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+35T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+35T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+35T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+35T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+35T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+35T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-152545599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545599
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545599
    reference: chr 6
allele count: 2
allele frequency: 1.666805567130594e-5
allele num: 119990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+30G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+30G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+30G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+30G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+30G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+30G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+30G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+30G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+30G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21565
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

6-152545600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545600
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545600
    reference: chr 6
allele count: 2279
allele frequency: 1.8971746333017e-2
allele num: 120126
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+29C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+29C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+29C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+29C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+29C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+29C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+29C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+29C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+29C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21029
  bin: 2.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 7866
  bin: 3.25e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 5.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 19502
  bin: 2.75e1
  variant carriers: 218
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.75e1
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.25e1
  variant carriers: 330
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 34752
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 30
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-152545613-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545613
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545613
    reference: chr 6
allele count: 14
allele frequency: 1.158748551564311e-4
allele num: 120820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+16A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+16A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+16A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+16A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+16A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+16A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+16A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+16A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+16A>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-152545615-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545615
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545615
    reference: chr 6
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+14T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+14T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+14T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+14T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+14T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+14T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+14T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+14T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+14T>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

6-152545615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545615
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545615
    reference: chr 6
allele count: 5
allele frequency: 4.136881122584061e-5
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+14T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+14T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

6-152545617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545617
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545617
    reference: chr 6
allele count: 2
allele frequency: 1.654068180690408e-5
allele num: 120914
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+12A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+12A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+12A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+12A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+12A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+12A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+12A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+12A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+12A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22118
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20853
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

6-152545622-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545622
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545621
    reference: chr 6
allele count: 2
allele frequency: 1.652592090694254e-5
allele num: 121022
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21522+6delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5214+6delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21522+6delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20358+6delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5106+6delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21309+6delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.288+6delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5094+6delG
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21309+6delG
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22193
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
hgvs: c.21522+6delG
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: TC
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

6-152545644-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545644
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545643
    reference: chr 6
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5198delA
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21506delA
  hgvsp: ENSP00000265368.4:p.Gln7169ArgfsTer30
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.272delA
  hgvsp: ENSP00000356220.3:p.Gln91ArgfsTer30
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5078delA
  hgvsp: ENSP00000349276.4:p.Gln1693ArgfsTer30
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21506delA
  hgvsp: ENSP00000356224.5:p.Gln7169ArgfsTer30
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21293delA
  hgvsp: ENSP00000390975.1:p.Gln7098ArgfsTer30
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5090delA
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21293delA
  hgvsp: ENSP00000396024.1:p.Gln7098ArgfsTer30
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20342delA
  hgvsp: ENSP00000341887.5:p.Gln6781ArgfsTer30
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln7169ArgfsTer30
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CT
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

6-152545649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545649
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545649
    reference: chr 6
allele count: 3
allele frequency: 2.473492406378312e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5074G>A
  hgvsp: ENSP00000349276.4:p.Val1692Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20338G>A
  hgvsp: ENSP00000341887.5:p.Val6780Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21502G>A
  hgvsp: ENSP00000265368.4:p.Val7168Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.268G>A
  hgvsp: ENSP00000356220.3:p.Val90Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21502G>A
  hgvsp: ENSP00000356224.5:p.Val7168Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21289G>A
  hgvsp: ENSP00000390975.1:p.Val7097Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5086G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5194G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21289G>A
  hgvsp: ENSP00000396024.1:p.Val7097Ile
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val7168Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

6-152545651-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545651
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545651
    reference: chr 6
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21287A>C
  hgvsp: ENSP00000396024.1:p.Gln7096Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5192A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5072A>C
  hgvsp: ENSP00000349276.4:p.Gln1691Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.266A>C
  hgvsp: ENSP00000356220.3:p.Gln89Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21500A>C
  hgvsp: ENSP00000356224.5:p.Gln7167Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21500A>C
  hgvsp: ENSP00000265368.4:p.Gln7167Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20336A>C
  hgvsp: ENSP00000341887.5:p.Gln6779Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21287A>C
  hgvsp: ENSP00000390975.1:p.Gln7096Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5084A>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6908
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7328
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln7167Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

6-152545657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545657
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545657
    reference: chr 6
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20330C>T
  hgvsp: ENSP00000341887.5:p.Ala6777Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21494C>T
  hgvsp: ENSP00000356224.5:p.Ala7165Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.260C>T
  hgvsp: ENSP00000356220.3:p.Ala87Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5066C>T
  hgvsp: ENSP00000349276.4:p.Ala1689Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5078C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21281C>T
  hgvsp: ENSP00000390975.1:p.Ala7094Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21281C>T
  hgvsp: ENSP00000396024.1:p.Ala7094Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21494C>T
  hgvsp: ENSP00000265368.4:p.Ala7165Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5186C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala7165Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/6-152545658-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545658
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545658
    reference: chr 6
allele count: 5
allele frequency: 4.121603798470061e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21280G>T
  hgvsp: ENSP00000396024.1:p.Ala7094Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21493G>T
  hgvsp: ENSP00000356224.5:p.Ala7165Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5077G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5185G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21280G>T
  hgvsp: ENSP00000390975.1:p.Ala7094Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20329G>T
  hgvsp: ENSP00000341887.5:p.Ala6777Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.259G>T
  hgvsp: ENSP00000356220.3:p.Ala87Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5065G>T
  hgvsp: ENSP00000349276.4:p.Ala1689Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21493G>T
  hgvsp: ENSP00000265368.4:p.Ala7165Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6912
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38344
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala7165Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

6-152545661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545661
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545661
    reference: chr 6
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.256G>A
  hgvsp: ENSP00000356220.3:p.Glu86Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21277G>A
  hgvsp: ENSP00000390975.1:p.Glu7093Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21490G>A
  hgvsp: ENSP00000356224.5:p.Glu7164Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5182G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20326G>A
  hgvsp: ENSP00000341887.5:p.Glu6776Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5062G>A
  hgvsp: ENSP00000349276.4:p.Glu1688Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21490G>A
  hgvsp: ENSP00000265368.4:p.Glu7164Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21277G>A
  hgvsp: ENSP00000396024.1:p.Glu7093Lys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5074G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu7164Lys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

6-152545665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545665
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545665
    reference: chr 6
allele count: 157
allele frequency: 1.294098252555226e-3
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20322C>T
  hgvsp: ENST00000341594.5:c.20322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5070C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21486C>T
  hgvsp: ENST00000367255.5:c.21486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5058C>T
  hgvsp: ENST00000356820.4:c.5058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21273C>T
  hgvsp: ENST00000448038.1:c.21273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21273C>T
  hgvsp: ENST00000423061.1:c.21273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.252C>T
  hgvsp: ENST00000367251.3:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21486C>T
  hgvsp: ENST00000265368.4:c.21486C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5178C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 21130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser7162Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

6-152545667-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545667
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545667
    reference: chr 6
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21271T>C
  hgvsp: ENSP00000396024.1:p.Ser7091Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.250T>C
  hgvsp: ENSP00000356220.3:p.Ser84Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21271T>C
  hgvsp: ENSP00000390975.1:p.Ser7091Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5068T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21484T>C
  hgvsp: ENSP00000265368.4:p.Ser7162Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5176T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21484T>C
  hgvsp: ENSP00000356224.5:p.Ser7162Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5056T>C
  hgvsp: ENSP00000349276.4:p.Ser1686Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20320T>C
  hgvsp: ENSP00000341887.5:p.Ser6774Pro
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser7162Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

6-152545677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545677
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545677
    reference: chr 6
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.240G>A
  hgvsp: ENST00000367251.3:c.240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21261G>A
  hgvsp: ENST00000423061.1:c.21261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5046G>A
  hgvsp: ENST00000356820.4:c.5046G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21474G>A
  hgvsp: ENST00000265368.4:c.21474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21261G>A
  hgvsp: ENST00000448038.1:c.21261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21474G>A
  hgvsp: ENST00000367255.5:c.21474G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20310G>A
  hgvsp: ENST00000341594.5:c.20310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5058G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5166G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu7158Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

6-152545681-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545681
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545681
    reference: chr 6
allele count: 57
allele frequency: 4.697853822569479e-4
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20306G>A
  hgvsp: ENSP00000341887.5:p.Arg6769His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5042G>A
  hgvsp: ENSP00000349276.4:p.Arg1681His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5054G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21470G>A
  hgvsp: ENSP00000356224.5:p.Arg7157His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21470G>A
  hgvsp: ENSP00000265368.4:p.Arg7157His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.236G>A
  hgvsp: ENSP00000356220.3:p.Arg79His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5162G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21257G>A
  hgvsp: ENSP00000390975.1:p.Arg7086His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21257G>A
  hgvsp: ENSP00000396024.1:p.Arg7086His
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg7157His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

6-152545682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545682
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545682
    reference: chr 6
allele count: 6
allele frequency: 4.945027774572667e-5
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.235C>T
  hgvsp: ENSP00000356220.3:p.Arg79Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5053C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5161C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21256C>T
  hgvsp: ENSP00000390975.1:p.Arg7086Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21469C>T
  hgvsp: ENSP00000265368.4:p.Arg7157Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21469C>T
  hgvsp: ENSP00000356224.5:p.Arg7157Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5041C>T
  hgvsp: ENSP00000349276.4:p.Arg1681Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20305C>T
  hgvsp: ENSP00000341887.5:p.Arg6769Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21256C>T
  hgvsp: ENSP00000396024.1:p.Arg7086Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22032
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg7157Cys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

6-152545686-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545686
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545686
    reference: chr 6
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5157A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21465A>T
  hgvsp: ENST00000367255.5:c.21465A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21252A>T
  hgvsp: ENST00000423061.1:c.21252A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20301A>T
  hgvsp: ENST00000341594.5:c.20301A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5037A>T
  hgvsp: ENST00000356820.4:c.5037A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21465A>T
  hgvsp: ENST00000265368.4:c.21465A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5049A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.231A>T
  hgvsp: ENST00000367251.3:c.231A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21252A>T
  hgvsp: ENST00000448038.1:c.21252A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg7155Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

6-152545687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545687
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545687
    reference: chr 6
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20300G>C
  hgvsp: ENSP00000341887.5:p.Arg6767Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5156G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5048G>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21251G>C
  hgvsp: ENSP00000396024.1:p.Arg7084Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21251G>C
  hgvsp: ENSP00000390975.1:p.Arg7084Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5036G>C
  hgvsp: ENSP00000349276.4:p.Arg1679Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21464G>C
  hgvsp: ENSP00000356224.5:p.Arg7155Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.230G>C
  hgvsp: ENSP00000356220.3:p.Arg77Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21464G>C
  hgvsp: ENSP00000265368.4:p.Arg7155Pro
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg7155Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

6-152545687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545687
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545687
    reference: chr 6
allele count: 5
allele frequency: 4.121332014507089e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20300G>A
  hgvsp: ENSP00000341887.5:p.Arg6767Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.230G>A
  hgvsp: ENSP00000356220.3:p.Arg77Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21464G>A
  hgvsp: ENSP00000356224.5:p.Arg7155Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21251G>A
  hgvsp: ENSP00000396024.1:p.Arg7084Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5048G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5036G>A
  hgvsp: ENSP00000349276.4:p.Arg1679Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21251G>A
  hgvsp: ENSP00000390975.1:p.Arg7084Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21464G>A
  hgvsp: ENSP00000265368.4:p.Arg7155Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5156G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg7155Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

6-152545688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545688
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545688
    reference: chr 6
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21250C>T
  hgvsp: ENSP00000390975.1:p.Arg7084Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21463C>T
  hgvsp: ENSP00000265368.4:p.Arg7155Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21250C>T
  hgvsp: ENSP00000396024.1:p.Arg7084Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5035C>T
  hgvsp: ENSP00000349276.4:p.Arg1679Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.229C>T
  hgvsp: ENSP00000356220.3:p.Arg77Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20299C>T
  hgvsp: ENSP00000341887.5:p.Arg6767Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21463C>T
  hgvsp: ENSP00000356224.5:p.Arg7155Ter
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5155C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5047C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg7155Ter
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

6-152545697-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545697
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545697
    reference: chr 6
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5026T>A
  hgvsp: ENSP00000349276.4:p.Ser1676Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21241T>A
  hgvsp: ENSP00000390975.1:p.Ser7081Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20290T>A
  hgvsp: ENSP00000341887.5:p.Ser6764Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.220T>A
  hgvsp: ENSP00000356220.3:p.Ser74Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21454T>A
  hgvsp: ENSP00000265368.4:p.Ser7152Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5146T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5038T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21241T>A
  hgvsp: ENSP00000396024.1:p.Ser7081Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21454T>A
  hgvsp: ENSP00000356224.5:p.Ser7152Thr
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser7152Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

6-152545699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545699
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545699
    reference: chr 6
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.218A>G
  hgvsp: ENSP00000356220.3:p.Tyr73Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21452A>G
  hgvsp: ENSP00000356224.5:p.Tyr7151Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20288A>G
  hgvsp: ENSP00000341887.5:p.Tyr6763Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5036A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5144A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5024A>G
  hgvsp: ENSP00000349276.4:p.Tyr1675Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21239A>G
  hgvsp: ENSP00000390975.1:p.Tyr7080Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21239A>G
  hgvsp: ENSP00000396024.1:p.Tyr7080Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21452A>G
  hgvsp: ENSP00000265368.4:p.Tyr7151Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr7151Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

6-152545705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545705
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545705
    reference: chr 6
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20282C>T
  hgvsp: ENSP00000341887.5:p.Ala6761Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21233C>T
  hgvsp: ENSP00000396024.1:p.Ala7078Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.212C>T
  hgvsp: ENSP00000356220.3:p.Ala71Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21233C>T
  hgvsp: ENSP00000390975.1:p.Ala7078Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21446C>T
  hgvsp: ENSP00000265368.4:p.Ala7149Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21446C>T
  hgvsp: ENSP00000356224.5:p.Ala7149Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5018C>T
  hgvsp: ENSP00000349276.4:p.Ala1673Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5138C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5030C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala7149Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

6-152545710-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545710
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545710
    reference: chr 6
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21441G>A
  hgvsp: ENSP00000265368.4:p.Met7147Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.207G>A
  hgvsp: ENSP00000356220.3:p.Met69Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20277G>A
  hgvsp: ENSP00000341887.5:p.Met6759Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21228G>A
  hgvsp: ENSP00000390975.1:p.Met7076Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5133G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21441G>A
  hgvsp: ENSP00000356224.5:p.Met7147Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21228G>A
  hgvsp: ENSP00000396024.1:p.Met7076Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5013G>A
  hgvsp: ENSP00000349276.4:p.Met1671Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5025G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21327
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met7147Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

6-152545711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545711
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545711
    reference: chr 6
allele count: 11
allele frequency: 9.065286545466533e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.206T>C
  hgvsp: ENSP00000356220.3:p.Met69Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21440T>C
  hgvsp: ENSP00000265368.4:p.Met7147Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21440T>C
  hgvsp: ENSP00000356224.5:p.Met7147Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5012T>C
  hgvsp: ENSP00000349276.4:p.Met1671Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5024T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21227T>C
  hgvsp: ENSP00000396024.1:p.Met7076Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20276T>C
  hgvsp: ENSP00000341887.5:p.Met6759Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5132T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21227T>C
  hgvsp: ENSP00000390975.1:p.Met7076Thr
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met7147Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

6-152545715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545715
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545715
    reference: chr 6
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5128C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20272C>T
  hgvsp: ENSP00000341887.5:p.Leu6758Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5008C>T
  hgvsp: ENSP00000349276.4:p.Leu1670Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21436C>T
  hgvsp: ENSP00000356224.5:p.Leu7146Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21223C>T
  hgvsp: ENSP00000390975.1:p.Leu7075Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21436C>T
  hgvsp: ENSP00000265368.4:p.Leu7146Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.202C>T
  hgvsp: ENSP00000356220.3:p.Leu68Phe
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5020C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21223C>T
  hgvsp: ENSP00000396024.1:p.Leu7075Phe
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu7146Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

6-152545721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545721
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545721
    reference: chr 6
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20266A>G
  hgvsp: ENSP00000341887.5:p.Ser6756Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21217A>G
  hgvsp: ENSP00000396024.1:p.Ser7073Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21430A>G
  hgvsp: ENSP00000356224.5:p.Ser7144Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5002A>G
  hgvsp: ENSP00000349276.4:p.Ser1668Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21430A>G
  hgvsp: ENSP00000265368.4:p.Ser7144Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21217A>G
  hgvsp: ENSP00000390975.1:p.Ser7073Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.196A>G
  hgvsp: ENSP00000356220.3:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5122A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5014A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7340
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser7144Gly
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

6-152545723-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545723
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545723
    reference: chr 6
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21428A>G
  hgvsp: ENSP00000265368.4:p.Asn7143Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21215A>G
  hgvsp: ENSP00000390975.1:p.Asn7072Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20264A>G
  hgvsp: ENSP00000341887.5:p.Asn6755Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5120A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21215A>G
  hgvsp: ENSP00000396024.1:p.Asn7072Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.5000A>G
  hgvsp: ENSP00000349276.4:p.Asn1667Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21428A>G
  hgvsp: ENSP00000356224.5:p.Asn7143Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.194A>G
  hgvsp: ENSP00000356220.3:p.Asn65Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5012A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn7143Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

6-152545725-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545725
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545725
    reference: chr 6
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4998A>T
  hgvsp: ENST00000356820.4:c.4998A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.192A>T
  hgvsp: ENST00000367251.3:c.192A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5010A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5118A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21213A>T
  hgvsp: ENST00000448038.1:c.21213A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21426A>T
  hgvsp: ENST00000265368.4:c.21426A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21213A>T
  hgvsp: ENST00000423061.1:c.21213A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21426A>T
  hgvsp: ENST00000367255.5:c.21426A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20262A>T
  hgvsp: ENST00000341594.5:c.20262A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7339
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile7142Ile
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

6-152545726-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545726
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545726
    reference: chr 6
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20261T>C
  hgvsp: ENSP00000341887.5:p.Ile6754Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21425T>C
  hgvsp: ENSP00000265368.4:p.Ile7142Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21425T>C
  hgvsp: ENSP00000356224.5:p.Ile7142Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.191T>C
  hgvsp: ENSP00000356220.3:p.Ile64Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4997T>C
  hgvsp: ENSP00000349276.4:p.Ile1666Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.5009T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21212T>C
  hgvsp: ENSP00000396024.1:p.Ile7071Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21212T>C
  hgvsp: ENSP00000390975.1:p.Ile7071Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5117T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7338
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile7142Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

6-152545737-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545737
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545737
    reference: chr 6
allele count: 22
allele frequency: 1.812997544212417e-4
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21414C>T
  hgvsp: ENST00000367255.5:c.21414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.180C>T
  hgvsp: ENST00000367251.3:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21201C>T
  hgvsp: ENST00000423061.1:c.21201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21201C>T
  hgvsp: ENST00000448038.1:c.21201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20250C>T
  hgvsp: ENST00000341594.5:c.20250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4986C>T
  hgvsp: ENST00000356820.4:c.4986C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5106C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21414C>T
  hgvsp: ENST00000265368.4:c.21414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.4998C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6904
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 38425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala7138Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

6-152545737-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545737
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545737
    reference: chr 6
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21414C>G
  hgvsp: ENST00000265368.4:c.21414C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20250C>G
  hgvsp: ENST00000341594.5:c.20250C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21201C>G
  hgvsp: ENST00000423061.1:c.21201C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5106C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.180C>G
  hgvsp: ENST00000367251.3:c.180C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21201C>G
  hgvsp: ENST00000448038.1:c.21201C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21414C>G
  hgvsp: ENST00000367255.5:c.21414C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.4998C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4986C>G
  hgvsp: ENST00000356820.4:c.4986C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala7138Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

6-152545768-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545768
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545768
    reference: chr 6
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.149T>A
  hgvsp: ENSP00000356220.3:p.Val50Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4955T>A
  hgvsp: ENSP00000349276.4:p.Val1652Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21383T>A
  hgvsp: ENSP00000265368.4:p.Val7128Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.4967T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21170T>A
  hgvsp: ENSP00000396024.1:p.Val7057Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20219T>A
  hgvsp: ENSP00000341887.5:p.Val6740Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21383T>A
  hgvsp: ENSP00000356224.5:p.Val7128Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21170T>A
  hgvsp: ENSP00000390975.1:p.Val7057Glu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5075T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val7128Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

6-152545774-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545774
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545774
    reference: chr 6
allele count: 13
allele frequency: 1.071793687959635e-4
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.4961A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21164A>G
  hgvsp: ENSP00000396024.1:p.Lys7055Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.143A>G
  hgvsp: ENSP00000356220.3:p.Lys48Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21377A>G
  hgvsp: ENSP00000265368.4:p.Lys7126Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20213A>G
  hgvsp: ENSP00000341887.5:p.Lys6738Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21164A>G
  hgvsp: ENSP00000390975.1:p.Lys7055Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4949A>G
  hgvsp: ENSP00000349276.4:p.Lys1650Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21377A>G
  hgvsp: ENSP00000356224.5:p.Lys7126Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5069A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys7126Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

6-152545780-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545780
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545780
    reference: chr 6
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21371T>C
  hgvsp: ENSP00000265368.4:p.Leu7124Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5063T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.137T>C
  hgvsp: ENSP00000356220.3:p.Leu46Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21371T>C
  hgvsp: ENSP00000356224.5:p.Leu7124Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21158T>C
  hgvsp: ENSP00000390975.1:p.Leu7053Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.4955T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4943T>C
  hgvsp: ENSP00000349276.4:p.Leu1648Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21158T>C
  hgvsp: ENSP00000396024.1:p.Leu7053Pro
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20207T>C
  hgvsp: ENSP00000341887.5:p.Leu6736Pro
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu7124Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/6-152545806-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545806
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545806
    reference: chr 6
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.118-7T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21352-7T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21139-7T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20188-7T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4924-7T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21139-7T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21352-7T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.4936-7T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5044-7T>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 6.75e1
  variant carriers: 0
hgvs: c.21352-7T>G
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

6-152545819-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545819
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545819
    reference: chr 6
allele count: 1
allele frequency: 8.351009637065121e-6
allele num: 119746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20188-20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.118-20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21352-20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4924-20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.4936-20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21139-20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21139-20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5044-20A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21352-20A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

6-152545821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152545821
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152545821
    reference: chr 6
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000409694
  gene symbol: SYNE1
  hgvsc: ENST00000409694.2:n.4936-22C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356220
  ensembl transcript: ENST00000367251
  gene symbol: SYNE1
  hgvsc: ENST00000367251.3:c.118-22C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.21352-22C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.5044-22C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.21139-22C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.21139-22C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.21352-22C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.20188-22C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.4924-22C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 6960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1626
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38458
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1691
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2865
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.499e0

DP
type: SiteQuality
SIO_000300: 3.26436e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

FS
type: SiteQuality
SIO_000300: 8.183999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.511e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
SIO_000300: 9.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

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

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3232
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1690
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2860
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38458
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.6e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.645e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 3.264397e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2881
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38459
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2904
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6956
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1692
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

DP
type: SiteQuality
SIO_000300: 3.264256e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

QD
type: SiteQuality
SIO_000300: 1.331e1

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

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

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

GenotypeQuality
all individuals: 2904
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2860
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 38458
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6958
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 7.75e1
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: 0
allele frequency: 0.0e0
allele num: 8646
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: 10398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 3.264207e6

QD
type: SiteQuality
SIO_000300: 1.079e1

GenotypeQuality
all individuals: 3231
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 6934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2904
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.729e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.88e0

MQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

DP
type: SiteQuality
SIO_000300: 3.263989e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 1691
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38458
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2860
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 908
num of homozygotes: 0

European (Finnish)
type: Population
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European (Non-Finnish)
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MQ
type: SiteQuality
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VQSLOD
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DP
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 3.456619426201175e-4
allele num: 11572
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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FS
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MQ
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SIO_000300: 5.942e1

MQRankSum
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DP
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SIO_000300: 3.263875e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 1.1447e1

MQRankSum
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SIO_000300: -5.89e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 3.263435e6

ClippingRankSum
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SIO_000300: 4.79e-1

BaseQRankSum
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SIO_000300: -9.28e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
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FS
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.259e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.065e0

ReadPosRankSum
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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FS
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VQSLOD
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QD
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66674
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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Other
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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MQ
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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MQ
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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Other
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Latino
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South Asian
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African
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European (Non-Finnish)
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allele num: 66666
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InbreedingCoeff
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MQ
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FS
type: SiteQuality
SIO_000300: 3.819e0

QD
type: SiteQuality
SIO_000300: 1.119e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 3.25826e6

GenotypeQuality
all individuals: 2818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3121
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
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GenotypeQuality
all individuals: 6504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38275
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1614
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.497318722312894e-4
allele num: 8578
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508566275924256e-5
allele num: 66540
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

FS
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 3.267518e6

QD
type: SiteQuality
SIO_000300: 6.11e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

GenotypeQuality
all individuals: 2818
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 38275
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6504
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2888
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.017132551848512e-5
allele num: 66540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

QD
type: SiteQuality
SIO_000300: 6.11e0

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 3.267518e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38320
bin: 9.75e1
variant carriers: 196

GenotypeQuality
all individuals: 106
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1627
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 326
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2882
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variant carriers: 0

GenotypeQuality
all individuals: 6508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734304543877905e-4
allele num: 11532
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.821799647128014e-4
allele num: 10202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.515518913676043e-3
allele num: 16496
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 151
allele frequency: 1.76154923005133e-2
allele num: 8572
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.504483360414034e-4
allele num: 66468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.005e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.563e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 3.16e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

DP
type: SiteQuality
SIO_000300: 3.273956e6

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6559
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2859
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2848
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 3.253941e6

MQ
type: SiteQuality
SIO_000300: 6.108e1

FS
type: SiteQuality
SIO_000300: 1.648e0

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

GenotypeQuality
all individuals: 2858
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 3152
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 6537
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1615
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38352
bin: 9.75e1
variant carriers: 10

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.50480307396734e-5
allele num: 66624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.329004329004329e-4
allele num: 11550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.3e-2

QD
type: SiteQuality
SIO_000300: 1.239e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 3.25372e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2846
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variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
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variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3134
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
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: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.674e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQRankSum
type: SiteQuality
SIO_000300: -1.027e0

DP
type: SiteQuality
SIO_000300: 3.251618e6

VQSLOD
type: SiteQuality
SIO_000300: -3.858e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 1.454e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

QD
type: SiteQuality
SIO_000300: 1.548e1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2845
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6266
bin: 6.25e1
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GenotypeQuality
all individuals: 3116
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
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variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38348
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.249494e6

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

QD
type: SiteQuality
SIO_000300: 1.367e1

GenotypeQuality
all individuals: 75
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1616
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.8833761612967e-5
allele num: 10118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.521e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.354e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e0

DP
type: SiteQuality
SIO_000300: 3.248826e6

FS
type: SiteQuality
SIO_000300: 3.921e0

QD
type: SiteQuality
SIO_000300: 1.837e1

GenotypeQuality
all individuals: 517
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2843
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6068
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2914
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 2.000970167353869e-3
allele num: 16492
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.311258278145695e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.156606851549756e-4
allele num: 8582
num of homozygotes: 1

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

QD
type: SiteQuality
SIO_000300: 1.59e1

DP
type: SiteQuality
SIO_000300: 3.248506e6

FS
type: SiteQuality
SIO_000300: 7.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.75e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.47e-1

GenotypeQuality
all individuals: 215
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004266057802079e-5
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.914e0

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

FS
type: SiteQuality
SIO_000300: 1.634e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 3.247168e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 1.907e0

DP
type: SiteQuality
SIO_000300: 3.241952e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.752e0

QD
type: SiteQuality
SIO_000300: 1.592e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 415
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variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66416
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.005833836250251e-4
allele num: 9942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.679048776254123e-5
allele num: 11522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.242281e6

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.422e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

GenotypeQuality
all individuals: 611
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1230
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variant carriers: 0

GenotypeQuality
all individuals: 29594
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519433555170632e-5
allele num: 65814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.189e-1

DP
type: SiteQuality
SIO_000300: 1.701108e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.468e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

GenotypeQuality
all individuals: 1442
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1747
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GenotypeQuality
all individuals: 1229
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GenotypeQuality
all individuals: 1967
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 609
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GenotypeQuality
all individuals: 2441
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6990
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518695137138171e-5
allele num: 65846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.199e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

DP
type: SiteQuality
SIO_000300: 1.705583e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 4.688e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6919
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51828009231143e-5
allele num: 65864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.713674e6

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.068e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1236
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.796622097114708e-5
allele num: 11368
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.773e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.71e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.075e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 739
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513179796023364e-5
allele num: 66086
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.75800156128025e-5
allele num: 10248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.829e1

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.915e0

DP
type: SiteQuality
SIO_000300: 1.747014e6

FS
type: SiteQuality
SIO_000300: 3.413e0

VQSLOD
type: SiteQuality
SIO_000300: -8.452e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

GenotypeQuality
all individuals: 6781
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2294
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8766
bin: 9.75e1
variant carriers: 2227

GenotypeQuality
all individuals: 478
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1606
bin: 8.25e1
variant carriers: 5

GenotypeQuality
all individuals: 751
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1855
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 647
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188777936281503e-4
allele num: 8412
num of homozygotes: 0

South Asian
type: Population
allele count: 294
allele frequency: 1.789627465303141e-2
allele num: 16428
num of homozygotes: 6

Other
type: Population
allele count: 13
allele frequency: 1.441241685144124e-2
allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 33
allele frequency: 3.217628705148206e-3
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1716
allele frequency: 2.593085106382979e-2
allele num: 66176
num of homozygotes: 22

Latino
type: Population
allele count: 84
allele frequency: 7.376185458377239e-3
allele num: 11388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 138
allele frequency: 2.102376599634369e-2
allele num: 6564
num of homozygotes: 2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 1.38e1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.781831e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6913
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 37754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7232
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 14
allele frequency: 8.497208060208788e-4
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.383e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 1.777338e6

QD
type: SiteQuality
SIO_000300: 1.375e1

VQSLOD
type: SiteQuality
SIO_000300: 8.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

GenotypeQuality
all individuals: 1171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 1672
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 786
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variant carriers: 0

GenotypeQuality
all individuals: 7240
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variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6910
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.436e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.007e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

FS
type: SiteQuality
SIO_000300: 6.097e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.778289e6

GenotypeQuality
all individuals: 105
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6910
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37845
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.51698839376992e-5
allele num: 66516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.436e1

FS
type: SiteQuality
SIO_000300: 6.097e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.007e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 1.778289e6

GenotypeQuality
all individuals: 6908
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1171
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 7244
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variant carriers: 0

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

GenotypeQuality
all individuals: 1965
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variant carriers: 0

GenotypeQuality
all individuals: 37897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005710850616171e-5
allele num: 66540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.533e1

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 6.417e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

DP
type: SiteQuality
SIO_000300: 1.778928e6

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38048
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7264
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6908
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.33590282644242e-4
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 6.09e1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.196e1

FS
type: SiteQuality
SIO_000300: 6.897e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

DP
type: SiteQuality
SIO_000300: 1.780788e6

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

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6908
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7318
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.75e1
variant carriers: 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: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
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: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.377e0

QD
type: SiteQuality
SIO_000300: 1.485e1

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 6.073e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-1

DP
type: SiteQuality
SIO_000300: 1.785492e6

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6911
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 12
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variant carriers: 0

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

GenotypeQuality
all individuals: 1671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38330
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7325
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 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: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.41e-2

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.449e0

FS
type: SiteQuality
SIO_000300: 1.2841e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.78594e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.699e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 1671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.68e-2

MQRankSum
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FS
type: SiteQuality
SIO_000300: 2.463e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

DP
type: SiteQuality
SIO_000300: 1.785984e6

QD
type: SiteQuality
SIO_000300: 1.717e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

BaseQRankSum
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SIO_000300: -3.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.786371e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

QD
type: SiteQuality
SIO_000300: 1.153e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.805843906189927e-4
allele num: 10404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.404e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

DP
type: SiteQuality
SIO_000300: 1.786615e6

BaseQRankSum
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SIO_000300: -2.197e0

MQRankSum
type: SiteQuality
SIO_000300: -1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 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: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.786519e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.23e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.092e-1

FS
type: SiteQuality
SIO_000300: 3.899e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 157

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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 152
allele frequency: 2.278655593200012e-3
allele num: 66706
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

DP
type: SiteQuality
SIO_000300: 1.794749e6

FS
type: SiteQuality
SIO_000300: 5.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

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

GenotypeQuality
all individuals: 2404
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.36e-2

MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.02e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 3.332e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

DP
type: SiteQuality
SIO_000300: 1.787542e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

East Asian
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allele count: 15
allele frequency: 1.740139211136891e-3
allele num: 8620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
type: Population
allele count: 5
allele frequency: 4.320027648176948e-4
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
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African
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allele count: 34
allele frequency: 3.26734576206035e-3
allele num: 10406
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.0e-3

QD
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MQRankSum
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DP
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: 8.22e-1

DP
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SIO_000300: 1.788167e6

VQSLOD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 8.399999999999999e-3

MQ
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SIO_000300: 5.973e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 5.996282304970918e-5
allele num: 66708
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
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MQ
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SIO_000300: 6.0e1

BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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FS
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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European (Non-Finnish)
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
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Other
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African
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East Asian
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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East Asian
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Other
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

FS
type: SiteQuality
SIO_000300: 6.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.335e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.788166e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

VQSLOD
type: SiteQuality
SIO_000300: -3.636e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.498935755613514e-4
allele num: 66714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 1.789016e6

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.373e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.394e1

DP
type: SiteQuality
SIO_000300: 1.788427e6

FS
type: SiteQuality
SIO_000300: 2.377e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.938e0

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.368e0

FS
type: SiteQuality
SIO_000300: 9.03e-1

MQ
type: SiteQuality
SIO_000300: 5.88e1

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.893e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 1.788326e6

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 8.52e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -2.161e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

DP
type: SiteQuality
SIO_000300: 1.788407e6

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6887
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.46e-1

VQSLOD
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BaseQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.29e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.468e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
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South Asian
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African
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allele count: 20
allele frequency: 1.921968095329617e-3
allele num: 10406
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VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.789961e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.092e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

DP
type: SiteQuality
SIO_000300: 1.789961e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
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variant carriers: 0

GenotypeQuality
all individuals: 6883
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 776
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

FS
type: SiteQuality
SIO_000300: 4.239e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.788188e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1966
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 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: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.649422702054281e-4
allele num: 66690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.376e1

DP
type: SiteQuality
SIO_000300: 1.788638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.437e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.787181e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 8.25e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.415e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

FS
type: SiteQuality
SIO_000300: 2.984e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e0

MQRankSum
type: SiteQuality
SIO_000300: 4.86e-1

DP
type: SiteQuality
SIO_000300: 1.774624e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
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: 65950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.151e1

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.814e0

VQSLOD
type: SiteQuality
SIO_000300: -1.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 9.29e-1

DP
type: SiteQuality
SIO_000300: 1.736328e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3