6-152615269-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615269
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615269
    reference: chr 6
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: C
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.1255-7C>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.17470-7C>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.16519-7C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-7C>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.17683-7C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-7C>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.17683-7C>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.1375-7C>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.17470-7C>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.1267-7C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-7C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.17683-7C>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

6-152615273-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615273
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615273
    reference: chr 6
allele count: 2
allele frequency: 1.676755143446403e-5
allele num: 119278
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.17470-11T>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.1375-11T>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.17683-11T>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.1267-11T>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-11T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-11T>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.1255-11T>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.17683-11T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-11T>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.16519-11T>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.17470-11T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6698
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/6-152615280-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615280
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615280
    reference: chr 6
allele count: 1
allele frequency: 8.437252155717926e-6
allele num: 118522
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.17470-18T>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.1267-18T>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.1375-18T>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-18T>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.1255-18T>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.16519-18T>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.17683-18T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-18T>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-18T>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.17470-18T>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.17683-18T>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

6-152615280-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615280
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615280
    reference: chr 6
allele count: 3
allele frequency: 2.531175646715378e-5
allele num: 118522
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.17470-18T>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.17683-18T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-18T>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.1375-18T>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.1267-18T>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.17683-18T>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.16519-18T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-18T>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.1255-18T>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.17470-18T>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-18T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

6-152615281-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615281
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615281
    reference: chr 6
allele count: 1
allele frequency: 8.446373971653969e-6
allele num: 118394
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.1267-19C>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.1255-19C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-19C>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.16519-19C>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.17470-19C>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.17683-19C>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.1375-19C>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.17470-19C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-19C>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.17683-19C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-19C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

6-152615284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615284
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615284
    reference: chr 6
allele count: 5
allele frequency: 4.235278173070407e-5
allele num: 118056
alternate allele: C
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.1375-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-22A>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.16519-22A>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.1267-22A>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.17683-22A>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-22A>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-22A>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.1255-22A>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.17470-22A>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.17470-22A>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.17683-22A>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6378
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

6-152615286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615286
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615286
    reference: chr 6
allele count: 2
allele frequency: 1.697965836927361e-5
allele num: 117788
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.1255-24C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-24C>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.17470-24C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-24C>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.16519-24C>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.17470-24C>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.17683-24C>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.1267-24C>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.17683-24C>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.1375-24C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-24C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22457
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

6-152615290-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615290
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615290
    reference: chr 6
allele count: 2
allele frequency: 1.703113291096124e-5
allele num: 117432
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.1267-28A>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.17470-28A>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-28A>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.17683-28A>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.17470-28A>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.16519-28A>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.1255-28A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-28A>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.17683-28A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-28A>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.1375-28A>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4658
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20183
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

6-152615293-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615293
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615293
    reference: chr 6
allele count: 3
allele frequency: 2.564628641772671e-5
allele num: 116976
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.17683-31T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-31T>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.1267-31T>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.17470-31T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-31T>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.17470-31T>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.16519-31T>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.17683-31T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1375-31T>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-31T>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.1255-31T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

6-152615298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615298
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615298
    reference: chr 6
allele count: 1
allele frequency: 8.565603960735272e-6
allele num: 116746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.16519-36T>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.17683-36T>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.17470-36T>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.17470-36T>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.1255-36T>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.17683-36T>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.1375-36T>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-36T>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.1267-36T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-36T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-36T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

6-152615300-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615300
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615300
    reference: chr 6
allele count: 3
allele frequency: 2.577939710583302e-5
allele num: 116372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.17683-38C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-38C>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.1375-38C>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.17470-38C>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.17683-38C>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.17470-38C>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.1267-38C>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.1255-38C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-38C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-38C>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.16519-38C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12640
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13394
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5630
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

6-152615311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615311
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615311
    reference: chr 6
allele count: 2
allele frequency: 1.763544018058691e-5
allele num: 113408
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.17683-49C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-49C>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.1375-49C>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.17470-49C>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.16519-49C>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.17683-49C>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.1267-49C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-49C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-49C>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.1255-49C>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.17470-49C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11682
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

6-152615311-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615311
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615311
    reference: chr 6
allele count: 1
allele frequency: 8.817720090293453e-6
allele num: 113408
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.1267-49C>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.17470-49C>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.1375-49C>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.17683-49C>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.16519-49C>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.1255-49C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-49C>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.17470-49C>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.17683-49C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-49C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-49C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

6-152615314-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152615314
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152615314
    reference: chr 6
allele count: 5
allele frequency: 4.467317108037597e-5
allele num: 111924
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.17470-52A>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.17683-52A>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.17683-52A>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.402-52A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.208-52A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.349-52A>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.1375-52A>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.1267-52A>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.17470-52A>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.1255-52A>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.16519-52A>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16240
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

6-152621732-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621732
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621732
    reference: chr 6
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.17469+44A>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.17682+44A>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1272A>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.1374+44A>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.17682+44A>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.16518+44A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1272A>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.1266+44A>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.1254+44A>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.17469+44A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.348+44A>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

6-152621736-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621736
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621736
    reference: chr 6
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000341887
  ensembl transcript: ENST00000341594
  gene symbol: SYNE1
  hgvsc: ENST00000341594.5:c.16518+40G>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.1266+40G>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.17682+40G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1374+40G>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.1254+40G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1268G>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1268G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.348+40G>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.17469+40G>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.17469+40G>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.17682+40G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

6-152621740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621740
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621740
    reference: chr 6
allele count: 27
allele frequency: 2.226290011378815e-4
allele num: 121278
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.17682+36C>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.1254+36C>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.17469+36C>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.1374+36C>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.17469+36C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1264C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1264C>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.16518+36C>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.1266+36C>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.17682+36C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.348+36C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11691
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8217
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12893
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

6-152621755-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621755
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621755
    reference: chr 6
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.1254+21C>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.17682+21C>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1374+21C>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.17469+21C>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.16518+21C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1249C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1249C>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.1266+21C>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.17469+21C>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.348+21C>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.17682+21C>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

6-152621760-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621760
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621760
    reference: chr 6
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
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.1374+16C>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.17469+16C>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.1254+16C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.348+16C>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.17682+16C>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.17682+16C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1244C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1244C>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.1266+16C>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.17469+16C>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.16518+16C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13147
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3394
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

6-152621764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621764
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621764
    reference: chr 6
allele count: 5
allele frequency: 4.121875618281343e-5
allele num: 121304
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.1254+12T>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.17469+12T>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.17682+12T>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.17469+12T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.348+12T>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1240T>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.1374+12T>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.17682+12T>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1240T>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.1266+12T>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.16518+12T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

6-152621764-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621764
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621764
    reference: chr 6
allele count: 3
allele frequency: 2.473125370968806e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.17682+12T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1240T>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.1266+12T>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1240T>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.17469+12T>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.1254+12T>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.17469+12T>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.17682+12T>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.16518+12T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1374+12T>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.348+12T>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

6-152621785-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621785
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621784
    reference: chr 6
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1218delC
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.338delC
  hgvsp: ENSP00000443879.1:p.Ser113LeufsTer57
  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.17459delC
  hgvsp: ENSP00000396024.1:p.Ser5820LeufsTer57
  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.16508delC
  hgvsp: ENSP00000341887.5:p.Ser5503LeufsTer57
  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.1364delC
  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.1256delC
  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.17672delC
  hgvsp: ENSP00000356224.5:p.Ser5891LeufsTer57
  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.17672delC
  hgvsp: ENSP00000265368.4:p.Ser5891LeufsTer57
  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.17459delC
  hgvsp: ENSP00000390975.1:p.Ser5820LeufsTer57
  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.1244delC
  hgvsp: ENSP00000349276.4:p.Ser415LeufsTer57
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1218delC
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5891LeufsTer57
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: AG
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/6-152621790-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621790
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621790
    reference: chr 6
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.17668G>T
  hgvsp: ENSP00000265368.4:p.Ala5890Ser
  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.17455G>T
  hgvsp: ENSP00000396024.1:p.Ala5819Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1214G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1214G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.334G>T
  hgvsp: ENSP00000443879.1:p.Ala112Ser
  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.1360G>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.16504G>T
  hgvsp: ENSP00000341887.5:p.Ala5502Ser
  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.1240G>T
  hgvsp: ENSP00000349276.4:p.Ala414Ser
  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.1252G>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.17455G>T
  hgvsp: ENSP00000390975.1:p.Ala5819Ser
  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.17668G>T
  hgvsp: ENSP00000356224.5:p.Ala5890Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5890Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

6-152621792-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621792
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621792
    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.16502A>T
  hgvsp: ENSP00000341887.5:p.Asp5501Val
  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.1250A>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.332A>T
  hgvsp: ENSP00000443879.1:p.Asp111Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1212A>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.17453A>T
  hgvsp: ENSP00000396024.1:p.Asp5818Val
  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.17666A>T
  hgvsp: ENSP00000356224.5:p.Asp5889Val
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1212A>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.17453A>T
  hgvsp: ENSP00000390975.1:p.Asp5818Val
  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.1358A>T
  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.17666A>T
  hgvsp: ENSP00000265368.4:p.Asp5889Val
  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.1238A>T
  hgvsp: ENSP00000349276.4:p.Asp413Val
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp5889Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

6-152621802-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621802
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621802
    reference: chr 6
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
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.1228G>A
  hgvsp: ENSP00000349276.4:p.Ala410Thr
  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.1348G>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1202G>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.17443G>A
  hgvsp: ENSP00000390975.1:p.Ala5815Thr
  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.1240G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.322G>A
  hgvsp: ENSP00000443879.1:p.Ala108Thr
  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.17656G>A
  hgvsp: ENSP00000265368.4:p.Ala5886Thr
  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.17656G>A
  hgvsp: ENSP00000356224.5:p.Ala5886Thr
  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.16492G>A
  hgvsp: ENSP00000341887.5:p.Ala5498Thr
  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.17443G>A
  hgvsp: ENSP00000396024.1:p.Ala5815Thr
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1202G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13546
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala5886Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

6-152621807-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621807
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621807
    reference: chr 6
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
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.17438C>G
  hgvsp: ENSP00000390975.1:p.Pro5813Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1197C>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.17438C>G
  hgvsp: ENSP00000396024.1:p.Pro5813Arg
  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.1343C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.317C>G
  hgvsp: ENSP00000443879.1:p.Pro106Arg
  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.1223C>G
  hgvsp: ENSP00000349276.4:p.Pro408Arg
  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.16487C>G
  hgvsp: ENSP00000341887.5:p.Pro5496Arg
  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.1235C>G
  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.17651C>G
  hgvsp: ENSP00000356224.5:p.Pro5884Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1197C>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.17651C>G
  hgvsp: ENSP00000265368.4:p.Pro5884Arg
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5884Arg
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

6-152621808-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621808
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621808
    reference: chr 6
allele count: 10
allele frequency: 8.240490473993012e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.1222C>T
  hgvsp: ENSP00000349276.4:p.Pro408Ser
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.316C>T
  hgvsp: ENSP00000443879.1:p.Pro106Ser
  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.17650C>T
  hgvsp: ENSP00000265368.4:p.Pro5884Ser
  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.17437C>T
  hgvsp: ENSP00000390975.1:p.Pro5813Ser
  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.1342C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1196C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1196C>T
  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.17650C>T
  hgvsp: ENSP00000356224.5:p.Pro5884Ser
  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.1234C>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.17437C>T
  hgvsp: ENSP00000396024.1:p.Pro5813Ser
  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.16486C>T
  hgvsp: ENSP00000341887.5:p.Pro5496Ser
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5884Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

6-152621818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621818
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621818
    reference: chr 6
allele count: 41
allele frequency: 3.379158012725415e-4
allele num: 121332
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.1212C>T
  hgvsp: ENST00000356820.4:c.1212C>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.17427C>T
  hgvsp: ENST00000423061.1:c.17427C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.306C>T
  hgvsp: ENST00000537033.1:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1186C>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.1224C>T
  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.16476C>T
  hgvsp: ENST00000341594.5:c.16476C>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.17427C>T
  hgvsp: ENST00000448038.1:c.17427C>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.1332C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1186C>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.17640C>T
  hgvsp: ENST00000265368.4:c.17640C>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.17640C>T
  hgvsp: ENST00000367255.5:c.17640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13680
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5880Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/6-152621819-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621819
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621819
    reference: chr 6
allele count: 12
allele frequency: 9.890707680134513e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.17639G>T
  hgvsp: ENSP00000356224.5:p.Arg5880Leu
  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.17426G>T
  hgvsp: ENSP00000396024.1:p.Arg5809Leu
  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.1331G>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.1223G>T
  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.17639G>T
  hgvsp: ENSP00000265368.4:p.Arg5880Leu
  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.16475G>T
  hgvsp: ENSP00000341887.5:p.Arg5492Leu
  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.17426G>T
  hgvsp: ENSP00000390975.1:p.Arg5809Leu
  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.1211G>T
  hgvsp: ENSP00000349276.4:p.Arg404Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1185G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1185G>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.305G>T
  hgvsp: ENSP00000443879.1:p.Arg102Leu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13700
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5880Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-152621819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621819
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621819
    reference: chr 6
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1185G>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.17426G>A
  hgvsp: ENSP00000390975.1:p.Arg5809His
  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.17639G>A
  hgvsp: ENSP00000356224.5:p.Arg5880His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.305G>A
  hgvsp: ENSP00000443879.1:p.Arg102His
  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.16475G>A
  hgvsp: ENSP00000341887.5:p.Arg5492His
  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.17426G>A
  hgvsp: ENSP00000396024.1:p.Arg5809His
  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.17639G>A
  hgvsp: ENSP00000265368.4:p.Arg5880His
  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.1331G>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.1211G>A
  hgvsp: ENSP00000349276.4:p.Arg404His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1185G>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.1223G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5880His
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

6-152621820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621820
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621820
    reference: chr 6
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000356224
  ensembl transcript: ENST00000367255
  gene symbol: SYNE1
  hgvsc: ENST00000367255.5:c.17638C>T
  hgvsp: ENSP00000356224.5:p.Arg5880Cys
  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.1210C>T
  hgvsp: ENSP00000349276.4:p.Arg404Cys
  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.1330C>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.17425C>T
  hgvsp: ENSP00000390975.1:p.Arg5809Cys
  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.1222C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.304C>T
  hgvsp: ENSP00000443879.1:p.Arg102Cys
  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.17425C>T
  hgvsp: ENSP00000396024.1:p.Arg5809Cys
  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.17638C>T
  hgvsp: ENSP00000265368.4:p.Arg5880Cys
  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.16474C>T
  hgvsp: ENSP00000341887.5:p.Arg5492Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1184C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1184C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5880Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

6-152621829-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621829
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621829
    reference: chr 6
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
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.17629C>G
  hgvsp: ENSP00000356224.5:p.Pro5877Ala
  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.1201C>G
  hgvsp: ENSP00000349276.4:p.Pro401Ala
  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.1213C>G
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1175C>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.1321C>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.17416C>G
  hgvsp: ENSP00000390975.1:p.Pro5806Ala
  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.17629C>G
  hgvsp: ENSP00000265368.4:p.Pro5877Ala
  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.17416C>G
  hgvsp: ENSP00000396024.1:p.Pro5806Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.295C>G
  hgvsp: ENSP00000443879.1:p.Pro99Ala
  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.16465C>G
  hgvsp: ENSP00000341887.5:p.Pro5489Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1175C>G
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro5877Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ

6-152621830-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621830
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621830
    reference: chr 6
allele count: 76
allele frequency: 6.349524621117182e-4
allele num: 119694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.17628A>C
  hgvsp: ENST00000265368.4:c.17628A>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.1320A>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.17628A>C
  hgvsp: ENST00000367255.5:c.17628A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1174A>C
  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.17415A>C
  hgvsp: ENST00000448038.1:c.17415A>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.1200A>C
  hgvsp: ENST00000356820.4:c.1200A>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.16464A>C
  hgvsp: ENST00000341594.5:c.16464A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.294A>C
  hgvsp: ENST00000537033.1:c.294A>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.1212A>C
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1174A>C
  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.17415A>C
  hgvsp: ENST00000423061.1:c.17415A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12056
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 5282
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Pro5876Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

6-152621831-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621831
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621831
    reference: chr 6
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
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.17627C>A
  hgvsp: ENSP00000265368.4:p.Pro5876Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1173C>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.16463C>A
  hgvsp: ENSP00000341887.5:p.Pro5488Gln
  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.17414C>A
  hgvsp: ENSP00000390975.1:p.Pro5805Gln
  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.1199C>A
  hgvsp: ENSP00000349276.4:p.Pro400Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1173C>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.17627C>A
  hgvsp: ENSP00000356224.5:p.Pro5876Gln
  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.17414C>A
  hgvsp: ENSP00000396024.1:p.Pro5805Gln
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.293C>A
  hgvsp: ENSP00000443879.1:p.Pro98Gln
  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.1319C>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.1211C>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5876Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

6-152621833-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621833
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621833
    reference: chr 6
allele count: 4
allele frequency: 3.296467834715103e-5
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.17412T>C
  hgvsp: ENST00000448038.1:c.17412T>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.1197T>C
  hgvsp: ENST00000356820.4:c.1197T>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.16461T>C
  hgvsp: ENST00000341594.5:c.16461T>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.17625T>C
  hgvsp: ENST00000265368.4:c.17625T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1171T>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.17625T>C
  hgvsp: ENST00000367255.5:c.17625T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.291T>C
  hgvsp: ENST00000537033.1:c.291T>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.1209T>C
  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.17412T>C
  hgvsp: ENST00000423061.1:c.17412T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1171T>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1317T>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8302
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12163
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser5875Ser
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

6-152621848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621848
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621848
    reference: chr 6
allele count: 4
allele frequency: 3.295924589245398e-5
allele num: 121362
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.1182C>T
  hgvsp: ENST00000356820.4:c.1182C>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.17610C>T
  hgvsp: ENST00000265368.4:c.17610C>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.1302C>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.1194C>T
  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.16446C>T
  hgvsp: ENST00000341594.5:c.16446C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.276C>T
  hgvsp: ENST00000537033.1:c.276C>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.17610C>T
  hgvsp: ENST00000367255.5:c.17610C>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.17397C>T
  hgvsp: ENST00000423061.1:c.17397C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1156C>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.17397C>T
  hgvsp: ENST00000448038.1:c.17397C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1156C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn5870Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-152621856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621856
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621856
    reference: chr 6
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
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.1186G>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.16438G>A
  hgvsp: ENSP00000341887.5:p.Gly5480Arg
  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.1174G>A
  hgvsp: ENSP00000349276.4:p.Gly392Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1148G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.268G>A
  hgvsp: ENSP00000443879.1:p.Gly90Arg
  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.17602G>A
  hgvsp: ENSP00000356224.5:p.Gly5868Arg
  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.17389G>A
  hgvsp: ENSP00000396024.1:p.Gly5797Arg
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1148G>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.1294G>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.17602G>A
  hgvsp: ENSP00000265368.4:p.Gly5868Arg
  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.17389G>A
  hgvsp: ENSP00000390975.1:p.Gly5797Arg
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly5868Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/6-152621857-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621857
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621857
    reference: chr 6
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000349276
  ensembl transcript: ENST00000356820
  gene symbol: SYNE1
  hgvsc: ENST00000356820.4:c.1173G>T
  hgvsp: ENSP00000349276.4:p.Glu391Asp
  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.17388G>T
  hgvsp: ENSP00000390975.1:p.Glu5796Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1147G>T
  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.17601G>T
  hgvsp: ENSP00000356224.5:p.Glu5867Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.267G>T
  hgvsp: ENSP00000443879.1:p.Glu89Asp
  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.1293G>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.17388G>T
  hgvsp: ENSP00000396024.1:p.Glu5796Asp
  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.17601G>T
  hgvsp: ENSP00000265368.4:p.Glu5867Asp
  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.16437G>T
  hgvsp: ENSP00000341887.5:p.Glu5479Asp
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1147G>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.1185G>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu5867Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

6-152621857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621857
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621857
    reference: chr 6
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000265368
  ensembl transcript: ENST00000265368
  gene symbol: SYNE1
  hgvsc: ENST00000265368.4:c.17601G>A
  hgvsp: ENST00000265368.4:c.17601G>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.1173G>A
  hgvsp: ENST00000356820.4:c.1173G>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.16437G>A
  hgvsp: ENST00000341594.5:c.16437G>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.1185G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1147G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.267G>A
  hgvsp: ENST00000537033.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1147G>A
  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.17388G>A
  hgvsp: ENST00000448038.1:c.17388G>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.17601G>A
  hgvsp: ENST00000367255.5:c.17601G>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.17388G>A
  hgvsp: ENST00000423061.1:c.17388G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1293G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu5867Glu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

6-152621861-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621861
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621861
    reference: chr 6
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.263A>C
  hgvsp: ENSP00000443879.1:p.Glu88Ala
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1143A>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1289A>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.17384A>C
  hgvsp: ENSP00000390975.1:p.Glu5795Ala
  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.17597A>C
  hgvsp: ENSP00000356224.5:p.Glu5866Ala
  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.17384A>C
  hgvsp: ENSP00000396024.1:p.Glu5795Ala
  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.17597A>C
  hgvsp: ENSP00000265368.4:p.Glu5866Ala
  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.1169A>C
  hgvsp: ENSP00000349276.4:p.Glu390Ala
  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.16433A>C
  hgvsp: ENSP00000341887.5:p.Glu5478Ala
  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.1181A>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1143A>C
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu5866Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

6-152621872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621872
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621872
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000396024
  ensembl transcript: ENST00000423061
  gene symbol: SYNE1
  hgvsc: ENST00000423061.1:c.17373G>A
  hgvsp: ENST00000423061.1:c.17373G>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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1278G>A
  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.17586G>A
  hgvsp: ENST00000367255.5:c.17586G>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.16422G>A
  hgvsp: ENST00000341594.5:c.16422G>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.17586G>A
  hgvsp: ENST00000265368.4:c.17586G>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.17373G>A
  hgvsp: ENST00000448038.1:c.17373G>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.1170G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.252G>A
  hgvsp: ENST00000537033.1:c.252G>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.1158G>A
  hgvsp: ENST00000356820.4:c.1158G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1132G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1132G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu5862Glu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

6-152621881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621881
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621881
    reference: chr 6
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000390975
  ensembl transcript: ENST00000448038
  gene symbol: SYNE1
  hgvsc: ENST00000448038.1:c.17364G>A
  hgvsp: ENST00000448038.1:c.17364G>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.1161G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.243G>A
  hgvsp: ENST00000537033.1:c.243G>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.1149G>A
  hgvsp: ENST00000356820.4:c.1149G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1123G>A
  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.16413G>A
  hgvsp: ENST00000341594.5:c.16413G>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.17577G>A
  hgvsp: ENST00000265368.4:c.17577G>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.17577G>A
  hgvsp: ENST00000367255.5:c.17577G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1123G>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.1269G>A
  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.17364G>A
  hgvsp: ENST00000423061.1:c.17364G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5859Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

6-152621882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621882
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621882
    reference: chr 6
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
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.16412C>T
  hgvsp: ENSP00000341887.5:p.Pro5471Leu
  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.1268C>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.1160C>T
  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.17576C>T
  hgvsp: ENSP00000265368.4:p.Pro5859Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1122C>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: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1122C>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.17363C>T
  hgvsp: ENSP00000390975.1:p.Pro5788Leu
  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.17576C>T
  hgvsp: ENSP00000356224.5:p.Pro5859Leu
  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.17363C>T
  hgvsp: ENSP00000396024.1:p.Pro5788Leu
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.242C>T
  hgvsp: ENSP00000443879.1:p.Pro81Leu
  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.1148C>T
  hgvsp: ENSP00000349276.4:p.Pro383Leu
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro5859Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

6-152621896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621896
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621896
    reference: chr 6
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
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.16398C>T
  hgvsp: ENST00000341594.5:c.16398C>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.1134C>T
  hgvsp: ENST00000356820.4:c.1134C>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.17562C>T
  hgvsp: ENST00000265368.4:c.17562C>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.1146C>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.1254C>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.17562C>T
  hgvsp: ENST00000367255.5:c.17562C>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.17349C>T
  hgvsp: ENST00000448038.1:c.17349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.228C>T
  hgvsp: ENST00000537033.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1108C>T
  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.17349C>T
  hgvsp: ENST00000423061.1:c.17349C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1108C>T
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His5854His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

6-152621903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621903
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621903
    reference: chr 6
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
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.17555G>A
  hgvsp: ENSP00000356224.5:p.Arg5852His
  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.1247G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.221G>A
  hgvsp: ENSP00000443879.1:p.Arg74His
  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.17555G>A
  hgvsp: ENSP00000265368.4:p.Arg5852His
  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.1139G>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.17342G>A
  hgvsp: ENSP00000396024.1:p.Arg5781His
  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.16391G>A
  hgvsp: ENSP00000341887.5:p.Arg5464His
  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.17342G>A
  hgvsp: ENSP00000390975.1:p.Arg5781His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1101G>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.1127G>A
  hgvsp: ENSP00000349276.4:p.Arg376His
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1101G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg5852His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

6-152621904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621904
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621904
    reference: chr 6
allele count: 3
allele frequency: 2.472147142197904e-5
allele num: 121352
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.1246C>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.17341C>T
  hgvsp: ENSP00000390975.1:p.Arg5781Cys
  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.17554C>T
  hgvsp: ENSP00000265368.4:p.Arg5852Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1100C>T
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.220C>T
  hgvsp: ENSP00000443879.1:p.Arg74Cys
  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.1138C>T
  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.17554C>T
  hgvsp: ENSP00000356224.5:p.Arg5852Cys
  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.17341C>T
  hgvsp: ENSP00000396024.1:p.Arg5781Cys
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1100C>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.16390C>T
  hgvsp: ENSP00000341887.5:p.Arg5464Cys
  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.1126C>T
  hgvsp: ENSP00000349276.4:p.Arg376Cys
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg5852Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

6-152621914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 152621914
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 152621914
    reference: chr 6
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: T
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.17544G>A
  hgvsp: ENSP00000265368.4:p.Met5848Ile
  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.17544G>A
  hgvsp: ENSP00000356224.5:p.Met5848Ile
  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.17331G>A
  hgvsp: ENSP00000396024.1:p.Met5777Ile
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl transcript: ENST00000489156
  gene symbol: SYNE1
  hgvsc: ENST00000489156.1:n.401+1090G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000443879
  ensembl transcript: ENST00000537033
  gene symbol: SYNE1
  hgvsc: ENST00000537033.1:c.210G>A
  hgvsp: ENSP00000443879.1:p.Met70Ile
  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.1128G>A
  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.17331G>A
  hgvsp: ENSP00000390975.1:p.Met5777Ile
  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.16380G>A
  hgvsp: ENSP00000341887.5:p.Met5460Ile
  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.1116G>A
  hgvsp: ENSP00000349276.4:p.Met372Ile
  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: ENST00000367256
  gene symbol: SYNE1
  hgvsc: ENST00000367256.5:n.1236G>A
  variant of: http://identifiers.org/hgnc/17089
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131018
  ensembl protein: ENSP00000437411
  ensembl transcript: ENST00000540663
  gene symbol: SYNE1
  hgvsc: ENST00000540663.1:c.207+1090G>A
  variant of: http://identifiers.org/hgnc/17089
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met5848Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

7-7493165-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7493165
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7493165
    reference: chr 7
allele count: 1
allele frequency: 8.957042026441188e-6
allele num: 111644
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1372-26C>G
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*560-26C>G
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6370
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

7-7495627-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495627
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495627
    reference: chr 7
allele count: 1
allele frequency: 8.349196807267141e-6
allele num: 119772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+48C>G
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+48C>G
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.509297271190534e-5
  allele num: 66256
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-7495630-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495630
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495630
    reference: chr 7
allele count: 5
allele frequency: 4.173901429143849e-5
allele num: 119792
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+45G>A
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+45G>A
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11694
  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9388
  bin: 9.75e1
  variant carriers: 5
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16278
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-7495632-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495632
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495632
    reference: chr 7
allele count: 1
allele frequency: 8.341814177747376e-6
allele num: 119878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+43C>G
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+43C>G
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12225
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6592
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

7-7495640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495640
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495640
    reference: chr 7
allele count: 3
allele frequency: 2.5e-5
allele num: 120000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+35G>A
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+35G>A
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9400
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9744
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

7-7495645-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495645
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495645
    reference: chr 7
allele count: 8
allele frequency: 6.661337596589395e-5
allele num: 120096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+30G>A
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+30G>A
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66418
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

7-7495647-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495647
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495647
    reference: chr 7
allele count: 4
allele frequency: 3.329726130025805e-5
allele num: 120130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+28C>T
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+28C>T
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66422
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD

7-7495647-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495647
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495647
    reference: chr 7
allele count: 1
allele frequency: 8.324315325064513e-6
allele num: 120130
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+28C>A
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+28C>A
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.25e1
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 890
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/7-7495648-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495648
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495648
    reference: chr 7
allele count: 1
allele frequency: 8.322652595835345e-6
allele num: 120154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+27T>G
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+27T>G
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 238
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9758
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

7-7495650-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495650
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495650
    reference: chr 7
allele count: 1
allele frequency: 8.320713584396998e-6
allele num: 120182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+25C>A
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+25C>A
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8620
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
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site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

7-7495651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495651
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495651
    reference: chr 7
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+24C>T
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+24C>T
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66456
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-7495659-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495659
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495659
    reference: chr 7
allele count: 1
allele frequency: 8.310617645103384e-6
allele num: 120328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+16T>G
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+16T>G
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 455
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1985
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 28019
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16422
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

7-7495662-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495662
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495662
    reference: chr 7
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+13T>A
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+13T>A
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.704735376044568e-5
  allele num: 11488
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

7-7495663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495663
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495663
    reference: chr 7
allele count: 2
allele frequency: 1.661157162079104e-5
allele num: 120398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+12A>G
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+12A>G
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9780
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

7-7495664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495664
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495664
    reference: chr 7
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+11C>T
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+11C>T
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8624
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-7495665-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495665
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495665
    reference: chr 7
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+10G>T
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+10G>T
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9448
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28163
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.501997656883655e-5
  allele num: 66578
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-7495669-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495669
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495669
    reference: chr 7
allele count: 1
allele frequency: 8.302337938363443e-6
allele num: 120448
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1371+6T>A
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*559+6T>A
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 8.25e1
  variant carriers: 0
hgvs: c.1371+6T>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

7-7495676-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495676
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495676
    reference: chr 7
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*558A>T
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1370A>T
  hgvsp: ENSP00000382356.3:p.Gln457Leu
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 361
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln457Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

7-7495684-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495684
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495684
    reference: chr 7
allele count: 8
allele frequency: 6.633279161553514e-5
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*550A>T
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1362A>T
  hgvsp: ENSP00000382356.3:p.Gln454His
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1380
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  variant carriers: 0
hgvs: p.Gln454His
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 8
  allele frequency: 4.85319097306479e-4
  allele num: 16484
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

7-7495691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495691
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495691
    reference: chr 7
allele count: 1
allele frequency: 8.289811821271656e-6
allele num: 120630
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1355G>A
  hgvsp: ENSP00000382356.3:p.Gly452Glu
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*543G>A
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9482
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 28634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly452Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.065752759917505e-5
  allele num: 16486
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-7495692-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495692
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495692
    reference: chr 7
allele count: 59
allele frequency: 4.89082679841504e-4
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1354G>T
  hgvsp: ENSP00000382356.3:p.Gly452Trp
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*542G>T
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18338
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2000
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
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genotype quality: GenotypeQuality
  all individuals: 9518
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 28625
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly452Trp
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.665511265164645e-5
  allele num: 11540
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

7-7495692-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495692
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495692
    reference: chr 7
allele count: 7
allele frequency: 5.802675862526319e-5
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*542G>A
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1354G>A
  hgvsp: ENSP00000382356.3:p.Gly452Arg
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28625
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9518
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8844
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly452Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16488
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

7-7495693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495693
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495693
    reference: chr 7
allele count: 1
allele frequency: 8.289949265510494e-6
allele num: 120628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*541C>T
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1353C>T
  hgvsp: ENST00000399429.3:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile451Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16488
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-7495696-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 7495696
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 7495696
    reference: chr 7
allele count: 4
allele frequency: 3.315649867374005e-5
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000408401
  ensembl transcript: ENST00000444268
  gene symbol: COL28A1
  hgvsc: ENST00000444268.1:c.*538A>G
  variant of: http://identifiers.org/hgnc/22442
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000215018
  ensembl protein: ENSP00000382356
  ensembl transcript: ENST00000399429
  gene symbol: COL28A1
  hgvsc: ENST00000399429.3:c.1350A>G
  hgvsp: ENST00000399429.3:c.1350A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22442
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly450Gly
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 27788
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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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: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.805844283192783e-5
allele num: 10198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

QD
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SIO_000300: 1.676e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.87826e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 785
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65650
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.349624060150376e-4
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 7.467e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.23e-1

DP
type: SiteQuality
SIO_000300: 1.853828e6

QD
type: SiteQuality
SIO_000300: 1.284e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533648242439114e-5
allele num: 65204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.394e1

DP
type: SiteQuality
SIO_000300: 1.799283e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.259e0

FS
type: SiteQuality
SIO_000300: 2.979e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

GenotypeQuality
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bin: 8.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 6352
bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.786352268667381e-4
allele num: 11196
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.259e0

FS
type: SiteQuality
SIO_000300: 2.979e0

QD
type: SiteQuality
SIO_000300: 1.394e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.799283e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535155050660117e-5
allele num: 65140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16162
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.125e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

QD
type: SiteQuality
SIO_000300: 1.723e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53950366401872e-5
allele num: 64956
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.985651654045437e-4
allele num: 10036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.405e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.749537e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 494
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.085657862256233e-5
allele num: 64816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 1.4506e1

MQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.135e0

BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.720037e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.704e1

GenotypeQuality
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bin: 7.25e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 26740
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

African
type: Population
allele count: 0
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: 8308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.094442381482857e-5
allele num: 64632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.658811e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.942e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.182e0

FS
type: SiteQuality
SIO_000300: 4.032e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

QD
type: SiteQuality
SIO_000300: 5.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.864e0

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 997
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6325
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variant carriers: 3

GenotypeQuality
all individuals: 485
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.01450443190975e-4
allele num: 9928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

QD
type: SiteQuality
SIO_000300: 1.25e1

MQRankSum
type: SiteQuality
SIO_000300: -1.209e0

DP
type: SiteQuality
SIO_000300: 1.566104e6

FS
type: SiteQuality
SIO_000300: 2.499e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.269592476489028e-5
allele num: 15950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

FS
type: SiteQuality
SIO_000300: 4.075e0

MQRankSum
type: SiteQuality
SIO_000300: -1.228e0

DP
type: SiteQuality
SIO_000300: 1.533593e6

QD
type: SiteQuality
SIO_000300: 9.07e0

VQSLOD
type: SiteQuality
SIO_000300: -3.623e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1269
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.82848784055586e-4
allele num: 10938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560208443848098e-5
allele num: 64094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.507443e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.898e-1

FS
type: SiteQuality
SIO_000300: 6.904e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 2.233e1

GenotypeQuality
all individuals: 3907
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3730
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variant carriers: 0

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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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
all individuals: 1205
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.878287002253945e-4
allele num: 10648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.423533e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

QD
type: SiteQuality
SIO_000300: 9.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.259e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.425083526085839e-5
allele num: 15564
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.423533e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
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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: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.11108948153916e-5
allele num: 61644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15462
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

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

BaseQRankSum
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SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
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: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.73e-1

BaseQRankSum
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SIO_000300: 2.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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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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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: 6608
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.506e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -4.58e-1

DP
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SIO_000300: 2.394099e6

VQSLOD
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SIO_000300: -2.03e0

FS
type: SiteQuality
SIO_000300: 6.091e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 2.293e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 23
allele frequency: 3.449103233159379e-4
allele num: 66684
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

InbreedingCoeff
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SIO_000300: -4.0e-4

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.3e1

BaseQRankSum
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SIO_000300: -2.763e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.18e-1

ClippingRankSum
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MQ
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QD
type: SiteQuality
SIO_000300: 8.07e0

FS
type: SiteQuality
SIO_000300: 8.2e-1

DP
type: SiteQuality
SIO_000300: 2.404116e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
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allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: -3.265e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.83e-1

FS
type: SiteQuality
SIO_000300: 3.799e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 7.48e0

DP
type: SiteQuality
SIO_000300: 2.405946e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 180
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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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

African
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allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

Other
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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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South Asian
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allele frequency: 1.819063788503517e-4
allele num: 16492
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ReadPosRankSum
type: SiteQuality
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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European (Finnish)
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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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Latino
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African
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MQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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allele count: 1
allele frequency: 9.619084263178146e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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European (Finnish)
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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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South Asian
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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DP
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VQSLOD
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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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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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Latino
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African
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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VQSLOD
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MQ
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FS
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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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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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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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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DP
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MQRankSum
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QD
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InbreedingCoeff
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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African
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FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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MQ
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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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African
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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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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African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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DP
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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VQSLOD
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QD
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DP
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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 count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.106e0

BaseQRankSum
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SIO_000300: 2.55e-1

QD
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DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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SIO_000300: 5.94e-1

ReadPosRankSum
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SIO_000300: 1.44e0

ClippingRankSum
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SIO_000300: -1.598e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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ClippingRankSum
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SIO_000300: 3.62e-1

MQRankSum
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SIO_000300: 1.24e0

InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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SIO_000300: 2.03e0

QD
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SIO_000300: 1.192e1

VQSLOD
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SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
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SIO_000300: 2.417204e6

FS
type: SiteQuality
SIO_000300: 1.096e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
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variant carriers: 1

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

European (Non-Finnish)
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allele count: 45
allele frequency: 6.841193104077351e-4
allele num: 65778
num of homozygotes: 0

European (Finnish)
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allele frequency: 3.180661577608142e-3
allele num: 6288
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

African
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allele count: 8
allele frequency: 7.894217485691731e-4
allele num: 10134
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: -1.893e0

DP
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InbreedingCoeff
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SIO_000300: -4.3e-3

BaseQRankSum
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ClippingRankSum
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SIO_000300: 2.64e0

MQ
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QD
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FS
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VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.9e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 2.406552e6

ClippingRankSum
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SIO_000300: -1.012e0

FS
type: SiteQuality
SIO_000300: 4.183e0

ReadPosRankSum
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SIO_000300: 6.42e-1

BaseQRankSum
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SIO_000300: -3.64e0

MQRankSum
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SIO_000300: -6.42e-1

QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.996821684507211e-5
allele num: 66702
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: -3.0e-4

ReadPosRankSum
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FS
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VQSLOD
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MQ
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SIO_000300: 5.776e1

ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

Latino
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: 2.884615384615385e-4
allele num: 10400
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 2.408526e6

MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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African
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East Asian
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allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

Other
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ClippingRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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African
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East Asian
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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FS
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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VQSLOD
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DP
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MQRankSum
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QD
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MQ
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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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East Asian
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European (Non-Finnish)
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MQ
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FS
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VQSLOD
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QD
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MQRankSum
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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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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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Latino
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African
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South Asian
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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MQ
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MQRankSum
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East Asian
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MQ
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MQ
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DP
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SIO_000300: 2.408512e6

GenotypeQuality
all individuals: 4458
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3801
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15122
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7078
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3401
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5065
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18980
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49734656552634e-5
allele num: 66706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.308e0

DP
type: SiteQuality
SIO_000300: 2.408498e6

QD
type: SiteQuality
SIO_000300: 1.186e1

GenotypeDepth
all individuals: 912
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 714
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15076
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3402
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4452
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18979
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 10400
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.59e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.832e0

DP
type: SiteQuality
SIO_000300: 2.407335e6

QD
type: SiteQuality
SIO_000300: 1.085e1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60894
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.222000995520159e-5
allele num: 16072
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 2.918e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

DP
type: SiteQuality
SIO_000300: 1.552169e6

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.283e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 2.181e1

VQSLOD
type: SiteQuality
SIO_000300: -2.115e0

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

DP
type: SiteQuality
SIO_000300: 1.850516e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.716e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017228374015629e-5
allele num: 66286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.037667071688943e-4
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.726e0

FS
type: SiteQuality
SIO_000300: 4.865e0

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

DP
type: SiteQuality
SIO_000300: 1.85693e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507977199384745e-5
allele num: 66314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.863533e6

FS
type: SiteQuality
SIO_000300: 5.497e0

VQSLOD
type: SiteQuality
SIO_000300: -2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

QD
type: SiteQuality
SIO_000300: 5.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.366e0

East Asian
type: Population
allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.589e0

DP
type: SiteQuality
SIO_000300: 1.88124e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.305e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.171e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.285051067780873e-4
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

FS
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.893384e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.03e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.492229788720098e-4
allele num: 11454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.897612e6

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.367e0

FS
type: SiteQuality
SIO_000300: 4.576e0

QD
type: SiteQuality
SIO_000300: 1.304e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1020258725897e-5
allele num: 16388
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.367e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 1.897612e6

FS
type: SiteQuality
SIO_000300: 4.576e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.304e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.729050279329609e-5
allele num: 11456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.899016e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.635e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

DP
type: SiteQuality
SIO_000300: 1.90258e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

QD
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.786e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.145e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 2.793e1

FS
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.239e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.507e0

DP
type: SiteQuality
SIO_000300: 1.904196e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503081316699233e-5
allele num: 66530
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.23e-2

FS
type: SiteQuality
SIO_000300: 4.39e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: -1.432e0

DP
type: SiteQuality
SIO_000300: 1.912617e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.809e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.068e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.914669e6

South Asian
type: Population
allele count: 2
allele frequency: 1.216841080554879e-4
allele num: 16436
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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Other
type: Population
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allele frequency: 0.0e0
allele num: 894
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66570
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.46e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.754e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

FS
type: SiteQuality
SIO_000300: 1.088e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

DP
type: SiteQuality
SIO_000300: 1.915103e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11490
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
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QD
type: SiteQuality
SIO_000300: 1.599e1

DP
type: SiteQuality
SIO_000300: 1.915658e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.689e0

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: 11492
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

DP
type: SiteQuality
SIO_000300: 1.916448e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.791e0

VQSLOD
type: SiteQuality
SIO_000300: -4.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.227e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

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: 9784
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
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East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.64e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 1.479e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

QD
type: SiteQuality
SIO_000300: 1.209e1

DP
type: SiteQuality
SIO_000300: 1.918139e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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allele num: 16466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8626
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MQRankSum
type: SiteQuality
SIO_000300: 9.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

QD
type: SiteQuality
SIO_000300: 1.217e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.920923e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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QD
type: SiteQuality
SIO_000300: 1.226e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.832e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.278e0

DP
type: SiteQuality
SIO_000300: 1.923449e6

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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Other
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MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 1.924223e6

QD
type: SiteQuality
SIO_000300: 1.084e1

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

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

African
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allele count: 51
allele frequency: 5.206206614944875e-3
allele num: 9796
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99880023995201e-5
allele num: 66680
num of homozygotes: 0

East Asian
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allele count: 0
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Other
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allele frequency: 2.232142857142857e-3
allele num: 896
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FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.131e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.927271e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
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European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049790041991602e-4
allele num: 66680
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 896
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FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

DP
type: SiteQuality
SIO_000300: 1.927271e6

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.131e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

FS
type: SiteQuality
SIO_000300: 1.817e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.239e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.92683e6