2-40006286-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006286
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006286
    reference: chr 2
allele count: 1
allele frequency: 8.833922261484099e-5
allele num: 11320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000392122
  ensembl transcript: ENST00000454352
  gene symbol: THUMPD2
  hgvsc: ENST00000454352.2:c.4C>G
  hgvsp: ENSP00000392122.2:p.Arg2Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.94C>G
  hgvsp: ENSP00000423933.1:p.Arg32Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.94C>G
  hgvsp: ENSP00000368001.4:p.Arg32Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.94C>G
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000426202
  ensembl transcript: ENST00000510781
  gene symbol: THUMPD2
  hgvsc: ENST00000510781.2:c.7C>G
  hgvsp: ENSP00000426202.2:p.Arg3Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.76C>G
  hgvsp: ENSP00000434844.1:p.Arg26Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000260619
  ensembl transcript: ENST00000260619
  gene symbol: THUMPD2
  hgvsc: ENST00000260619.6:c.4C>G
  hgvsp: ENSP00000260619.6:p.Arg2Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.95C>G
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35686
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg32Gly
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD

2-40006297-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006297
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006297
    reference: chr 2
allele count: 2
allele frequency: 1.765536723163842e-4
allele num: 11328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.84C>G
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.65C>G
  hgvsp: ENSP00000434844.1:p.Pro22Arg
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.83C>G
  hgvsp: ENSP00000368001.4:p.Pro28Arg
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.83C>G
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.83C>G
  hgvsp: ENSP00000423933.1:p.Pro28Arg
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4951
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33179
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
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genotype quality: GenotypeQuality
  all individuals: 29
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2058
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro28Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-40006299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006299
    reference: chr 2
allele count: 1
allele frequency: 8.871540099361249e-5
allele num: 11272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.81G>A
  hgvsp: ENST00000378727.4:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.81G>A
  hgvsp: ENST00000505747.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.63G>A
  hgvsp: ENST00000530522.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.82G>A
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.81G>A
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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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: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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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
  all individuals: 3653
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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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  bin: 5.25e1
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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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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: 4
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  variant carriers: 1
hgvs: p.Glu27Glu
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-40006323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006323
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006323
    reference: chr 2
allele count: 1
allele frequency: 8.907892392659897e-5
allele num: 11226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.39C>T
  hgvsp: ENST00000530522.1:c.39C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.57C>T
  hgvsp: ENST00000505747.1:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.57C>T
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.58C>T
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.57C>T
  hgvsp: ENST00000378727.4:c.57C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27298
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genotype depth: GenotypeDepth
  all individuals: 377
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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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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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
  all individuals: 4727
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genotype quality: GenotypeQuality
  all individuals: 1363
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24926
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Phe19Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-40006325-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006325
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006324
    reference: chr 2
allele count: 1
allele frequency: 8.898380494749955e-5
allele num: 11238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.54delC
  hgvsp: ENSP00000368001.4:p.Phe19SerfsTer12
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.54delC
  hgvsp: ENSP00000423933.1:p.Phe19SerfsTer12
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.36delC
  hgvsp: ENSP00000434844.1:p.Phe13SerfsTer12
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.54delC
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.55delC
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26688
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe19SerfsTer12
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: AG
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-40006331-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006331
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006331
    reference: chr 2
allele count: 2
allele frequency: 1.784439685938615e-4
allele num: 11208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.49C>G
  hgvsp: ENSP00000368001.4:p.Arg17Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.49C>G
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.31C>G
  hgvsp: ENSP00000434844.1:p.Arg11Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.49C>G
  hgvsp: ENSP00000423933.1:p.Arg17Gly
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.50C>G
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg17Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-40006334-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006334
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006334
    reference: chr 2
allele count: 1
allele frequency: 8.925383791503035e-5
allele num: 11204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.47G>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.46G>C
  hgvsp: ENSP00000368001.4:p.Ala16Pro
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.46G>C
  hgvsp: ENSP00000423933.1:p.Ala16Pro
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.28G>C
  hgvsp: ENSP00000434844.1:p.Ala10Pro
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.46G>C
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23755
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21294
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ala16Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

2-40006335-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006335
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006335
    reference: chr 2
allele count: 1
allele frequency: 8.939746111210442e-5
allele num: 11186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.45C>T
  hgvsp: ENST00000378727.4:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.46C>T
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.45C>T
  hgvsp: ENST00000505747.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.27C>T
  hgvsp: ENST00000530522.1:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.45C>T
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22760
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4708
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly15Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-40006346-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006346
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 11170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.34C>A
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.34C>A
  hgvsp: ENSP00000423933.1:p.Pro12Thr
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.35C>A
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.16C>A
  hgvsp: ENSP00000434844.1:p.Pro6Thr
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.34C>A
  hgvsp: ENSP00000368001.4:p.Pro12Thr
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17597
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro12Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

2-40006347-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006347
    reference: chr 2
allele count: 1
allele frequency: 8.944543828264758e-5
allele num: 11180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.33G>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.34G>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.33G>C
  hgvsp: ENST00000505747.1:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.33G>C
  hgvsp: ENST00000378727.4:c.33G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.15G>C
  hgvsp: ENST00000530522.1:c.15G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16966
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly11Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-40006347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006347
    reference: chr 2
allele count: 1
allele frequency: 8.944543828264758e-5
allele num: 11180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.33G>A
  hgvsp: ENST00000505747.1:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.33G>A
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.34G>A
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.15G>A
  hgvsp: ENST00000530522.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.33G>A
  hgvsp: ENST00000378727.4:c.33G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18921
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16966
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly11Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-40006349-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006349
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006349
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 11148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.32G>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.31G>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000434844
  ensembl transcript: ENST00000530522
  gene symbol: THUMPD2
  hgvsc: ENST00000530522.1:c.13G>C
  hgvsp: ENSP00000434844.1:p.Gly5Arg
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.31G>C
  hgvsp: ENSP00000368001.4:p.Gly11Arg
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.31G>C
  hgvsp: ENSP00000423933.1:p.Gly11Arg
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17894
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15936
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly11Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-40006368-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006368
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006368
    reference: chr 2
allele count: 10
allele frequency: 9.117432530999271e-4
allele num: 10968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.12G>T
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.12G>T
  hgvsp: ENST00000505747.1:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.12G>T
  hgvsp: ENST00000378727.4:c.12G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.13G>T
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13085
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
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genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 11765
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 467
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala4Ala
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-40006372-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006372
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006372
    reference: chr 2
allele count: 1
allele frequency: 9.140767824497258e-5
allele num: 10940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.9A>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.8A>C
  hgvsp: ENSP00000423933.1:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.8A>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.8A>C
  hgvsp: ENSP00000368001.4:p.Glu3Ala
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4593
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42
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genotype quality: GenotypeQuality
  all individuals: 11086
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu3Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-40006378-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006378
    reference: chr 2
allele count: 1
allele frequency: 9.262689885142645e-5
allele num: 10796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000531687
  gene symbol: THUMPD2
  hgvsc: ENST00000531687.1:n.3T>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.2T>C
  hgvsp: ENSP00000368001.4:p.Met1?
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138050
  ensembl transcript: ENST00000403537
  gene symbol: THUMPD2
  hgvsc: ENST00000403537.3:n.2T>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.2T>C
  hgvsp: ENSP00000423933.1:p.Met1?
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3395
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
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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
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-40006391-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006391
    reference: chr 2
allele count: 1
allele frequency: 9.589566551591868e-5
allele num: 10428
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.-12G>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.-12G>C
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.75e1
  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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  bin: 1.25e1
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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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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6421
  bin: 7.5e0
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 232
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-40006405-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006405
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006405
    reference: chr 2
allele count: 1
allele frequency: 1.002204850671477e-4
allele num: 9978
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000423933
  ensembl transcript: ENST00000505747
  gene symbol: THUMPD2
  hgvsc: ENST00000505747.1:c.-26A>C
  variant of: http://identifiers.org/hgnc/14890
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000138050
  ensembl protein: ENSP00000368001
  ensembl transcript: ENST00000378727
  gene symbol: THUMPD2
  hgvsc: ENST00000378727.4:c.-26A>C
  variant of: http://identifiers.org/hgnc/14890
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2754
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 82
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/2-40006426-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40006426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40006426
    reference: chr 2
allele count: 3
allele frequency: 4.06393931183961e-4
allele num: 7382
alternate allele: A
canonical: true
consequence: upstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7067
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 5.753739930955121e-4
  allele num: 5214
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 92
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 162
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

2-40342345-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342345
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342345
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 8584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10243T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10243T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*48A>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1102T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3107T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*48A>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1102T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+52T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1102T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*48A>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136479T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10243T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*48A>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+52T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1102T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*965A>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+52T>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*48A>C
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP

2-40342351-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342351
    reference: chr 2
allele count: 3
allele frequency: 3.238341968911917e-4
allele num: 9264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*959A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*42A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136473T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*42A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*42A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+58T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+58T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10249T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10249T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*42A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1108T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1108T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10249T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+58T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*42A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3101T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1108T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1108T>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

2-40342352-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342352
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342352
    reference: chr 2
allele count: 15
allele frequency: 1.592018679685842e-3
allele num: 9422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136472A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+59A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1109A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*958T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*41T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10250A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3100A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*41T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+59A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*41T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10250A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1109A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*41T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+59A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1109A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10250A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*41T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1109A>G
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31219
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-40342358-G-GTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342360
    reference: chr 2
allele count: 2
allele frequency: 1.852881230313137e-4
allele num: 10794
alternate allele: GTA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*950_*951dupTA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+74_616+75dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*33_*34dupTA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*33_*34dupTA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10265_104+10266dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*33_*34dupTA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1124_303+1125dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+74_125+75dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136457_74-136456dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3085_105-3084dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10265_54+10266dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*33_*34dupTA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1124_276+1125dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10265_563+10266dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1124_404+1125dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+74_219+75dupTA
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*33_*34dupTA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1124_206+1125dupTA
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26028
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

2-40342359-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342359
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342359
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 11418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*34A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+66T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3093T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*34A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1116T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10257T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10257T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*951A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+66T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136465T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10257T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1116T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+66T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1116T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1116T>C
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

2-40342365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342365
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342365
    reference: chr 2
allele count: 3
allele frequency: 1.716443529007896e-4
allele num: 17478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1122T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+72T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*28A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3087T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1122T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10263T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+72T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*945A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10263T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*28A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136459T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*28A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10263T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1122T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1122T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+72T>C
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-40342366-A-ATG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342366
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342368
    reference: chr 2
allele count: 1
allele frequency: 5.229578495973224e-5
allele num: 19122
alternate allele: ATG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10265_104+10266insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+74_219+75insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+74_616+75insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*26_*27insCA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*26_*27insCA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3085_105-3084insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*26_*27insCA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136457_74-136456insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*943_*944insCA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*26_*27insCA
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10265_563+10266insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1124_276+1125insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10265_54+10266insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1124_404+1125insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+74_125+75insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1124_303+1125insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1124_206+1125insGT
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*26_*27insCA
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS

2-40342375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342375
    reference: chr 2
allele count: 1
allele frequency: 1.804402742692169e-5
allele num: 55420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+82C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1132C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*18G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1132C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*935G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10273C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1132C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10273C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*18G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+82C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10273C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136449C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3077C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1132C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+82C>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-40342377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342377
    reference: chr 2
allele count: 3
allele frequency: 4.435901227266006e-5
allele num: 67630
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*16T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1134A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+84A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+84A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10275A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10275A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3075A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*16T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+84A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*933T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*16T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1134A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1134A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10275A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1134A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136447A>G
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29245
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-40342378-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342378
    reference: chr 2
allele count: 1
allele frequency: 1.352301617352734e-5
allele num: 73948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136446T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*932A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*15A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1135T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*15A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+85T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*15A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*15A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3074T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10276T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10276T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*15A>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1135T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+85T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1135T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+85T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10276T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1135T>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-40342380-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342380
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342380
    reference: chr 2
allele count: 1
allele frequency: 1.184413123297406e-5
allele num: 84430
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+87T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10278T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+87T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10278T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*930A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136444T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1137T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.*13A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.*13A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.*13A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10278T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1137T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1137T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1137T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+87T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3072T>C
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-40342420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342420
    reference: chr 2
allele count: 1
allele frequency: 8.318083513558476e-6
allele num: 120220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2787G>A
  hgvsp: ENST00000406391.2:c.2787G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2787G>A
  hgvsp: ENST00000405269.1:c.2787G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2895G>A
  hgvsp: ENST00000403092.1:c.2895G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2787G>A
  hgvsp: ENST00000542024.1:c.2787G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136404C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2871G>A
  hgvsp: ENST00000408028.2:c.2871G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2880G>A
  hgvsp: ENST00000542756.1:c.2880G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+127C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10318C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2880G>A
  hgvsp: ENST00000405901.3:c.2880G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2787G>A
  hgvsp: ENST00000402441.1:c.2787G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+127C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2895G>A
  hgvsp: ENST00000332839.4:c.2895G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10318C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2787G>A
  hgvsp: ENST00000406785.2:c.2787G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3032C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*890G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1177C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+127C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1177C>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu965Glu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-40342425-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342425
    reference: chr 2
allele count: 2
allele frequency: 1.659943893896386e-5
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1182G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3027G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136399G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2875C>A
  hgvsp: ENSP00000440727.1:p.Leu959Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10323G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2782C>A
  hgvsp: ENSP00000385188.1:p.Leu928Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2782C>A
  hgvsp: ENSP00000385535.1:p.Leu928Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2890C>A
  hgvsp: ENSP00000332931.4:p.Leu964Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2875C>A
  hgvsp: ENSP00000385678.3:p.Leu959Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2866C>A
  hgvsp: ENSP00000384908.2:p.Leu956Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+132G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2782C>A
  hgvsp: ENSP00000383886.1:p.Leu928Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1182G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10323G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+132G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2782C>A
  hgvsp: ENSP00000385811.2:p.Leu928Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2890C>A
  hgvsp: ENSP00000384763.1:p.Leu964Met
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1182G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1182G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10323G>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu964Met
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-40342446-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342446
    reference: chr 2
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10344A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1203A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2854T>G
  hgvsp: ENSP00000440727.1:p.Leu952Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3006A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+153A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2761T>G
  hgvsp: ENSP00000385188.1:p.Leu921Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2845T>G
  hgvsp: ENSP00000384908.2:p.Leu949Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2869T>G
  hgvsp: ENSP00000384763.1:p.Leu957Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2761T>G
  hgvsp: ENSP00000383886.1:p.Leu921Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*864T>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2761T>G
  hgvsp: ENSP00000385535.1:p.Leu921Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2869T>G
  hgvsp: ENSP00000332931.4:p.Leu957Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+153A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2761T>G
  hgvsp: ENSP00000385811.2:p.Leu921Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1203A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2761T>G
  hgvsp: ENSP00000443515.1:p.Leu921Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+153A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10344A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1203A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10344A>C
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu957Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-40342447-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342447
    reference: chr 2
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136377G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2760C>G
  hgvsp: ENST00000405269.1:c.2760C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*863C>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2760C>G
  hgvsp: ENST00000402441.1:c.2760C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2760C>G
  hgvsp: ENST00000542024.1:c.2760C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+154G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+154G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2760C>G
  hgvsp: ENST00000406391.2:c.2760C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+154G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2853C>G
  hgvsp: ENST00000542756.1:c.2853C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10345G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2844C>G
  hgvsp: ENST00000408028.2:c.2844C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2868C>G
  hgvsp: ENST00000403092.1:c.2868C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-3005G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2853C>G
  hgvsp: ENST00000405901.3:c.2853C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1204G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2868C>G
  hgvsp: ENST00000332839.4:c.2868C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1204G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10345G>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10345G>C
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu956Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-40342469-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342469
    reference: chr 2
allele count: 8
allele frequency: 6.591957811470006e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2738G>T
  hgvsp: ENSP00000385188.1:p.Cys913Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2846G>T
  hgvsp: ENSP00000384763.1:p.Cys949Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1226C>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+176C>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*841G>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2738G>T
  hgvsp: ENSP00000383886.1:p.Cys913Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+176C>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2846G>T
  hgvsp: ENSP00000332931.4:p.Cys949Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2822G>T
  hgvsp: ENSP00000384908.2:p.Cys941Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2738G>T
  hgvsp: ENSP00000385535.1:p.Cys913Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2831G>T
  hgvsp: ENSP00000440727.1:p.Cys944Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2738G>T
  hgvsp: ENSP00000385811.2:p.Cys913Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2983C>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2831G>T
  hgvsp: ENSP00000385678.3:p.Cys944Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1226C>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2738G>T
  hgvsp: ENSP00000443515.1:p.Cys913Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10367C>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1226C>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1226C>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+176C>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys949Phe
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-40342480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342480
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10378G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136344G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2727C>T
  hgvsp: ENST00000402441.1:c.2727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2727C>T
  hgvsp: ENST00000406785.2:c.2727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2835C>T
  hgvsp: ENST00000403092.1:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2820C>T
  hgvsp: ENST00000542756.1:c.2820C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10378G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10378G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1237G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+187G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2727C>T
  hgvsp: ENST00000406391.2:c.2727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*830C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1237G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2811C>T
  hgvsp: ENST00000408028.2:c.2811C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2727C>T
  hgvsp: ENST00000542024.1:c.2727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2820C>T
  hgvsp: ENST00000405901.3:c.2820C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2835C>T
  hgvsp: ENST00000332839.4:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1237G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+187G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2972G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu945Leu
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-40342493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342493
    reference: chr 2
allele count: 63
allele frequency: 5.190567996440753e-4
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+200C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1250C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*817G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2714G>A
  hgvsp: ENSP00000385811.2:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2822G>A
  hgvsp: ENSP00000384763.1:p.Arg941Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10391C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2807G>A
  hgvsp: ENSP00000440727.1:p.Arg936Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2714G>A
  hgvsp: ENSP00000385535.1:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2714G>A
  hgvsp: ENSP00000385188.1:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1250C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2798G>A
  hgvsp: ENSP00000384908.2:p.Arg933Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2714G>A
  hgvsp: ENSP00000383886.1:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2822G>A
  hgvsp: ENSP00000332931.4:p.Arg941Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1250C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2714G>A
  hgvsp: ENSP00000443515.1:p.Arg905Gln
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10391C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+200C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+200C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2959C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2807G>A
  hgvsp: ENSP00000385678.3:p.Arg936Gln
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg941Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

2-40342494-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342494
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342494
    reference: chr 2
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10392G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2821C>T
  hgvsp: ENSP00000384763.1:p.Arg941Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2806C>T
  hgvsp: ENSP00000440727.1:p.Arg936Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2958G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2713C>T
  hgvsp: ENSP00000385811.2:p.Arg905Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2821C>T
  hgvsp: ENSP00000332931.4:p.Arg941Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1251G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+201G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10392G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2713C>T
  hgvsp: ENSP00000383886.1:p.Arg905Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2806C>T
  hgvsp: ENSP00000385678.3:p.Arg936Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1251G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2713C>T
  hgvsp: ENSP00000385188.1:p.Arg905Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1251G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*816C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2713C>T
  hgvsp: ENSP00000385535.1:p.Arg905Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2797C>T
  hgvsp: ENSP00000384908.2:p.Arg933Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1251G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136330G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+201G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg941Trp
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-40342497-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342497
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342497
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*813C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2803C>T
  hgvsp: ENSP00000440727.1:p.Pro935Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10395G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136327G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2818C>T
  hgvsp: ENSP00000332931.4:p.Pro940Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1254G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2803C>T
  hgvsp: ENSP00000385678.3:p.Pro935Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2710C>T
  hgvsp: ENSP00000385811.2:p.Pro904Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1254G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1254G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2710C>T
  hgvsp: ENSP00000385535.1:p.Pro904Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2710C>T
  hgvsp: ENSP00000383886.1:p.Pro904Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2818C>T
  hgvsp: ENSP00000384763.1:p.Pro940Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2794C>T
  hgvsp: ENSP00000384908.2:p.Pro932Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2710C>T
  hgvsp: ENSP00000385188.1:p.Pro904Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2955G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10395G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1254G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10395G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+204G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro940Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-40342510-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342510
    reference: chr 2
allele count: 9
allele frequency: 7.417908479493604e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10408A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1267A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2942A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2805T>G
  hgvsp: ENST00000403092.1:c.2805T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2781T>G
  hgvsp: ENST00000408028.2:c.2781T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1267A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+217A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2697T>G
  hgvsp: ENST00000405269.1:c.2697T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+217A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*800T>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10408A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2697T>G
  hgvsp: ENST00000542024.1:c.2697T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2697T>G
  hgvsp: ENST00000406785.2:c.2697T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2805T>G
  hgvsp: ENST00000332839.4:c.2805T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2697T>G
  hgvsp: ENST00000406391.2:c.2697T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2790T>G
  hgvsp: ENST00000405901.3:c.2790T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2790T>G
  hgvsp: ENST00000542756.1:c.2790T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1267A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+217A>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2697T>G
  hgvsp: ENST00000402441.1:c.2697T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly935Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-40342516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342516
    reference: chr 2
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136308G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2799C>T
  hgvsp: ENST00000403092.1:c.2799C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2775C>T
  hgvsp: ENST00000408028.2:c.2775C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+223G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1273G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+223G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2784C>T
  hgvsp: ENST00000542756.1:c.2784C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2691C>T
  hgvsp: ENST00000542024.1:c.2691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1273G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+223G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2691C>T
  hgvsp: ENST00000406785.2:c.2691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10414G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10414G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2691C>T
  hgvsp: ENST00000402441.1:c.2691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2799C>T
  hgvsp: ENST00000332839.4:c.2799C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2691C>T
  hgvsp: ENST00000406391.2:c.2691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1273G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*794C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2936G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2691C>T
  hgvsp: ENST00000405269.1:c.2691C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile933Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-40342523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342523
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10421G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2792C>T
  hgvsp: ENSP00000332931.4:p.Pro931Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2684C>T
  hgvsp: ENSP00000383886.1:p.Pro895Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2768C>T
  hgvsp: ENSP00000384908.2:p.Pro923Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*787C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2929G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1280G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2684C>T
  hgvsp: ENSP00000443515.1:p.Pro895Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2777C>T
  hgvsp: ENSP00000440727.1:p.Pro926Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2684C>T
  hgvsp: ENSP00000385535.1:p.Pro895Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2684C>T
  hgvsp: ENSP00000385188.1:p.Pro895Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2777C>T
  hgvsp: ENSP00000385678.3:p.Pro926Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136301G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10421G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2684C>T
  hgvsp: ENSP00000385811.2:p.Pro895Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2792C>T
  hgvsp: ENSP00000384763.1:p.Pro931Leu
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+230G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1280G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+230G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+230G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro931Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-40342527-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342527
    reference: chr 2
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10425T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2773A>G
  hgvsp: ENSP00000440727.1:p.Arg925Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2764A>G
  hgvsp: ENSP00000384908.2:p.Arg922Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+234T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+234T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2680A>G
  hgvsp: ENSP00000385811.2:p.Arg894Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2680A>G
  hgvsp: ENSP00000383886.1:p.Arg894Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2680A>G
  hgvsp: ENSP00000385535.1:p.Arg894Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2788A>G
  hgvsp: ENSP00000332931.4:p.Arg930Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2773A>G
  hgvsp: ENSP00000385678.3:p.Arg925Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1284T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2680A>G
  hgvsp: ENSP00000443515.1:p.Arg894Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2788A>G
  hgvsp: ENSP00000384763.1:p.Arg930Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*783A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10425T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2680A>G
  hgvsp: ENSP00000385188.1:p.Arg894Gly
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1284T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1284T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2925T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1284T>C
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg930Gly
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-40342530-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342530
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2770C>T
  hgvsp: ENSP00000385678.3:p.Arg924Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2761C>T
  hgvsp: ENSP00000384908.2:p.Arg921Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1287G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2677C>T
  hgvsp: ENSP00000383886.1:p.Arg893Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2785C>T
  hgvsp: ENSP00000332931.4:p.Arg929Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2785C>T
  hgvsp: ENSP00000384763.1:p.Arg929Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2922G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2677C>T
  hgvsp: ENSP00000385535.1:p.Arg893Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10428G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+237G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2677C>T
  hgvsp: ENSP00000385188.1:p.Arg893Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*780C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10428G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1287G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2770C>T
  hgvsp: ENSP00000440727.1:p.Arg924Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2677C>T
  hgvsp: ENSP00000385811.2:p.Arg893Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2677C>T
  hgvsp: ENSP00000443515.1:p.Arg893Trp
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1287G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+237G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10428G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg929Trp
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-40342530-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342530
    reference: chr 2
allele count: 20
allele frequency: 1.647500741375334e-4
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2677C>A
  hgvsp: ENST00000402441.1:c.2677C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10428G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2677C>A
  hgvsp: ENST00000542024.1:c.2677C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2677C>A
  hgvsp: ENST00000406391.2:c.2677C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+237G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2677C>A
  hgvsp: ENST00000406785.2:c.2677C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2785C>A
  hgvsp: ENST00000403092.1:c.2785C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*780C>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2761C>A
  hgvsp: ENST00000408028.2:c.2761C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10428G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2770C>A
  hgvsp: ENST00000405901.3:c.2770C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2785C>A
  hgvsp: ENST00000332839.4:c.2785C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2677C>A
  hgvsp: ENST00000405269.1:c.2677C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+237G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2770C>A
  hgvsp: ENST00000542756.1:c.2770C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1287G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1287G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10428G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+237G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136294G>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg929Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS

2-40342533-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342533
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2782C>A
  hgvsp: ENST00000332839.4:c.2782C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10431G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*777C>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2674C>A
  hgvsp: ENST00000402441.1:c.2674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1290G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2782C>A
  hgvsp: ENST00000403092.1:c.2782C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136291G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2674C>A
  hgvsp: ENST00000405269.1:c.2674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10431G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1290G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1290G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2758C>A
  hgvsp: ENST00000408028.2:c.2758C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10431G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2674C>A
  hgvsp: ENST00000406391.2:c.2674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+240G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2767C>A
  hgvsp: ENST00000542756.1:c.2767C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2674C>A
  hgvsp: ENST00000542024.1:c.2674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2674C>A
  hgvsp: ENST00000406785.2:c.2674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2919G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2767C>A
  hgvsp: ENST00000405901.3:c.2767C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg928Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-40342537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342537
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2763G>A
  hgvsp: ENST00000542756.1:c.2763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1294C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+244C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2670G>A
  hgvsp: ENST00000406391.2:c.2670G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10435C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2670G>A
  hgvsp: ENST00000542024.1:c.2670G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2778G>A
  hgvsp: ENST00000403092.1:c.2778G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+244C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2754G>A
  hgvsp: ENST00000408028.2:c.2754G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1294C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136287C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2778G>A
  hgvsp: ENST00000332839.4:c.2778G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2670G>A
  hgvsp: ENST00000406785.2:c.2670G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*773G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2670G>A
  hgvsp: ENST00000402441.1:c.2670G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2763G>A
  hgvsp: ENST00000405901.3:c.2763G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+244C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1294C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1294C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10435C>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu926Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-40342546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342546
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342546
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10444C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+253C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+253C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2661G>A
  hgvsp: ENST00000405269.1:c.2661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2661G>A
  hgvsp: ENST00000542024.1:c.2661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2661G>A
  hgvsp: ENST00000406391.2:c.2661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2754G>A
  hgvsp: ENST00000405901.3:c.2754G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2745G>A
  hgvsp: ENST00000408028.2:c.2745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2769G>A
  hgvsp: ENST00000403092.1:c.2769G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2769G>A
  hgvsp: ENST00000332839.4:c.2769G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10444C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*764G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2661G>A
  hgvsp: ENST00000406785.2:c.2661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2754G>A
  hgvsp: ENST00000542756.1:c.2754G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+253C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1303C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10444C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2906C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1303C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2661G>A
  hgvsp: ENST00000402441.1:c.2661G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly923Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

2-40342549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342549
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342549
    reference: chr 2
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2658G>A
  hgvsp: ENST00000405269.1:c.2658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+256C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2742G>A
  hgvsp: ENST00000408028.2:c.2742G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2658G>A
  hgvsp: ENST00000542024.1:c.2658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2751G>A
  hgvsp: ENST00000405901.3:c.2751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2658G>A
  hgvsp: ENST00000402441.1:c.2658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1306C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2658G>A
  hgvsp: ENST00000406785.2:c.2658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10447C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2658G>A
  hgvsp: ENST00000406391.2:c.2658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136275C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*761G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2766G>A
  hgvsp: ENST00000403092.1:c.2766G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2751G>A
  hgvsp: ENST00000542756.1:c.2751G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2766G>A
  hgvsp: ENST00000332839.4:c.2766G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10447C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+256C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1306C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1306C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+256C>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val922Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

2-40342573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342573
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+280G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1330G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2742C>T
  hgvsp: ENST00000403092.1:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2634C>T
  hgvsp: ENST00000406391.2:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2742C>T
  hgvsp: ENST00000332839.4:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10471G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+280G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2727C>T
  hgvsp: ENST00000542756.1:c.2727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2634C>T
  hgvsp: ENST00000406785.2:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2718C>T
  hgvsp: ENST00000408028.2:c.2718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*737C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2634C>T
  hgvsp: ENST00000402441.1:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2634C>T
  hgvsp: ENST00000542024.1:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10471G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+280G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2634C>T
  hgvsp: ENST00000405269.1:c.2634C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2727C>T
  hgvsp: ENST00000405901.3:c.2727C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10471G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1330G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1330G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe914Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-40342582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342582
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342582
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10480G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2625C>T
  hgvsp: ENST00000406785.2:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2718C>T
  hgvsp: ENST00000542756.1:c.2718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+289G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1339G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2733C>T
  hgvsp: ENST00000332839.4:c.2733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+289G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2625C>T
  hgvsp: ENST00000542024.1:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2733C>T
  hgvsp: ENST00000403092.1:c.2733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2709C>T
  hgvsp: ENST00000408028.2:c.2709C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2625C>T
  hgvsp: ENST00000402441.1:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1339G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2718C>T
  hgvsp: ENST00000405901.3:c.2718C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+289G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1339G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*728C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2870G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2625C>T
  hgvsp: ENST00000406391.2:c.2625C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136242G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10480G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val911Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-40342599-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342599
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2608A>T
  hgvsp: ENSP00000443515.1:p.Thr870Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1356T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10497T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2608A>T
  hgvsp: ENSP00000385188.1:p.Thr870Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10497T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2853T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2716A>T
  hgvsp: ENSP00000384763.1:p.Thr906Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2692A>T
  hgvsp: ENSP00000384908.2:p.Thr898Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2608A>T
  hgvsp: ENSP00000385535.1:p.Thr870Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+306T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+306T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2701A>T
  hgvsp: ENSP00000440727.1:p.Thr901Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2701A>T
  hgvsp: ENSP00000385678.3:p.Thr901Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+306T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2608A>T
  hgvsp: ENSP00000385811.2:p.Thr870Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2716A>T
  hgvsp: ENSP00000332931.4:p.Thr906Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10497T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1356T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136225T>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2608A>T
  hgvsp: ENSP00000383886.1:p.Thr870Ser
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr906Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-40342600-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342600
    reference: chr 2
allele count: 897
allele frequency: 7.388919092571541e-3
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2607C>A
  hgvsp: ENST00000405269.1:c.2607C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2607C>A
  hgvsp: ENST00000406391.2:c.2607C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2607C>A
  hgvsp: ENST00000542024.1:c.2607C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2607C>A
  hgvsp: ENST00000402441.1:c.2607C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2852G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*710C>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2700C>A
  hgvsp: ENST00000405901.3:c.2700C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1357G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2691C>A
  hgvsp: ENST00000408028.2:c.2691C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2607C>A
  hgvsp: ENST00000406785.2:c.2607C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136224G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2700C>A
  hgvsp: ENST00000542756.1:c.2700C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2715C>A
  hgvsp: ENST00000332839.4:c.2715C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2715C>A
  hgvsp: ENST00000403092.1:c.2715C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+307G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+307G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10498G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1357G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+307G>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1357G>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly905Gly
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-40342607-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342607
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342607
    reference: chr 2
allele count: 12
allele frequency: 9.884841595413434e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1364G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2693C>T
  hgvsp: ENSP00000440727.1:p.Ser898Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136217G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+314G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2600C>T
  hgvsp: ENSP00000443515.1:p.Ser867Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2600C>T
  hgvsp: ENSP00000385811.2:p.Ser867Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1364G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*703C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2845G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2600C>T
  hgvsp: ENSP00000385535.1:p.Ser867Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2708C>T
  hgvsp: ENSP00000384763.1:p.Ser903Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10505G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1364G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10505G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2600C>T
  hgvsp: ENSP00000385188.1:p.Ser867Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+314G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2684C>T
  hgvsp: ENSP00000384908.2:p.Ser895Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2708C>T
  hgvsp: ENSP00000332931.4:p.Ser903Phe
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+314G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2600C>T
  hgvsp: ENSP00000383886.1:p.Ser867Phe
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser903Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-40342623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342623
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342623
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2584G>A
  hgvsp: ENSP00000385535.1:p.Glu862Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2584G>A
  hgvsp: ENSP00000385188.1:p.Glu862Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2668G>A
  hgvsp: ENSP00000384908.2:p.Glu890Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+330C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1380C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2692G>A
  hgvsp: ENSP00000332931.4:p.Glu898Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10521C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136201C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2692G>A
  hgvsp: ENSP00000384763.1:p.Glu898Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2829C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*687G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2584G>A
  hgvsp: ENSP00000385811.2:p.Glu862Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2584G>A
  hgvsp: ENSP00000383886.1:p.Glu862Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2677G>A
  hgvsp: ENSP00000440727.1:p.Glu893Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1380C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2677G>A
  hgvsp: ENSP00000385678.3:p.Glu893Lys
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1380C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1380C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+330C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2584G>A
  hgvsp: ENSP00000443515.1:p.Glu862Lys
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu898Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-40342628-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342628
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342628
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10526T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1385T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1385T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+335T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2579A>G
  hgvsp: ENSP00000383886.1:p.Asn860Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2687A>G
  hgvsp: ENSP00000332931.4:p.Asn896Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2579A>G
  hgvsp: ENSP00000385811.2:p.Asn860Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2579A>G
  hgvsp: ENSP00000385188.1:p.Asn860Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+335T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2672A>G
  hgvsp: ENSP00000385678.3:p.Asn891Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2687A>G
  hgvsp: ENSP00000384763.1:p.Asn896Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2824T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2672A>G
  hgvsp: ENSP00000440727.1:p.Asn891Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2663A>G
  hgvsp: ENSP00000384908.2:p.Asn888Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*682A>G
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2579A>G
  hgvsp: ENSP00000385535.1:p.Asn860Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+335T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2579A>G
  hgvsp: ENSP00000443515.1:p.Asn860Ser
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136196T>C
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10526T>C
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn896Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-40342635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342635
    reference: chr 2
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2572G>A
  hgvsp: ENSP00000443515.1:p.Ala858Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2656G>A
  hgvsp: ENSP00000384908.2:p.Ala886Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2680G>A
  hgvsp: ENSP00000332931.4:p.Ala894Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1392C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1392C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+342C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2665G>A
  hgvsp: ENSP00000440727.1:p.Ala889Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2817C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1392C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*675G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2680G>A
  hgvsp: ENSP00000384763.1:p.Ala894Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2572G>A
  hgvsp: ENSP00000385188.1:p.Ala858Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2665G>A
  hgvsp: ENSP00000385678.3:p.Ala889Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10533C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+342C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2572G>A
  hgvsp: ENSP00000385535.1:p.Ala858Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136189C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2572G>A
  hgvsp: ENSP00000385811.2:p.Ala858Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2572G>A
  hgvsp: ENSP00000383886.1:p.Ala858Thr
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1392C>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala894Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-40342636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342636
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342636
    reference: chr 2
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2571C>T
  hgvsp: ENST00000406785.2:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1393G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2655C>T
  hgvsp: ENST00000408028.2:c.2655C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*674C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2679C>T
  hgvsp: ENST00000403092.1:c.2679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136188G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2571C>T
  hgvsp: ENST00000542024.1:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+343G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2571C>T
  hgvsp: ENST00000405269.1:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1393G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2571C>T
  hgvsp: ENST00000402441.1:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2816G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2679C>T
  hgvsp: ENST00000332839.4:c.2679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2664C>T
  hgvsp: ENST00000542756.1:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10534G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2571C>T
  hgvsp: ENST00000406391.2:c.2571C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10534G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1393G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10534G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+343G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His893His
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-40342660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342660
    reference: chr 2
allele count: 4
allele frequency: 3.295055768818887e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2640C>T
  hgvsp: ENST00000405901.3:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2655C>T
  hgvsp: ENST00000332839.4:c.2655C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136164G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2655C>T
  hgvsp: ENST00000403092.1:c.2655C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+367G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2547C>T
  hgvsp: ENST00000542024.1:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2547C>T
  hgvsp: ENST00000402441.1:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*650C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2631C>T
  hgvsp: ENST00000408028.2:c.2631C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2547C>T
  hgvsp: ENST00000406391.2:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2547C>T
  hgvsp: ENST00000405269.1:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2640C>T
  hgvsp: ENST00000542756.1:c.2640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10558G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1417G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10558G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1417G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+367G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2547C>T
  hgvsp: ENST00000406785.2:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+367G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1417G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala885Ala
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

2-40342684-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342684
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342684
    reference: chr 2
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1441A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1441A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2523T>C
  hgvsp: ENST00000406391.2:c.2523T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136140A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2768A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+391A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10582A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2631T>C
  hgvsp: ENST00000403092.1:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*626T>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1441A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+391A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2523T>C
  hgvsp: ENST00000406785.2:c.2523T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2523T>C
  hgvsp: ENST00000405269.1:c.2523T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2631T>C
  hgvsp: ENST00000332839.4:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10582A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2607T>C
  hgvsp: ENST00000408028.2:c.2607T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2616T>C
  hgvsp: ENST00000405901.3:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10582A>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2616T>C
  hgvsp: ENST00000542756.1:c.2616T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2523T>C
  hgvsp: ENST00000542024.1:c.2523T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn877Asn
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-40342687-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342687
    reference: chr 2
allele count: 19
allele frequency: 1.565693190058672e-4
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1444C>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2520G>C
  hgvsp: ENST00000402441.1:c.2520G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2604G>C
  hgvsp: ENST00000408028.2:c.2604G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2613G>C
  hgvsp: ENST00000542756.1:c.2613G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2520G>C
  hgvsp: ENST00000405269.1:c.2520G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10585C>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10585C>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136137C>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2765C>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*623G>C
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2520G>C
  hgvsp: ENST00000542024.1:c.2520G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2520G>C
  hgvsp: ENST00000406391.2:c.2520G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+394C>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10585C>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2628G>C
  hgvsp: ENST00000403092.1:c.2628G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2628G>C
  hgvsp: ENST00000332839.4:c.2628G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+394C>G
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2613G>C
  hgvsp: ENST00000405901.3:c.2613G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2520G>C
  hgvsp: ENST00000406785.2:c.2520G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1444C>G
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val876Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

2-40342687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342687
    reference: chr 2
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2613G>A
  hgvsp: ENST00000542756.1:c.2613G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1444C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+394C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2604G>A
  hgvsp: ENST00000408028.2:c.2604G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+394C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2520G>A
  hgvsp: ENST00000402441.1:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2520G>A
  hgvsp: ENST00000406391.2:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136137C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2520G>A
  hgvsp: ENST00000405269.1:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10585C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1444C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10585C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2628G>A
  hgvsp: ENST00000332839.4:c.2628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2520G>A
  hgvsp: ENST00000406785.2:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*623G>A
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2520G>A
  hgvsp: ENST00000542024.1:c.2520G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2628G>A
  hgvsp: ENST00000403092.1:c.2628G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2765C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1444C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10585C>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val876Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

2-40342690-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342690
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342690
    reference: chr 2
allele count: 35
allele frequency: 2.884599535167389e-4
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2601G>A
  hgvsp: ENST00000408028.2:c.2601G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136134C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2517G>A
  hgvsp: ENST00000542024.1:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+397C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599268
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599268.1:n.563+10588C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000383886
  ensembl transcript: ENST00000406785
  gene symbol: SLC8A1
  hgvsc: ENST00000406785.2:c.2517G>A
  hgvsp: ENST00000406785.2:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2625G>A
  hgvsp: ENST00000332839.4:c.2625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2517G>A
  hgvsp: ENST00000405269.1:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+397C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2517G>A
  hgvsp: ENST00000406391.2:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+397C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2625G>A
  hgvsp: ENST00000403092.1:c.2625G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2517G>A
  hgvsp: ENST00000402441.1:c.2517G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2610G>A
  hgvsp: ENST00000405901.3:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2610G>A
  hgvsp: ENST00000542756.1:c.2610G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1447C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1447C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10588C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1447C>T
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599956
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599956.1:n.206+1447C>T
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala875Ala
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

2-40342691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40342691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 40342691
    reference: chr 2
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000440727
  ensembl transcript: ENST00000542756
  gene symbol: SLC8A1
  hgvsc: ENST00000542756.1:c.2609C>T
  hgvsp: ENSP00000440727.1:p.Ala870Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597385
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597385.1:n.276+1448G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000598247
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000598247.1:n.616+398G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000443515
  ensembl transcript: ENST00000542024
  gene symbol: SLC8A1
  hgvsc: ENST00000542024.1:c.2516C>T
  hgvsp: ENSP00000443515.1:p.Ala839Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593848
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593848.1:n.219+398G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000332931
  ensembl transcript: ENST00000332839
  gene symbol: SLC8A1
  hgvsc: ENST00000332839.4:c.2624C>T
  hgvsp: ENSP00000332931.4:p.Ala875Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000597170
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000597170.1:n.104+10589G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384908
  ensembl transcript: ENST00000408028
  gene symbol: SLC8A1
  hgvsc: ENST00000408028.2:c.2600C>T
  hgvsp: ENSP00000384908.2:p.Ala867Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000601679
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000601679.1:n.404+1448G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385811
  ensembl transcript: ENST00000406391
  gene symbol: SLC8A1
  hgvsc: ENST00000406391.2:c.2516C>T
  hgvsp: ENSP00000385811.2:p.Ala839Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000593878
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000593878.1:n.105-2761G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385188
  ensembl transcript: ENST00000402441
  gene symbol: SLC8A1
  hgvsc: ENST00000402441.1:c.2516C>T
  hgvsp: ENSP00000385188.1:p.Ala839Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000599740
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000599740.1:n.74-136133G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385678
  ensembl transcript: ENST00000405901
  gene symbol: SLC8A1
  hgvsc: ENST00000405901.3:c.2609C>T
  hgvsp: ENSP00000385678.3:p.Ala870Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000385535
  ensembl transcript: ENST00000405269
  gene symbol: SLC8A1
  hgvsc: ENST00000405269.1:c.2516C>T
  hgvsp: ENSP00000385535.1:p.Ala839Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000435515
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000435515.1:n.125+398G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000384763
  ensembl transcript: ENST00000403092
  gene symbol: SLC8A1
  hgvsc: ENST00000403092.1:c.2624C>T
  hgvsp: ENSP00000384763.1:p.Ala875Val
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183023
  ensembl protein: ENSP00000386116
  ensembl transcript: ENST00000407929
  gene symbol: SLC8A1
  hgvsc: ENST00000407929.2:c.*619C>T
  variant of: http://identifiers.org/hgnc/11068
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000596532
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000596532.1:n.303+1448G>A
  variant of: http://identifiers.org/hgnc/44102
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227028
  ensembl transcript: ENST00000444629
  gene symbol: SLC8A1-AS1
  hgvsc: ENST00000444629.1:n.54+10589G>A
  variant of: http://identifiers.org/hgnc/44102
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala875Val
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34651
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.298153034300791e-4
allele num: 3032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.61913e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.09e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.378e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.688172043010753e-4
allele num: 7440
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.51e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.433e5

GenotypeQuality
all individuals: 31875
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4703
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2998
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.343724805159903e-4
allele num: 7442
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.66e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.715e0

DP
type: SiteQuality
SIO_000300: 2.36639e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

GenotypeQuality
all individuals: 215
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.331112591605596e-4
allele num: 3002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.187e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.88e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.241e0

QD
type: SiteQuality
SIO_000300: 1.194e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.05509e5

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

GenotypeQuality
all individuals: 24574
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.328894806924101e-4
allele num: 3004
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.790000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.03604e5

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

FS
type: SiteQuality
SIO_000300: 8.44e-1

MQ
type: SiteQuality
SIO_000300: 6.002e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

QD
type: SiteQuality
SIO_000300: 3.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22391
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2988
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.670940170940171e-4
allele num: 7488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: -7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.790000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.538e0

QD
type: SiteQuality
SIO_000300: 1.761e1

DP
type: SiteQuality
SIO_000300: 1.96843e5

VQSLOD
type: SiteQuality
SIO_000300: -2.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

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

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

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

GenotypeQuality
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.35795836131632e-4
allele num: 2978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.293e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.76e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 4.129e0

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 1.93524e5

GenotypeQuality
all individuals: 8
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 9.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
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GenotypeQuality
all individuals: 481
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.369272237196766e-4
allele num: 2968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.90762e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.939999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.696e-1

FS
type: SiteQuality
SIO_000300: 1.922e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 17
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2968
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 342
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 152
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.686e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.53e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.80377e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 481
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.360215053763441e-4
allele num: 2976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.25e-2

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

FS
type: SiteQuality
SIO_000300: 1.4043e1

VQSLOD
type: SiteQuality
SIO_000300: -7.331e-1

DP
type: SiteQuality
SIO_000300: 1.78767e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-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
all individuals: 15
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 152
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South Asian
type: Population
allele count: 1
allele frequency: 1.334757074212493e-4
allele num: 7492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

FS
type: SiteQuality
SIO_000300: 1.4043e1

QD
type: SiteQuality
SIO_000300: 8.279999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.78767e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.25e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.331e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2966
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7486
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.33e-2

QD
type: SiteQuality
SIO_000300: 1.4e1

DP
type: SiteQuality
SIO_000300: 1.75783e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2876
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.342281879194631e-4
allele num: 7450
num of homozygotes: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 6.25e-2
allele num: 144
num of homozygotes: 1

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

DP
type: SiteQuality
SIO_000300: 1.62068e5

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

QD
type: SiteQuality
SIO_000300: 1.365e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.530000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.50140056022409e-4
allele num: 2856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 7444
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.361e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.679999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

QD
type: SiteQuality
SIO_000300: 6.02e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.58884e5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 120
num of homozygotes: 0

South Asian
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allele frequency: 1.355013550135501e-4
allele num: 7380
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.137e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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SIO_000300: 1.52426e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 9.169e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 136
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Latino
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South Asian
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allele frequency: 1.393534002229654e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
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QD
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DP
type: SiteQuality
SIO_000300: 1.37725e5

ClippingRankSum
type: SiteQuality
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

South Asian
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allele frequency: 1.450957632037145e-4
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

FS
type: SiteQuality
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QD
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DP
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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East Asian
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allele num: 100
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

MQ
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DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

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

South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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allele frequency: 3.012048192771084e-3
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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South Asian
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allele num: 1684
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.255813953488372e-3
allele num: 4300
num of homozygotes: 0

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

VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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SIO_000300: 4.06e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele num: 5122
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East Asian
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Other
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South Asian
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BaseQRankSum
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MQ
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VQSLOD
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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MQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele num: 9340
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Latino
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African
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East Asian
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Other
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South Asian
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European (Finnish)
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36324
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12189
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 4.035512510088781e-4
allele num: 2478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2036
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.47e-2

MQ
type: SiteQuality
SIO_000300: 6.282e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

QD
type: SiteQuality
SIO_000300: 1.665e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

DP
type: SiteQuality
SIO_000300: 4.99366e5

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 2302
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23134
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30624
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 144
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1795
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29751
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20643
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2739
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.836884643644379e-4
allele num: 5444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3988
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 8.16651e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeDepth
all individuals: 89
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1195
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 569
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1941
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 475
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26032
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24590
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38058
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.221235006663705e-4
allele num: 4502
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.872737719046251e-4
allele num: 6962
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.076e5

QD
type: SiteQuality
SIO_000300: 9.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: -1.627e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

FS
type: SiteQuality
SIO_000300: 5.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeDepth
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1029
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1718
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1664
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21808
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.4118469924268e-5
allele num: 41462
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.53615e5

QD
type: SiteQuality
SIO_000300: 1.053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.06e-1

GenotypeDepth
all individuals: 17535
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1391
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1954
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 168
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 646
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 925
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33308
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.126845038070526e-5
allele num: 47018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 1.03126e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -2.426e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.01e-1

QD
type: SiteQuality
SIO_000300: 1.983e1

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000444629
gene symbol: SLC8A1-AS1
hgvsc: ENST00000444629.1:n.54+10318C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000601679
gene symbol: SLC8A1-AS1
hgvsc: ENST00000601679.1:n.404+1177C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000596532
gene symbol: SLC8A1-AS1
hgvsc: ENST00000596532.1:n.303+1177C>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 2457
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 481
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51529
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1385
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47402
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.338485e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: -1.279e0

VQSLOD
type: SiteQuality
SIO_000300: -4.004e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

FS
type: SiteQuality
SIO_000300: 1.591e0

QD
type: SiteQuality
SIO_000300: 9.91e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000435515
gene symbol: SLC8A1-AS1
hgvsc: ENST00000435515.1:n.125+132G>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000443515
ensembl transcript: ENST00000542024
gene symbol: SLC8A1
hgvsc: ENST00000542024.1:c.2782C>A
hgvsp: ENSP00000443515.1:p.Leu928Met
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000386116
ensembl transcript: ENST00000407929
gene symbol: SLC8A1
hgvsc: ENST00000407929.2:c.*885C>A
variant of: http://identifiers.org/hgnc/11068

GenotypeDepth
all individuals: 186
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2478
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 451
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5283
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 51491
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1398
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47461
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.996007984031936e-4
allele num: 10020
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.341831e6

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.263e0

QD
type: SiteQuality
SIO_000300: 1.534e1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 6.463e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599956
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599956.1:n.206+1203A>C
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385678
ensembl transcript: ENST00000405901
gene symbol: SLC8A1
hgvsc: ENST00000405901.3:c.2854T>G
hgvsp: ENSP00000385678.3:p.Leu952Val
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599740
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599740.1:n.74-136378A>C
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2510
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5501
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51648
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47990
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

DP
type: SiteQuality
SIO_000300: 1.348686e6

QD
type: SiteQuality
SIO_000300: 1.503e1

FS
type: SiteQuality
SIO_000300: 3.168e0

MQRankSum
type: SiteQuality
SIO_000300: -8.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.53e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000383886
ensembl transcript: ENST00000406785
gene symbol: SLC8A1
hgvsc: ENST00000406785.2:c.2760C>G
hgvsp: ENST00000406785.2:c.2760C>G(p.%3D)
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599956
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599956.1:n.206+1204G>C
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1204G>C
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 71
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 5510
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2512
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51636
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 483
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 691
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7063
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47931
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1011
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

DP
type: SiteQuality
SIO_000300: 1.34885e6

FS
type: SiteQuality
SIO_000300: 5.34e0

QD
type: SiteQuality
SIO_000300: 1.145e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.519e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.42e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10367C>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599740
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599740.1:n.74-136355C>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000444629
gene symbol: SLC8A1-AS1
hgvsc: ENST00000444629.1:n.54+10367C>A
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 483
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 191
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 73
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2540
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 51597
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5628
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 12
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7084
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1392
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 697
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48095
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.092485549132948e-4
allele num: 8650
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 8.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.595e0

FS
type: SiteQuality
SIO_000300: 1.224e0

DP
type: SiteQuality
SIO_000300: 1.351913e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1237G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000435515
gene symbol: SLC8A1-AS1
hgvsc: ENST00000435515.1:n.125+187G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385535
ensembl transcript: ENST00000405269
gene symbol: SLC8A1
hgvsc: ENST00000405269.1:c.2727C>T
hgvsp: ENST00000405269.1:c.2727C>T(p.%3D)
variant of: http://identifiers.org/hgnc/11068

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 5644
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51584
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2546
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7079
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1385
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.484e0

MQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.154e0

VQSLOD
type: SiteQuality
SIO_000300: -2.331e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.351923e6

QD
type: SiteQuality
SIO_000300: 7.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599268
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599268.1:n.563+10391C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1250C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599740
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599740.1:n.74-136331C>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 51463
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2550
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 42
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5670
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 12
bin: 6.75e1
variant carriers: 7

GenotypeDepth
all individuals: 193
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.25e1
variant carriers: 4

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

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 4

GenotypeDepth
all individuals: 79
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 491
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.75e1
variant carriers: 7

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 8

GenotypeDepth
all individuals: 23
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 755
bin: 9.75e1
variant carriers: 63

GenotypeQuality
all individuals: 1383
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7075
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.098384244132018e-4
allele num: 66718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 27
allele frequency: 4.084720121028744e-3
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.049083995852057e-4
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.155802126675913e-3
allele num: 8652
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.355984e6

FS
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000444629
gene symbol: SLC8A1-AS1
hgvsc: ENST00000444629.1:n.54+10392G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000598247
gene symbol: SLC8A1-AS1
hgvsc: ENST00000598247.1:n.616+201G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000443515
ensembl transcript: ENST00000542024
gene symbol: SLC8A1
hgvsc: ENST00000542024.1:c.2713C>T
hgvsp: ENSP00000443515.1:p.Arg905Trp
variant of: http://identifiers.org/hgnc/11068

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2558
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51469
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 46
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5676
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48040
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 730
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7083
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

DP
type: SiteQuality
SIO_000300: 1.353891e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 2.492e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.73e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593848
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593848.1:n.219+204G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000443515
ensembl transcript: ENST00000542024
gene symbol: SLC8A1
hgvsc: ENST00000542024.1:c.2710C>T
hgvsp: ENSP00000443515.1:p.Pro904Ser
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000598247
gene symbol: SLC8A1-AS1
hgvsc: ENST00000598247.1:n.616+204G>A
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5686
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2552
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51453
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 5.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48022
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1392
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7082
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 729
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1386
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
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: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.219e0

FS
type: SiteQuality
SIO_000300: 9.96e-1

DP
type: SiteQuality
SIO_000300: 1.353929e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.785e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.615e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10408A>C
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599740
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599740.1:n.74-136314A>C
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1267A>C
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 26
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 17
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5719
bin: 2.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2578
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51293
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7084
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1392
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199328376109379e-4
allele num: 66704
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.891e-1

FS
type: SiteQuality
SIO_000300: 1.3607e1

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

QD
type: SiteQuality
SIO_000300: 1.427e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.357291e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000596532
gene symbol: SLC8A1-AS1
hgvsc: ENST00000596532.1:n.303+1273G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10414G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385678
ensembl transcript: ENST00000405901
gene symbol: SLC8A1
hgvsc: ENST00000405901.3:c.2784C>T
hgvsp: ENST00000405901.3:c.2784C>T(p.%3D)
variant of: http://identifiers.org/hgnc/11068

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5757
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2593
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 3.628e0

VQSLOD
type: SiteQuality
SIO_000300: -1.109e0

MQ
type: SiteQuality
SIO_000300: 5.616e1

DP
type: SiteQuality
SIO_000300: 1.356395e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.102e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.169e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1280G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599268
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599268.1:n.563+10421G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000601679
gene symbol: SLC8A1-AS1
hgvsc: ENST00000601679.1:n.404+1280G>A
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 13
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 219
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 531
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51217
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2622
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5803
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7121
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.916e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.291e0

QD
type: SiteQuality
SIO_000300: 9.66e0

FS
type: SiteQuality
SIO_000300: 1.1139e1

DP
type: SiteQuality
SIO_000300: 1.357014e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.25e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593848
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593848.1:n.219+234T>C
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000444629
gene symbol: SLC8A1-AS1
hgvsc: ENST00000444629.1:n.54+10425T>C
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599740
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599740.1:n.74-136297T>C
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 9
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2634
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5805
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 560
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 51034
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7095
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.323e0

FS
type: SiteQuality
SIO_000300: 1.11807e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.956e0

MQ
type: SiteQuality
SIO_000300: 5.857e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -6.412e1

QD
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.363193e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599740
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599740.1:n.74-136294G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593848
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593848.1:n.219+237G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000596532
gene symbol: SLC8A1-AS1
hgvsc: ENST00000596532.1:n.303+1287G>A
variant of: http://identifiers.org/hgnc/44102

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

GenotypeDepth
all individuals: 5844
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 51001
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2652
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1407
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 419
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.363862e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 1.745e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.366e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000601679
gene symbol: SLC8A1-AS1
hgvsc: ENST00000601679.1:n.404+1287G>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1287G>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593878
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593878.1:n.105-2922G>T
variant of: http://identifiers.org/hgnc/44102

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

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

GenotypeDepth
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 563
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5844
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 51001
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 11
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 49
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2652
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 894
bin: 9.75e1
variant carriers: 20

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

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

GenotypeQuality
all individuals: 13
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7114
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 20
allele frequency: 1.921968095329617e-3
allele num: 10406
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

QD
type: SiteQuality
SIO_000300: 1.366e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.363862e6

FS
type: SiteQuality
SIO_000300: 1.745e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1290G>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000435515
gene symbol: SLC8A1-AS1
hgvsc: ENST00000435515.1:n.125+240G>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000598247
gene symbol: SLC8A1-AS1
hgvsc: ENST00000598247.1:n.616+240G>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 562
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2660
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 51005
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5849
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7122
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1428
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47807
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 419
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.469e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.009e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 1.363161e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385535
ensembl transcript: ENST00000405269
gene symbol: SLC8A1
hgvsc: ENST00000405269.1:c.2670G>A
hgvsp: ENST00000405269.1:c.2670G>A(p.%3D)
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000444629
gene symbol: SLC8A1-AS1
hgvsc: ENST00000444629.1:n.54+10435C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593878
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593878.1:n.105-2915C>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2663
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 51009
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5849
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47814
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.75e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 1430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7123
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 10406
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.885e1

VQSLOD
type: SiteQuality
SIO_000300: -1.77e0

QD
type: SiteQuality
SIO_000300: 1.178e1

DP
type: SiteQuality
SIO_000300: 1.363269e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.902e0

FS
type: SiteQuality
SIO_000300: 7.813e0

MQRankSum
type: SiteQuality
SIO_000300: -1.003e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000601679
gene symbol: SLC8A1-AS1
hgvsc: ENST00000601679.1:n.404+1303C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1303C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599740
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599740.1:n.74-136278C>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51001
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5857
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2661
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1046
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 1430
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7119
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

MQRankSum
type: SiteQuality
SIO_000300: 8.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.363384e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593878
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593878.1:n.105-2903C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10447C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000601679
gene symbol: SLC8A1-AS1
hgvsc: ENST00000601679.1:n.404+1306C>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 11
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 51
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50991
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5862
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2664
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 566
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47814
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1413
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1044
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 886
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

DP
type: SiteQuality
SIO_000300: 1.36368e6

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

QD
type: SiteQuality
SIO_000300: 1.245e1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e-1

FS
type: SiteQuality
SIO_000300: 5.337e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.193e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599740
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599740.1:n.74-136251G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593878
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593878.1:n.105-2879G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1330G>A
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2680
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50907
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5897
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1416
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7127
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.364148e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.85e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 2.55e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385535
ensembl transcript: ENST00000405269
gene symbol: SLC8A1
hgvsc: ENST00000405269.1:c.2625C>T
hgvsp: ENST00000405269.1:c.2625C>T(p.%3D)
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599956
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599956.1:n.206+1339G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10480G>A
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5920
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2684
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50860
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 1

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

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

GenotypeDepth
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7133
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1414
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1429
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.625e0

VQSLOD
type: SiteQuality
SIO_000300: -6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.784e0

MQ
type: SiteQuality
SIO_000300: 5.885e1

QD
type: SiteQuality
SIO_000300: 8.15e0

DP
type: SiteQuality
SIO_000300: 1.364269e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000386116
ensembl transcript: ENST00000407929
gene symbol: SLC8A1
hgvsc: ENST00000407929.2:c.*711A>T
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1356T>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000596532
gene symbol: SLC8A1-AS1
hgvsc: ENST00000596532.1:n.303+1356T>A
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50762
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5954
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 51
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2705
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47602
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1440
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 891
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.046e0

QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.364815e6

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000601679
gene symbol: SLC8A1-AS1
hgvsc: ENST00000601679.1:n.404+1357G>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000444629
gene symbol: SLC8A1-AS1
hgvsc: ENST00000444629.1:n.54+10498G>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10498G>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 100
bin: 9.75e1
variant carriers: 95

GenotypeDepth
all individuals: 5884
bin: 2.75e1
variant carriers: 15

GenotypeDepth
all individuals: 618
bin: 3.75e1
variant carriers: 45

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

GenotypeDepth
all individuals: 307
bin: 4.25e1
variant carriers: 60

GenotypeDepth
all individuals: 88
bin: 6.75e1
variant carriers: 66

GenotypeDepth
all individuals: 215
bin: 4.75e1
variant carriers: 87

GenotypeDepth
all individuals: 50003
bin: 2.25e1
variant carriers: 6

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

GenotypeDepth
all individuals: 124
bin: 6.25e1
variant carriers: 85

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

GenotypeDepth
all individuals: 158
bin: 5.75e1
variant carriers: 110

GenotypeDepth
all individuals: 2697
bin: 3.25e1
variant carriers: 30

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 23

GenotypeDepth
all individuals: 75
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 67
bin: 7.75e1
variant carriers: 57

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 30

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 96

GenotypeDepth
all individuals: 76
bin: 7.25e1
variant carriers: 60

GenotypeDepth
all individuals: 36
bin: 8.25e1
variant carriers: 30

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1025
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1762
bin: 9.75e1
variant carriers: 893

GenotypeQuality
all individuals: 46911
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 673
allele frequency: 1.008481433751911e-2
allele num: 66734
num of homozygotes: 1

African
type: Population
allele count: 16
allele frequency: 1.537574476263694e-3
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 40
allele frequency: 3.456619426201175e-3
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.506607929515419e-3
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 76
allele frequency: 4.602713178294574e-3
allele num: 16512
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 86
allele frequency: 1.30027214998488e-2
allele num: 6614
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.361e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.443e0

DP
type: SiteQuality
SIO_000300: 1.402539e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385678
ensembl transcript: ENST00000405901
gene symbol: SLC8A1
hgvsc: ENST00000405901.3:c.2693C>T
hgvsp: ENSP00000385678.3:p.Ser898Phe
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10505G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599956
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599956.1:n.206+1364G>A
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 2816
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6031
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 705
bin: 3.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 386
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49906
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 259
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1086
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1437
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

East Asian
type: Population
allele count: 12
allele frequency: 1.386962552011096e-3
allele num: 8652
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.901e0

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 1.385163e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000598247
gene symbol: SLC8A1-AS1
hgvsc: ENST00000598247.1:n.616+330C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599268
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599268.1:n.563+10521C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10521C>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 390
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 260
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49752
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6110
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 730
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2878
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46895
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1096
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7121
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

DP
type: SiteQuality
SIO_000300: 1.386873e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10526T>C
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1385T>C
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000601679
gene symbol: SLC8A1-AS1
hgvsc: ENST00000601679.1:n.404+1385T>C
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6125
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 393
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 49682
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2910
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1521
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7140
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.198e1

FS
type: SiteQuality
SIO_000300: 2.11e0

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 1.387545e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599268
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599268.1:n.563+10533C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000435515
gene symbol: SLC8A1-AS1
hgvsc: ENST00000435515.1:n.125+342C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10533C>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2942
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6127
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49609
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 764
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 591
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7152
bin: 6.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.64e-2

FS
type: SiteQuality
SIO_000300: 1.093e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.018e0

DP
type: SiteQuality
SIO_000300: 1.388528e6

QD
type: SiteQuality
SIO_000300: 1.318e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593848
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593848.1:n.219+343G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599956
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599956.1:n.206+1393G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385678
ensembl transcript: ENST00000405901
gene symbol: SLC8A1
hgvsc: ENST00000405901.3:c.2664C>T
hgvsp: ENST00000405901.3:c.2664C>T(p.%3D)
variant of: http://identifiers.org/hgnc/11068

GenotypeDepth
all individuals: 401
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 74
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6133
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2947
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49608
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 753
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 264
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1365
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46762
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7162
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 1.121e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 1.388533e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 2.38e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10558G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593878
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593878.1:n.105-2792G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599956
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599956.1:n.206+1417G>A
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 20
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 5.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 781
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 49348
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 415
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3036
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6250
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46642
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7192
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.252e1

DP
type: SiteQuality
SIO_000300: 1.391318e6

FS
type: SiteQuality
SIO_000300: 1.748e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000601679
gene symbol: SLC8A1-AS1
hgvsc: ENST00000601679.1:n.404+1441A>G
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000598247
gene symbol: SLC8A1-AS1
hgvsc: ENST00000598247.1:n.616+391A>G
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385188
ensembl transcript: ENST00000402441
gene symbol: SLC8A1
hgvsc: ENST00000402441.1:c.2523T>C
hgvsp: ENST00000402441.1:c.2523T>C(p.%3D)
variant of: http://identifiers.org/hgnc/11068

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6300
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3109
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49149
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 813
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46533
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.41e0

FS
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.393547e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

VQSLOD
type: SiteQuality
SIO_000300: -6.413e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.93e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000598247
gene symbol: SLC8A1-AS1
hgvsc: ENST00000598247.1:n.616+394C>G
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599956
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599956.1:n.206+1444C>G
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597385
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597385.1:n.276+1444C>G
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 76
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 816
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 444
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6292
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 275
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 102
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 66
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3113
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 166
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 49110
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 2

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

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46481
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.844961240310077e-4
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
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: 8
allele frequency: 1.199400299850075e-4
allele num: 66700
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

QD
type: SiteQuality
SIO_000300: 1.428e1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.394379e6

FS
type: SiteQuality
SIO_000300: 1.725e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000385678
ensembl transcript: ENST00000405901
gene symbol: SLC8A1
hgvsc: ENST00000405901.3:c.2613G>A
hgvsp: ENST00000405901.3:c.2613G>A(p.%3D)
variant of: http://identifiers.org/hgnc/11068

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000596532
gene symbol: SLC8A1-AS1
hgvsc: ENST00000596532.1:n.303+1444C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593848
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593848.1:n.219+394C>T
variant of: http://identifiers.org/hgnc/44102

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6292
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49110
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3113
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 816
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 166
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 444
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7203
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46481
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1423
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1598
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.725e0

DP
type: SiteQuality
SIO_000300: 1.394379e6

QD
type: SiteQuality
SIO_000300: 1.428e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000593878
gene symbol: SLC8A1-AS1
hgvsc: ENST00000593878.1:n.105-2762C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000597170
gene symbol: SLC8A1-AS1
hgvsc: ENST00000597170.1:n.104+10588C>T
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000386116
ensembl transcript: ENST00000407929
gene symbol: SLC8A1
hgvsc: ENST00000407929.2:c.*620G>A
variant of: http://identifiers.org/hgnc/11068

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

GenotypeDepth
all individuals: 30
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 49048
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 823
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 79
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 52
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 172
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 277
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 6304
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3115
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 451
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 10
bin: 9.25e1
variant carriers: 5

GenotypeDepth
all individuals: 107
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 480
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46431
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 9.75e1
variant carriers: 35

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.648233671204942e-4
allele num: 66692
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.592912705272256e-4
allele num: 11570
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.14e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
type: SiteQuality
SIO_000300: 1.39537e6

MQ
type: SiteQuality
SIO_000300: 5.964e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599268
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599268.1:n.563+10589G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000227028
ensembl transcript: ENST00000599956
gene symbol: SLC8A1-AS1
hgvsc: ENST00000599956.1:n.206+1448G>A
variant of: http://identifiers.org/hgnc/44102

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000183023
ensembl protein: ENSP00000383886
ensembl transcript: ENST00000406785
gene symbol: SLC8A1
hgvsc: ENST00000406785.2:c.2516C>T
hgvsp: ENSP00000383886.1:p.Ala839Val
variant of: http://identifiers.org/hgnc/11068

GenotypeDepth
all individuals: 6314
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 452
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 49043
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 826
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3125
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46470
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0