12-344274-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344274
    reference: chr 12
allele count: 17
allele frequency: 1.400421774087255e-4
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.537G>C
  hgvsp: ENST00000445055.2:c.537G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.813G>C
  hgvsp: ENST00000343164.4:c.813G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.201G>C
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9714
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 9906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr271Thr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

12-344274-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344274
    reference: chr 12
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.537G>A
  hgvsp: ENST00000445055.2:c.537G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.813G>A
  hgvsp: ENST00000343164.4:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.201G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9714
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr271Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

12-344275-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344275
    reference: chr 12
allele count: 7
allele frequency: 5.766252594813668e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.812C>T
  hgvsp: ENSP00000339260.4:p.Thr271Met
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.536C>T
  hgvsp: ENSP00000407104.2:p.Thr179Met
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.200C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9910
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9701
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 23982
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr271Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-344275-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344275
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.812C>A
  hgvsp: ENSP00000339260.4:p.Thr271Lys
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.536C>A
  hgvsp: ENSP00000407104.2:p.Thr179Lys
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.200C>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9910
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr271Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

12-344282-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344282
    reference: chr 12
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.805A>C
  hgvsp: ENSP00000339260.4:p.Asn269His
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.193A>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.529A>C
  hgvsp: ENSP00000407104.2:p.Asn177His
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9694
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn269His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

12-344285-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344285
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344285
    reference: chr 12
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.526C>G
  hgvsp: ENSP00000407104.2:p.Pro176Ala
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.802C>G
  hgvsp: ENSP00000339260.4:p.Pro268Ala
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.190C>G
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9910
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9692
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro268Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-344290-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344290
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344290
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.797T>C
  hgvsp: ENSP00000339260.4:p.Leu266Pro
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.521T>C
  hgvsp: ENSP00000407104.2:p.Leu174Pro
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.185T>C
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu266Pro
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

12-344298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344298
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344298
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.513G>A
  hgvsp: ENST00000445055.2:c.513G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.789G>A
  hgvsp: ENST00000343164.4:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.177G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
  variant carriers: 0
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: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24008
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln263Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-344300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344300
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344300
    reference: chr 12
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.511C>T
  hgvsp: ENSP00000407104.2:p.Gln171Ter
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.175C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.787C>T
  hgvsp: ENSP00000339260.4:p.Gln263Ter
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9909
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9689
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln263Ter
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-344307-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344307
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344307
    reference: chr 12
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.780A>G
  hgvsp: ENST00000343164.4:c.780A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.168A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.504A>G
  hgvsp: ENST00000445055.2:c.504A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9686
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln260Gln
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

12-344308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344308
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344308
    reference: chr 12
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.503A>G
  hgvsp: ENSP00000407104.2:p.Gln168Arg
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.167A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.779A>G
  hgvsp: ENSP00000339260.4:p.Gln260Arg
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21724
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9685
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln260Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-344310-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344310
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.165C>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.501C>A
  hgvsp: ENST00000445055.2:c.501C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.777C>A
  hgvsp: ENST00000343164.4:c.777C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23986
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala259Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-344314-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344314
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.161C>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.773C>A
  hgvsp: ENSP00000339260.4:p.Ala258Glu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.497C>A
  hgvsp: ENSP00000407104.2:p.Ala166Glu
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23998
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2347
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9680
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4003
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala258Glu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

12-344318-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344318
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.157G>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.493G>C
  hgvsp: ENSP00000407104.2:p.Gly165Arg
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.769G>C
  hgvsp: ENSP00000339260.4:p.Gly257Arg
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly257Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

12-344318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344318
    reference: chr 12
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.157G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.493G>A
  hgvsp: ENSP00000407104.2:p.Gly165Arg
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.769G>A
  hgvsp: ENSP00000339260.4:p.Gly257Arg
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9898
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9673
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly257Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

12-344321-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344321
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344321
    reference: chr 12
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.154C>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.766C>A
  hgvsp: ENSP00000339260.4:p.Pro256Thr
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.490C>A
  hgvsp: ENSP00000407104.2:p.Pro164Thr
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24022
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genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9892
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro256Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-344325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344325
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344325
    reference: chr 12
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.762G>A
  hgvsp: ENST00000343164.4:c.762G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.150G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.486G>A
  hgvsp: ENST00000445055.2:c.486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13537
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9668
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr254Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-344326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344326
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344326
    reference: chr 12
allele count: 8
allele frequency: 6.590328692643546e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.761C>T
  hgvsp: ENSP00000339260.4:p.Thr254Met
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.485C>T
  hgvsp: ENSP00000407104.2:p.Thr162Met
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.149C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24003
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9885
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr254Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

12-344330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344330
    reference: chr 12
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.757G>A
  hgvsp: ENSP00000339260.4:p.Val253Met
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.145G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.481G>A
  hgvsp: ENSP00000407104.2:p.Val161Met
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9657
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9880
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val253Met
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-344335-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344335
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344335
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.752G>C
  hgvsp: ENSP00000339260.4:p.Arg251Pro
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.476G>C
  hgvsp: ENSP00000407104.2:p.Arg159Pro
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.140G>C
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24036
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5147
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg251Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

12-344336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344336
    reference: chr 12
allele count: 21
allele frequency: 1.730217842665524e-4
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.475C>T
  hgvsp: ENSP00000407104.2:p.Arg159Ter
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.751C>T
  hgvsp: ENSP00000339260.4:p.Arg251Ter
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.139C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3800
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9654
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg251Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-344338-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344338
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344338
    reference: chr 12
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.137T>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.473T>C
  hgvsp: ENSP00000407104.2:p.Ile158Thr
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.749T>C
  hgvsp: ENSP00000339260.4:p.Ile250Thr
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5142
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 24065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9637
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile250Thr
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: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-344341-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344341
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344341
    reference: chr 12
allele count: 2
allele frequency: 1.647826516824309e-5
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.134T>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.470T>C
  hgvsp: ENSP00000407104.2:p.Leu157Ser
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.746T>C
  hgvsp: ENSP00000339260.4:p.Leu249Ser
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24048
  bin: 6.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9636
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu249Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/12-344347-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344347
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344347
    reference: chr 12
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.740T>G
  hgvsp: ENSP00000339260.4:p.Val247Gly
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.128T>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.464T>G
  hgvsp: ENSP00000407104.2:p.Val155Gly
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9629
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val247Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

12-344348-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344348
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344348
    reference: chr 12
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.463G>A
  hgvsp: ENSP00000407104.2:p.Val155Ile
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.739G>A
  hgvsp: ENSP00000339260.4:p.Val247Ile
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.127G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6472
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9628
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3983
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3795
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val247Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

12-344350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344350
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344350
    reference: chr 12
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.737T>C
  hgvsp: ENSP00000339260.4:p.Val246Ala
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.461T>C
  hgvsp: ENSP00000407104.2:p.Val154Ala
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.125T>C
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3978
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val246Ala
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-344357-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344357
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344357
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.454A>T
  hgvsp: ENSP00000407104.2:p.Met152Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.118A>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.730A>T
  hgvsp: ENSP00000339260.4:p.Met244Leu
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9618
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met244Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-344358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344358
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.453C>T
  hgvsp: ENST00000445055.2:c.453C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.117C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.729C>T
  hgvsp: ENST00000343164.4:c.729C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 8.75e1
  variant carriers: 0
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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9849
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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genotype quality: GenotypeQuality
  all individuals: 5105
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9617
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu243Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-344362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344362
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344362
    reference: chr 12
allele count: 6
allele frequency: 4.944620253164557e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.449A>G
  hgvsp: ENSP00000444606.1:p.Tyr150Cys
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.449A>G
  hgvsp: ENSP00000407104.2:p.Tyr150Cys
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.725A>G
  hgvsp: ENSP00000339260.4:p.Tyr242Cys
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.113A>G
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3806
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9618
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3961
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9831
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3768
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr242Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

12-344365-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344365
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344365
    reference: chr 12
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.722C>G
  hgvsp: ENSP00000339260.4:p.Pro241Arg
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.446C>G
  hgvsp: ENSP00000444606.1:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.110C>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.446C>G
  hgvsp: ENSP00000407104.2:p.Pro149Arg
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9608
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5091
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro241Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-344375-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344375
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344375
    reference: chr 12
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.436G>T
  hgvsp: ENSP00000407104.2:p.Ala146Ser
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.436G>T
  hgvsp: ENSP00000444606.1:p.Ala146Ser
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.100G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.712G>T
  hgvsp: ENSP00000339260.4:p.Ala238Ser
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9598
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala238Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-344376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344376
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344376
    reference: chr 12
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.435G>A
  hgvsp: ENST00000445055.2:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.711G>A
  hgvsp: ENST00000343164.4:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.99G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.435G>A
  hgvsp: ENST00000546319.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9591
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr237Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-344377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344377
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344377
    reference: chr 12
allele count: 9
allele frequency: 7.421578652241316e-5
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.710C>T
  hgvsp: ENSP00000339260.4:p.Thr237Met
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.98C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.434C>T
  hgvsp: ENSP00000407104.2:p.Thr145Met
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.434C>T
  hgvsp: ENSP00000444606.1:p.Thr145Met
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9584
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr237Met
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-344379-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344379
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344379
    reference: chr 12
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.96C>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.432C>A
  hgvsp: ENSP00000407104.2:p.Phe144Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.708C>A
  hgvsp: ENSP00000339260.4:p.Phe236Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.432C>A
  hgvsp: ENSP00000444606.1:p.Phe144Leu
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9572
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9747
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe236Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-344393-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344393
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344393
    reference: chr 12
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.421-3C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.697-3C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.85-3C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.421-3C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23798
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9550
  bin: 9.75e1
  variant carriers: 2
hgvs: c.697-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

12-344395-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344395
    reference: chr 12
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.85-5A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.421-5A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.697-5A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.421-5A>G
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
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genotype quality: GenotypeQuality
  all individuals: 23778
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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: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
hgvs: c.697-5A>G
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

12-344397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344397
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344397
    reference: chr 12
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.421-7T>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.85-7T>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.697-7T>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.421-7T>C
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
hgvs: c.697-7T>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

12-344406-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344406
    reference: chr 12
allele count: 2
allele frequency: 1.650873311982039e-5
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.85-16A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.421-16A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.421-16A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.697-16A>G
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

12-344432-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344432
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344432
    reference: chr 12
allele count: 3
allele frequency: 2.482251898922703e-5
allele num: 120858
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.421-42C>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.697-42C>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.85-42C>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.421-42C>G
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15148
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9482
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15604
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-344436-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344436
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344436
    reference: chr 12
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.85-46G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.697-46G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.421-46G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.421-46G>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6759
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3114
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genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

12-344437-AGCAGGGGCAGGAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344437
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344424
    reference: chr 12
allele count: 2
allele frequency: 1.656643970644269e-5
allele num: 120726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9475
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: AGCAGGGGCAGGAG
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-344437-A-AGCAGGGGCAGGAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344437
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344450
    reference: chr 12
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: AGCAGGGGCAGGAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9837
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3973
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3328
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-344442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 344442
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 344442
    reference: chr 12
allele count: 1
allele frequency: 8.305371914554334e-6
allele num: 120404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.421-52C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.697-52C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.421-52C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.85-52C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13039
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4555
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-346274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346274
    reference: chr 12
allele count: 1
allele frequency: 8.40039649871474e-6
allele num: 119042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.799C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+50C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+50C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+50C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+50C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25092
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-346274-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346274
    reference: chr 12
allele count: 4
allele frequency: 3.360158599485896e-5
allele num: 119042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+50C>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+50C>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+50C>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.799C>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+50C>A
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6424
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4338
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-346276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346276
    reference: chr 12
allele count: 1
allele frequency: 8.39785686692756e-6
allele num: 119078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+48C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+48C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.797C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+48C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+48C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-346278-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346278
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346278
    reference: chr 12
allele count: 1
allele frequency: 8.398421096833796e-6
allele num: 119070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+46C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.795C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+46C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+46C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+46C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6426
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25087
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-346280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346280
    reference: chr 12
allele count: 1
allele frequency: 8.39630562552477e-6
allele num: 119100
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+44C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+44C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+44C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+44C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.793C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

12-346289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346289
    reference: chr 12
allele count: 164
allele frequency: 1.375631196631381e-3
allele num: 119218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+35G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+35G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.784G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+35G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+35G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
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  variant carriers: 2
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: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 9.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 270
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  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 52
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
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: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

12-346290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346290
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346290
    reference: chr 12
allele count: 11
allele frequency: 9.2185981026449e-5
allele num: 119324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+34C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+34C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.783C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+34C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+34C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24998
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

12-346310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346310
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346310
    reference: chr 12
allele count: 2
allele frequency: 1.664779916095092e-5
allele num: 120136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.763G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+14G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+14G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+14G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+14G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24991
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

12-346311-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346311
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346312
    reference: chr 12
allele count: 2
allele frequency: 1.663312320154355e-5
allele num: 120242
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.761dupG
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+12dupG
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+12dupG
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+12dupG
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+12dupG
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7578
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3729
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ

12-346313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346313
    reference: chr 12
allele count: 2
allele frequency: 1.661930165694438e-5
allele num: 120342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+11G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+11G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+11G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+11G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.760G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7577
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4034
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4083
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24989
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-346317-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346317
    reference: chr 12
allele count: 3
allele frequency: 2.490163852781513e-5
allele num: 120474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+7G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+7G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+7G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+7G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.756G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.524G>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
hgvs: c.696+7G>T
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

12-346317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346317
    reference: chr 12
allele count: 2
allele frequency: 1.660109235187675e-5
allele num: 120474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.524G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+7G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.756G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+7G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+7G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+7G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24990
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
hgvs: c.696+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

12-346319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346319
    reference: chr 12
allele count: 5
allele frequency: 4.147725387397552e-5
allele num: 120548
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+5G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.754G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+5G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.522G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+5G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+5G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3731
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 6.75e1
  variant carriers: 0
hgvs: c.696+5G>A
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

12-346320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346320
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346320
    reference: chr 12
allele count: 1417
allele frequency: 1.174861122626648e-2
allele num: 120610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.420+4C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.420+4C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.753C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.696+4C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.521C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.84+4C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 2.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6421
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 9.75e1
  variant carriers: 904
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
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  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7967
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.75e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 2.25e1
  variant carriers: 0
hgvs: c.696+4C>T
num of homozygotes: 44
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-346336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346336
    reference: chr 12
allele count: 6
allele frequency: 4.960235445842496e-5
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.684G>A
  hgvsp: ENST00000343164.4:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.72G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.408G>A
  hgvsp: ENST00000445055.2:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.505G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.408G>A
  hgvsp: ENST00000546319.1:c.408G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.737G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24325
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Lys228Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-346339-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346339
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346339
    reference: chr 12
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.405G>A
  hgvsp: ENST00000445055.2:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.681G>A
  hgvsp: ENST00000343164.4:c.681G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.734G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.405G>A
  hgvsp: ENST00000546319.1:c.405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.69G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.502G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val227Val
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-346343-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346343
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346343
    reference: chr 12
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.65G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.677G>T
  hgvsp: ENSP00000339260.4:p.Gly226Val
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.498G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.401G>T
  hgvsp: ENSP00000407104.2:p.Gly134Val
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.401G>T
  hgvsp: ENSP00000444606.1:p.Gly134Val
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.730G>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly226Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

12-346343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346343
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346343
    reference: chr 12
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.730G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.498G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.401G>A
  hgvsp: ENSP00000407104.2:p.Gly134Glu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.401G>A
  hgvsp: ENSP00000444606.1:p.Gly134Glu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.677G>A
  hgvsp: ENSP00000339260.4:p.Gly226Glu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.65G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly226Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/12-346344-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346344
    reference: chr 12
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.400G>T
  hgvsp: ENSP00000407104.2:p.Gly134Trp
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.64G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.497G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.729G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.400G>T
  hgvsp: ENSP00000444606.1:p.Gly134Trp
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.676G>T
  hgvsp: ENSP00000339260.4:p.Gly226Trp
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4841
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24319
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14215
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly226Trp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-346368-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346368
    reference: chr 12
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.652A>G
  hgvsp: ENSP00000339260.4:p.Ile218Val
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.40A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.705A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.473A>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.376A>G
  hgvsp: ENSP00000407104.2:p.Ile126Val
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.376A>G
  hgvsp: ENSP00000444606.1:p.Ile126Val
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile218Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

12-346368-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346368
    reference: chr 12
allele count: 2
allele frequency: 1.651336757104876e-5
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.376A>C
  hgvsp: ENSP00000444606.1:p.Ile126Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.652A>C
  hgvsp: ENSP00000339260.4:p.Ile218Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.705A>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.40A>C
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.376A>C
  hgvsp: ENSP00000407104.2:p.Ile126Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.473A>C
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile218Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-346371-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346371
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346371
    reference: chr 12
allele count: 2
allele frequency: 1.651773178507128e-5
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.649G>T
  hgvsp: ENSP00000339260.4:p.Val217Phe
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.702G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.373G>T
  hgvsp: ENSP00000444606.1:p.Val125Phe
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.37G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.373G>T
  hgvsp: ENSP00000407104.2:p.Val125Phe
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.470G>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24318
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val217Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-346380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346380
    reference: chr 12
allele count: 4
allele frequency: 3.303491790822899e-5
allele num: 121084
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.640C>T
  hgvsp: ENST00000343164.4:c.640C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.461C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.693C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.28C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.364C>T
  hgvsp: ENST00000445055.2:c.364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.364C>T
  hgvsp: ENST00000546319.1:c.364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6535
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24317
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14289
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu214Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/12-346396-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346396
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346396
    reference: chr 12
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.348G>T
  hgvsp: ENST00000445055.2:c.348G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.445G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.348G>T
  hgvsp: ENST00000546319.1:c.348G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.12G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.624G>T
  hgvsp: ENST00000343164.4:c.624G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.677G>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu208Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

12-346398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346398
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346398
    reference: chr 12
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.675C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.622C>T
  hgvsp: ENST00000343164.4:c.622C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.443C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.346C>T
  hgvsp: ENST00000546319.1:c.346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.346C>T
  hgvsp: ENST00000445055.2:c.346C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.10C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu208Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-346398-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346398
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346398
    reference: chr 12
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.622C>G
  hgvsp: ENSP00000339260.4:p.Leu208Val
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.346C>G
  hgvsp: ENSP00000407104.2:p.Leu116Val
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.443C>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.346C>G
  hgvsp: ENSP00000444606.1:p.Leu116Val
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.10C>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.675C>G
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu208Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

12-346402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346402
    reference: chr 12
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.6G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.342G>A
  hgvsp: ENSP00000444606.1:p.Trp114Ter
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.618G>A
  hgvsp: ENSP00000339260.4:p.Trp206Ter
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.342G>A
  hgvsp: ENSP00000407104.2:p.Trp114Ter
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.439G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.671G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Trp206Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-346406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346406
    reference: chr 12
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.435G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.667G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.614G>A
  hgvsp: ENSP00000339260.4:p.Arg205His
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.338G>A
  hgvsp: ENSP00000444606.1:p.Arg113His
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.338G>A
  hgvsp: ENSP00000407104.2:p.Arg113His
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.2G>A
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg205His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-346406-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346406
    reference: chr 12
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.2G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.338G>T
  hgvsp: ENSP00000444606.1:p.Arg113Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.614G>T
  hgvsp: ENSP00000339260.4:p.Arg205Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.435G>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.338G>T
  hgvsp: ENSP00000407104.2:p.Arg113Leu
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.667G>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg205Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-346407-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346407
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346407
    reference: chr 12
allele count: 43
allele frequency: 3.555423260736551e-4
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000542379
  gene symbol: SLC6A13
  hgvsc: ENST00000542379.1:n.1C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.434C>T
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.337C>T
  hgvsp: ENSP00000407104.2:p.Arg113Cys
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.337C>T
  hgvsp: ENSP00000444606.1:p.Arg113Cys
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.613C>T
  hgvsp: ENSP00000339260.4:p.Arg205Cys
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.666C>T
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6540
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24316
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14019
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg205Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-346412-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346412
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346412
    reference: chr 12
allele count: 1
allele frequency: 8.271982794275789e-6
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.608C>G
  hgvsp: ENSP00000339260.4:p.Ala203Gly
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.332C>G
  hgvsp: ENSP00000407104.2:p.Ala111Gly
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.661C>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.429C>G
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.332C>G
  hgvsp: ENSP00000444606.1:p.Ala111Gly
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24292
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4822
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala203Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

12-346413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 346413
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 346413
    reference: chr 12
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000339260
  ensembl transcript: ENST00000343164
  gene symbol: SLC6A13
  hgvsc: ENST00000343164.4:c.607G>A
  hgvsp: ENSP00000339260.4:p.Ala203Thr
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000536842
  gene symbol: SLC6A13
  hgvsc: ENST00000536842.1:n.660G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000407104
  ensembl transcript: ENST00000445055
  gene symbol: SLC6A13
  hgvsc: ENST00000445055.2:c.331G>A
  hgvsp: ENSP00000407104.2:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000010379
  ensembl transcript: ENST00000534887
  gene symbol: SLC6A13
  hgvsc: ENST00000534887.1:n.428G>A
  variant of: http://identifiers.org/hgnc/11046
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000010379
  ensembl protein: ENSP00000444606
  ensembl transcript: ENST00000546319
  gene symbol: SLC6A13
  hgvsc: ENST00000546319.1:c.331G>A
  hgvsp: ENSP00000444606.1:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/11046
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala203Thr
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 2346
bin: 9.25e1
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: 15
allele frequency: 1.441753171856978e-3
allele num: 10404
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: 16510
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

DP
type: SiteQuality
SIO_000300: 2.069857e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.182e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 4007
bin: 7.25e1
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: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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: 10404
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.069857e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
all individuals: 5155
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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 4
allele frequency: 5.994125756758376e-5
allele num: 66732
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.137e0

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 2.069277e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 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: 10404
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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 2.069277e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.23e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.137e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

GenotypeQuality
all individuals: 1754
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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.996973057212216e-5
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.24e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

FS
type: SiteQuality
SIO_000300: 1.325e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e0

DP
type: SiteQuality
SIO_000300: 2.069008e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 23998
bin: 6.25e1
variant carriers: 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

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

European (Non-Finnish)
type: Population
allele count: 3
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East Asian
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South Asian
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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QD
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MQ
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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Latino
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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MQRankSum
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FS
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DP
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GenotypeQuality
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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African
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South Asian
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East Asian
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

Latino
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African
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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num of homozygotes: 0

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

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

African
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East Asian
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Other
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Latino
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South Asian
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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QD
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DP
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

East Asian
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South Asian
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Latino
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Other
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MQRankSum
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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QD
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MQRankSum
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VQSLOD
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GenotypeQuality
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Other
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African
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Latino
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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VQSLOD
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MQ
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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Latino
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South Asian
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African
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Latino
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South Asian
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MQ
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FS
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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Other
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BaseQRankSum
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MQRankSum
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QD
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DP
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ClippingRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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allele num: 10406
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Latino
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East Asian
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

ReadPosRankSum
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DP
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MQRankSum
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FS
type: SiteQuality
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QD
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10404
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 8.479709267110841e-4
allele num: 16510
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East Asian
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European (Non-Finnish)
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num of homozygotes: 0

DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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QD
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.056935190793458e-5
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele num: 10404
num of homozygotes: 0

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

East Asian
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South Asian
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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: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

FS
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MQRankSum
type: SiteQuality
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QD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.065366e6

VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

African
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allele num: 10404
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South Asian
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allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

Other
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.21153380179307e-4
allele num: 16508
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

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

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

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.064595e6

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

MQ
type: SiteQuality
SIO_000300: 5.816e1

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

QD
type: SiteQuality
SIO_000300: 1.765e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

Other
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allele count: 0
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num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.063242e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.4e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10396
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele num: 8654
num of homozygotes: 0

Other
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num of homozygotes: 0

South Asian
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allele frequency: 3.63460140537921e-4
allele num: 16508
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele num: 11564
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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FS
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele frequency: 1.499745043342632e-5
allele num: 66678
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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South Asian
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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DP
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QD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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allele frequency: 8.659508139937652e-5
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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QD
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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SIO_000300: -1.322e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 9
allele frequency: 5.452562704471102e-4
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.379e0

DP
type: SiteQuality
SIO_000300: 2.057959e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.386e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-2

DP
type: SiteQuality
SIO_000300: 2.055792e6

FS
type: SiteQuality
SIO_000300: 1.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -5.477e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
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: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 3.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.044e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.984e0

DP
type: SiteQuality
SIO_000300: 2.044823e6

QD
type: SiteQuality
SIO_000300: 1.282e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 8644
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MQ
type: SiteQuality
SIO_000300: 5.913e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

DP
type: SiteQuality
SIO_000300: 2.042798e6

FS
type: SiteQuality
SIO_000300: 1.395e0

QD
type: SiteQuality
SIO_000300: 5.54e0

VQSLOD
type: SiteQuality
SIO_000300: -1.947e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.768e0

QD
type: SiteQuality
SIO_000300: 1.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 2.039718e6

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e-1

FS
type: SiteQuality
SIO_000300: 1.772e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002912825440678e-5
allele num: 66602
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.002e0

FS
type: SiteQuality
SIO_000300: 4.777e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.055e1

VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 2.025417e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.823043266893534e-4
allele num: 16456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.934016e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.544e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.085686465433301e-5
allele num: 16432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.216397031991242e-4
allele num: 16442
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506205566935775e-5
allele num: 66392
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

South Asian
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allele frequency: 6.092360180333861e-5
allele num: 16414
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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Latino
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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: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.425e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

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: 4

GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.055101422948834e-4
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 3.994e0

QD
type: SiteQuality
SIO_000300: 1.425e1

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.717e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 2.53386e6

GenotypeQuality
all individuals: 504
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 25088
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4021
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.792401096748923e-5
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65758
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15482
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.144e0

DP
type: SiteQuality
SIO_000300: 2.5344e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 1.258e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.372e0

FS
type: SiteQuality
SIO_000300: 1.1679e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 1103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4056
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 364
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GenotypeQuality
all individuals: 3870
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.461617989144482e-5
allele num: 15476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65754
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

QD
type: SiteQuality
SIO_000300: 1.045e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.587e0

MQ
type: SiteQuality
SIO_000300: 5.766e1

DP
type: SiteQuality
SIO_000300: 2.535407e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

GenotypeQuality
all individuals: 311
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1060
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
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variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.597e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e0

DP
type: SiteQuality
SIO_000300: 2.536253e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2083
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variant carriers: 0

GenotypeQuality
all individuals: 3867
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.121076233183856e-3
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038682427299523e-5
allele num: 65818
num of homozygotes: 0

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

East Asian
type: Population
allele count: 158
allele frequency: 1.840204984859073e-2
allele num: 8586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

DP
type: SiteQuality
SIO_000300: 2.548132e6

FS
type: SiteQuality
SIO_000300: 1.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

VQSLOD
type: SiteQuality
SIO_000300: 4.29e0

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 10340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2092
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variant carriers: 0

GenotypeQuality
all individuals: 3878
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.076810889645114e-5
allele num: 65824
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.55591054313099e-4
allele num: 15650
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.287e1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.539424e6

GenotypeQuality
all individuals: 3878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4033
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025077895755816e-5
allele num: 66114
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.182e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

DP
type: SiteQuality
SIO_000300: 2.565949e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.063e0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 81
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023157385573493e-5
allele num: 66156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.566954e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.1e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
all individuals: 12914
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 1
allele frequency: 6.184291898577613e-5
allele num: 16170
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

FS
type: SiteQuality
SIO_000300: 1.1003e1

BaseQRankSum
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SIO_000300: -3.052e0

QD
type: SiteQuality
SIO_000300: 1.395e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 93
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GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.528848766643519e-5
allele num: 66242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 16236
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.573009e6

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 130
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variant carriers: 0

GenotypeQuality
all individuals: 4089
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.231830500123183e-4
allele num: 16236
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 2.573009e6

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.855e0

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 3877
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 2190
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GenotypeQuality
all individuals: 2091
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.527618472683369e-5
allele num: 66260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

DP
type: SiteQuality
SIO_000300: 2.574502e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

QD
type: SiteQuality
SIO_000300: 1.207e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.075e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4077
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4026
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25162
bin: 9.75e1
variant carriers: 1368

GenotypeQuality
all individuals: 54
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 52
allele frequency: 7.869249394673124e-3
allele num: 6608
num of homozygotes: 0

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

Other
type: Population
allele count: 9
allele frequency: 9.95575221238938e-3
allele num: 904
num of homozygotes: 0

Latino
type: Population
allele count: 63
allele frequency: 5.449826989619377e-3
allele num: 11560
num of homozygotes: 1

South Asian
type: Population
allele count: 5
allele frequency: 3.064476587398872e-4
allele num: 16316
num of homozygotes: 0

African
type: Population
allele count: 951
allele frequency: 9.21154591243704e-2
allele num: 10324
num of homozygotes: 43

European (Non-Finnish)
type: Population
allele count: 337
allele frequency: 5.084029810216335e-3
allele num: 66286
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 2.609952e6

QD
type: SiteQuality
SIO_000300: 1.363e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.09e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.03179190751445e-5
allele num: 66432
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.106e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e0

QD
type: SiteQuality
SIO_000300: 1.271e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.519434e6

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4190
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2242
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14083
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.974e0

FS
type: SiteQuality
SIO_000300: 2.357e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.44e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

DP
type: SiteQuality
SIO_000300: 2.519643e6

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4844
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 2.905e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.049e1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 2.520563e6

GenotypeQuality
all individuals: 4193
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 2.520563e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 2.905e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.049e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

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

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

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4117
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3927
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.520425e6

FS
type: SiteQuality
SIO_000300: 5.806e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

VQSLOD
type: SiteQuality
SIO_000300: 6.12e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

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

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

GenotypeQuality
all individuals: 255
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24320
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2255
bin: 7.25e1
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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 2.521721e6

QD
type: SiteQuality
SIO_000300: 1.127e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.534e0

GenotypeQuality
all individuals: 2255
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4199
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24320
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005891547432969e-5
allele num: 66536
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

DP
type: SiteQuality
SIO_000300: 2.521721e6

FS
type: SiteQuality
SIO_000300: 1.534e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

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

GenotypeQuality
all individuals: 52
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4201
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2125
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.315886984715146e-4
allele num: 8636
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e0

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

FS
type: SiteQuality
SIO_000300: 1.788e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

DP
type: SiteQuality
SIO_000300: 2.521208e6

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4118
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4203
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
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: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 3.268e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e0

DP
type: SiteQuality
SIO_000300: 2.520995e6

MQRankSum
type: SiteQuality
SIO_000300: 8.78e-1

GenotypeQuality
all individuals: 4835
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4119
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24314
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.691800736576855e-5
allele num: 10318
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: 16508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.525e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

DP
type: SiteQuality
SIO_000300: 2.518645e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.061e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e0

QD
type: SiteQuality
SIO_000300: 1.06e1

GenotypeQuality
all individuals: 73
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 8.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 4.965e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.014e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

DP
type: SiteQuality
SIO_000300: 2.518557e6

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4834
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.518557e6

QD
type: SiteQuality
SIO_000300: 1.105e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.014e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 4.965e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e-1

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

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24312
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4842
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 1.505253334136135e-5
allele num: 66434
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

FS
type: SiteQuality
SIO_000300: 1.0614e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.518314e6

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
SIO_000300: -1.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
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: 66424
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

DP
type: SiteQuality
SIO_000300: 2.517474e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

FS
type: SiteQuality
SIO_000300: 1.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

GenotypeQuality
all individuals: 476
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24311
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66424
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: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 1.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.76e-1

DP
type: SiteQuality
SIO_000300: 2.517474e6

GenotypeQuality
all individuals: 4116
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.011050555538828e-4
allele num: 66422
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
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: 8632
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.884249368809478e-4
allele num: 10298
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.296680497925311e-3
allele num: 11568
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

DP
type: SiteQuality
SIO_000300: 2.518261e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4202
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
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: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

DP
type: SiteQuality
SIO_000300: 2.514217e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -7.01e-1

FS
type: SiteQuality
SIO_000300: 7.838e0

QD
type: SiteQuality
SIO_000300: 1.069e1

MQ
type: SiteQuality
SIO_000300: 5.983e1