16-67986275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986275
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986275
    reference: chr 16
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.729G>A
  hgvsp: ENST00000576616.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.729G>A
  hgvsp: ENST00000316341.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.729G>A
  hgvsp: ENST00000338335.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.735G>A
  hgvsp: ENST00000422611.2:c.735G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.636G>A
  hgvsp: ENST00000541864.2:c.636G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.711G>A
  hgvsp: ENST00000537830.2:c.711G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.886G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.2051G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.729G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.378G>A
  hgvsp: ENST00000571299.1:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.*4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.585G>A
  hgvsp: ENST00000572037.1:c.585G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr245Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

16-67986276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986276
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986276
    reference: chr 16
allele count: 14
allele frequency: 1.153174524727357e-4
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.2050C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.377C>T
  hgvsp: ENSP00000464168.1:p.Thr126Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.728C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.728C>T
  hgvsp: ENSP00000318557.3:p.Thr243Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.734C>T
  hgvsp: ENSP00000395983.2:p.Thr245Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.635C>T
  hgvsp: ENSP00000438334.2:p.Thr212Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.710C>T
  hgvsp: ENSP00000445962.2:p.Thr237Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.584C>T
  hgvsp: ENSP00000461403.1:p.Thr195Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.728C>T
  hgvsp: ENSP00000343374.3:p.Thr243Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.728C>T
  hgvsp: ENSP00000458902.1:p.Thr243Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.885C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
hgvs: p.Thr245Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ

16-67986282-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986282
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986282
    reference: chr 16
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.162A>G
  hgvsp: ENST00000576377.1:c.162A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.722A>G
  hgvsp: ENSP00000458902.1:p.His241Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.728A>G
  hgvsp: ENSP00000395983.2:p.His243Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.629A>G
  hgvsp: ENSP00000438334.2:p.His210Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.722A>G
  hgvsp: ENSP00000343374.3:p.His241Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.371A>G
  hgvsp: ENSP00000464168.1:p.His124Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.578A>G
  hgvsp: ENSP00000461403.1:p.His193Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.2044A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.722A>G
  hgvsp: ENSP00000318557.3:p.His241Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.722A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.879A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.704A>G
  hgvsp: ENSP00000445962.2:p.His235Arg
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His243Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

16-67986289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986289
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986289
    reference: chr 16
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.155G>A
  hgvsp: ENSP00000458975.1:p.Gly52Glu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.697G>A
  hgvsp: ENSP00000445962.2:p.Gly233Ser
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.571G>A
  hgvsp: ENSP00000461403.1:p.Gly191Ser
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.622G>A
  hgvsp: ENSP00000438334.2:p.Gly208Ser
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.872G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.364G>A
  hgvsp: ENSP00000464168.1:p.Gly122Ser
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.715G>A
  hgvsp: ENSP00000318557.3:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.721G>A
  hgvsp: ENSP00000395983.2:p.Gly241Ser
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.715G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.715G>A
  hgvsp: ENSP00000343374.3:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.2037G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.715G>A
  hgvsp: ENSP00000458902.1:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly241Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-67986291-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986291
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986291
    reference: chr 16
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.695C>T
  hgvsp: ENSP00000445962.2:p.Ser232Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.362C>T
  hgvsp: ENSP00000464168.1:p.Ser121Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.713C>T
  hgvsp: ENSP00000343374.3:p.Ser238Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.713C>T
  hgvsp: ENSP00000318557.3:p.Ser238Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.713C>T
  hgvsp: ENSP00000458902.1:p.Ser238Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.569C>T
  hgvsp: ENSP00000461403.1:p.Ser190Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.870C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.620C>T
  hgvsp: ENSP00000438334.2:p.Ser207Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.2035C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.719C>T
  hgvsp: ENSP00000395983.2:p.Ser240Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.153C>T
  hgvsp: ENST00000576377.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.713C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser240Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

16-67986291-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986291
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986291
    reference: chr 16
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.719C>G
  hgvsp: ENSP00000395983.2:p.Ser240Trp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.713C>G
  hgvsp: ENSP00000318557.3:p.Ser238Trp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.870C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.713C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.713C>G
  hgvsp: ENSP00000343374.3:p.Ser238Trp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.2035C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.362C>G
  hgvsp: ENSP00000464168.1:p.Ser121Trp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.620C>G
  hgvsp: ENSP00000438334.2:p.Ser207Trp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.153C>G
  hgvsp: ENSP00000458975.1:p.Ile51Met
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.713C>G
  hgvsp: ENSP00000458902.1:p.Ser238Trp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.695C>G
  hgvsp: ENSP00000445962.2:p.Ser232Trp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.569C>G
  hgvsp: ENSP00000461403.1:p.Ser190Trp
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8565
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser240Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

16-67986305-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986305
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986305
    reference: chr 16
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.699C>G
  hgvsp: ENST00000576616.1:c.699C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.348C>G
  hgvsp: ENST00000571299.1:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.2021C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.139C>G
  hgvsp: ENSP00000458975.1:p.His47Asp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.705C>G
  hgvsp: ENST00000422611.2:c.705C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.856C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.699C>G
  hgvsp: ENST00000316341.3:c.699C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.606C>G
  hgvsp: ENST00000541864.2:c.606C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.681C>G
  hgvsp: ENST00000537830.2:c.681C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.555C>G
  hgvsp: ENST00000572037.1:c.555C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.699C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.699C>G
  hgvsp: ENST00000338335.3:c.699C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His47Asp
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

16-67986322-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986322
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986322
    reference: chr 16
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.682A>G
  hgvsp: ENSP00000343374.3:p.Ile228Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.2004A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.688A>G
  hgvsp: ENSP00000395983.2:p.Ile230Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.682A>G
  hgvsp: ENSP00000458902.1:p.Ile228Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.682A>G
  hgvsp: ENSP00000318557.3:p.Ile228Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.589A>G
  hgvsp: ENSP00000438334.2:p.Ile197Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.122A>G
  hgvsp: ENSP00000458975.1:p.His41Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.682A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.664A>G
  hgvsp: ENSP00000445962.2:p.Ile222Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.839A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.538A>G
  hgvsp: ENSP00000461403.1:p.Ile180Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.331A>G
  hgvsp: ENSP00000464168.1:p.Ile111Val
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8563
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile230Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

16-67986331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986331
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986331
    reference: chr 16
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.682-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.676-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.676-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.676-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.532-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.583-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.833-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1998-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.658-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.325-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-3C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.676-3C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.682-3C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

16-67986335-CAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986335
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986332
    reference: chr 16
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.658-10_658-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.676-10_676-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.583-10_583-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1998-10_1998-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.532-10_532-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.325-10_325-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.682-10_682-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.676-10_676-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.676-10_676-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.676-10_676-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.833-10_833-8delCTT
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-10_116-8delCTT
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.682-10_682-8delCTT
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: CAAG
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

16-67986372-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986372
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986372
    reference: chr 16
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.676-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.658-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.833-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.325-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.676-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.682-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.676-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1998-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.676-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.583-44C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.532-44C>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

16-67986376-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986376
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986376
    reference: chr 16
allele count: 2
allele frequency: 1.650900566258894e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.676-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.658-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.676-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.676-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1998-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.676-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.682-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.833-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.325-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.583-48C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.532-48C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD

16-67986377-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986377
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986377
    reference: chr 16
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.676-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.676-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.682-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.676-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.833-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.325-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1998-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.532-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.676-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.583-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-49A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.658-49A>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS

16-67986378-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67986378
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67986378
    reference: chr 16
allele count: 4
allele frequency: 3.303655494805002e-5
allele num: 121078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.676-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.532-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.676-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.833-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1998-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.325-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.682-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.583-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.658-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.676-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.676-50C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-50C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

16-67987970-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67987970
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67987970
    reference: chr 16
allele count: 1
allele frequency: 3.531073446327684e-4
allele num: 2832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.832+37C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1642C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+576C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+576C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ

16-67987988-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67987988
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67987988
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 3284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+558C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.832+19C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1660C>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3604
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

16-67987994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67987994
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67987994
    reference: chr 16
allele count: 1
allele frequency: 2.821670428893905e-4
allele num: 3544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.832+13G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1666G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+552G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+552G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

16-67988002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988002
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988002
    reference: chr 16
allele count: 0
allele frequency: 0.0e0
allele num: 3934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.832+5G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+544G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1674G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.832+5G>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD

16-67988006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988006
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988006
    reference: chr 16
allele count: 2
allele frequency: 4.967709885742673e-4
allele num: 4026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.832+1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1678G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+540G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+540G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: n.832+1G>A
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

16-67988040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988040
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988040
    reference: chr 16
allele count: 1
allele frequency: 2.029220779220779e-4
allele num: 4928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.799T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+506T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1712T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+506T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

16-67988060-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988060
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988060
    reference: chr 16
allele count: 1
allele frequency: 2.110595187842972e-4
allele num: 4738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.779T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+486T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1732T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+486T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

16-67988071-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988071
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988071
    reference: chr 16
allele count: 1
allele frequency: 2.264492753623188e-4
allele num: 4416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1743C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.768C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+475C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+475C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

16-67988078-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988078
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988078
    reference: chr 16
allele count: 21
allele frequency: 4.971590909090909e-3
allele num: 4224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.761C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1750C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+468C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+468C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

16-67988089-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988089
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988089
    reference: chr 16
allele count: 11
allele frequency: 2.882599580712788e-3
allele num: 3816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1761C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.750C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+457C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+457C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

16-67988095-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988095
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988095
    reference: chr 16
allele count: 1
allele frequency: 2.836074872376631e-4
allele num: 3526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.744G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-1767G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+451G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+451G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

16-67988495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988495
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988495
    reference: chr 16
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2167T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.716+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+51T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+51T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

16-67988499-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988499
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988499
    reference: chr 16
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.716+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2171C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+47C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+47C>G
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

16-67988505-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988505
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988505
    reference: chr 16
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.716+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2177A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+41A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+41A>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

16-67988512-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988512
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988512
    reference: chr 16
allele count: 234
allele frequency: 1.933500793231095e-3
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2184A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.716+34A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+34A>G
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7315
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20375
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
num of homozygotes: 2
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

16-67988536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988536
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988536
    reference: chr 16
allele count: 94
allele frequency: 7.752833083153258e-4
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.675+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.675+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.716+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.531+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.681+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.675+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2208G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.582+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.675+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.657+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.324+10G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1997+10G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7337
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14865
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21077
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum

16-67988558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988558
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988558
    reference: chr 16
allele count: 9
allele frequency: 7.414974953862378e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.645C>T
  hgvsp: ENST00000537830.2:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.663C>T
  hgvsp: ENST00000316341.3:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.669C>T
  hgvsp: ENST00000422611.2:c.669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.704C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.519C>T
  hgvsp: ENST00000572037.1:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.663C>T
  hgvsp: ENST00000576616.1:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1985C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.663C>T
  hgvsp: ENST00000338335.3:c.663C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2230C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.570C>T
  hgvsp: ENST00000541864.2:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.663C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.312C>T
  hgvsp: ENST00000571299.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile223Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

16-67988562-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988562
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988562
    reference: chr 16
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.700C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.659C>A
  hgvsp: ENSP00000343374.3:p.Ala220Asp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.659C>A
  hgvsp: ENSP00000318557.3:p.Ala220Asp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.665C>A
  hgvsp: ENSP00000395983.2:p.Ala222Asp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.515C>A
  hgvsp: ENSP00000461403.1:p.Ala172Asp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.659C>A
  hgvsp: ENSP00000458902.1:p.Ala220Asp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2234C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.659C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.308C>A
  hgvsp: ENSP00000464168.1:p.Ala103Asp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1981C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.641C>A
  hgvsp: ENSP00000445962.2:p.Ala214Asp
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.566C>A
  hgvsp: ENSP00000438334.2:p.Ala189Asp
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala222Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

16-67988572-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988572
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988572
    reference: chr 16
allele count: 7
allele frequency: 5.765682656826568e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.649A>G
  hgvsp: ENSP00000318557.3:p.Ile217Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2244A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.556A>G
  hgvsp: ENSP00000438334.2:p.Ile186Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.631A>G
  hgvsp: ENSP00000445962.2:p.Ile211Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.655A>G
  hgvsp: ENSP00000395983.2:p.Ile219Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.690A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.298A>G
  hgvsp: ENSP00000464168.1:p.Ile100Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.649A>G
  hgvsp: ENSP00000343374.3:p.Ile217Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.649A>G
  hgvsp: ENSP00000458902.1:p.Ile217Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.505A>G
  hgvsp: ENSP00000461403.1:p.Ile169Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.649A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1971A>G
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile219Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-67988575-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988575
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988575
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.646T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.628T>C
  hgvsp: ENSP00000445962.2:p.Tyr210His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.553T>C
  hgvsp: ENSP00000438334.2:p.Tyr185His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1968T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.295T>C
  hgvsp: ENSP00000464168.1:p.Tyr99His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.646T>C
  hgvsp: ENSP00000318557.3:p.Tyr216His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.652T>C
  hgvsp: ENSP00000395983.2:p.Tyr218His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.646T>C
  hgvsp: ENSP00000343374.3:p.Tyr216His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.687T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2247T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.502T>C
  hgvsp: ENSP00000461403.1:p.Tyr168His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.646T>C
  hgvsp: ENSP00000458902.1:p.Tyr216His
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr218His
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

16-67988576-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988576
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988576
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.552G>A
  hgvsp: ENSP00000438334.2:p.Met184Ile
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.645G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1967G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.501G>A
  hgvsp: ENSP00000461403.1:p.Met167Ile
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.651G>A
  hgvsp: ENSP00000395983.2:p.Met217Ile
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.294G>A
  hgvsp: ENSP00000464168.1:p.Met98Ile
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.686G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.645G>A
  hgvsp: ENSP00000318557.3:p.Met215Ile
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.645G>A
  hgvsp: ENSP00000343374.3:p.Met215Ile
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2248G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.645G>A
  hgvsp: ENSP00000458902.1:p.Met215Ile
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.627G>A
  hgvsp: ENSP00000445962.2:p.Met209Ile
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met217Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

16-67988577-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988577
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988577
    reference: chr 16
allele count: 12
allele frequency: 9.884027411702688e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.500T>C
  hgvsp: ENSP00000461403.1:p.Met167Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.551T>C
  hgvsp: ENSP00000438334.2:p.Met184Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.644T>C
  hgvsp: ENSP00000318557.3:p.Met215Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.644T>C
  hgvsp: ENSP00000343374.3:p.Met215Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2249T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.626T>C
  hgvsp: ENSP00000445962.2:p.Met209Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.685T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.650T>C
  hgvsp: ENSP00000395983.2:p.Met217Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.293T>C
  hgvsp: ENSP00000464168.1:p.Met98Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.644T>C
  hgvsp: ENSP00000458902.1:p.Met215Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.644T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1966T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met217Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

16-67988578-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988578
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988578
    reference: chr 16
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.643A>G
  hgvsp: ENSP00000318557.3:p.Met215Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.643A>G
  hgvsp: ENSP00000343374.3:p.Met215Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.643A>G
  hgvsp: ENSP00000458902.1:p.Met215Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.643A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.499A>G
  hgvsp: ENSP00000461403.1:p.Met167Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.649A>G
  hgvsp: ENSP00000395983.2:p.Met217Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.684A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2250A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.550A>G
  hgvsp: ENSP00000438334.2:p.Met184Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.292A>G
  hgvsp: ENSP00000464168.1:p.Met98Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.625A>G
  hgvsp: ENSP00000445962.2:p.Met209Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1965A>G
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met217Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-67988587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988587
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988587
    reference: chr 16
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.541G>A
  hgvsp: ENSP00000438334.2:p.Ala181Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.616G>A
  hgvsp: ENSP00000445962.2:p.Ala206Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.634G>A
  hgvsp: ENSP00000458902.1:p.Ala212Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1956G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2259G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.283G>A
  hgvsp: ENSP00000464168.1:p.Ala95Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.634G>A
  hgvsp: ENSP00000343374.3:p.Ala212Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.634G>A
  hgvsp: ENSP00000318557.3:p.Ala212Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.640G>A
  hgvsp: ENSP00000395983.2:p.Ala214Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.490G>A
  hgvsp: ENSP00000461403.1:p.Ala164Thr
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.675G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.634G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala214Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

16-67988588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988588
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988588
    reference: chr 16
allele count: 5
allele frequency: 4.118276912939626e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.633C>T
  hgvsp: ENST00000316341.3:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.615C>T
  hgvsp: ENST00000537830.2:c.615C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.633C>T
  hgvsp: ENST00000576616.1:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.282C>T
  hgvsp: ENST00000571299.1:c.282C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.540C>T
  hgvsp: ENST00000541864.2:c.540C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.633C>T
  hgvsp: ENST00000338335.3:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.639C>T
  hgvsp: ENST00000422611.2:c.639C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.489C>T
  hgvsp: ENST00000572037.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1955C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2260C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.674C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.633C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe213Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

16-67988602-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988602
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988602
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.619C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.268C>G
  hgvsp: ENSP00000464168.1:p.Leu90Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.619C>G
  hgvsp: ENSP00000318557.3:p.Leu207Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.526C>G
  hgvsp: ENSP00000438334.2:p.Leu176Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.475C>G
  hgvsp: ENSP00000461403.1:p.Leu159Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.619C>G
  hgvsp: ENSP00000458902.1:p.Leu207Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1941C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2274C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.619C>G
  hgvsp: ENSP00000343374.3:p.Leu207Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.625C>G
  hgvsp: ENSP00000395983.2:p.Leu209Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.601C>G
  hgvsp: ENSP00000445962.2:p.Leu201Val
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.660C>G
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu209Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

16-67988605-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988605
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988605
    reference: chr 16
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.598T>C
  hgvsp: ENSP00000445962.2:p.Tyr200His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.472T>C
  hgvsp: ENSP00000461403.1:p.Tyr158His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.616T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.523T>C
  hgvsp: ENSP00000438334.2:p.Tyr175His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.616T>C
  hgvsp: ENSP00000318557.3:p.Tyr206His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.616T>C
  hgvsp: ENSP00000343374.3:p.Tyr206His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.622T>C
  hgvsp: ENSP00000395983.2:p.Tyr208His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1938T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2277T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.616T>C
  hgvsp: ENSP00000458902.1:p.Tyr206His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.265T>C
  hgvsp: ENSP00000464168.1:p.Tyr89His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.657T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr208His
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

16-67988606-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988606
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988606
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.264C>G
  hgvsp: ENSP00000464168.1:p.Phe88Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1937C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.621C>G
  hgvsp: ENSP00000395983.2:p.Phe207Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.615C>G
  hgvsp: ENSP00000458902.1:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.522C>G
  hgvsp: ENSP00000438334.2:p.Phe174Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.597C>G
  hgvsp: ENSP00000445962.2:p.Phe199Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.471C>G
  hgvsp: ENSP00000461403.1:p.Phe157Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.615C>G
  hgvsp: ENSP00000318557.3:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.615C>G
  hgvsp: ENSP00000343374.3:p.Phe205Leu
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2278C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.656C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.615C>G
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe207Leu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-67988613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988613
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988613
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.515T>C
  hgvsp: ENSP00000438334.2:p.Leu172Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.257T>C
  hgvsp: ENSP00000464168.1:p.Leu86Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.608T>C
  hgvsp: ENSP00000318557.3:p.Leu203Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2285T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.614T>C
  hgvsp: ENSP00000395983.2:p.Leu205Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1930T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.464T>C
  hgvsp: ENSP00000461403.1:p.Leu155Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.608T>C
  hgvsp: ENSP00000343374.3:p.Leu203Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.590T>C
  hgvsp: ENSP00000445962.2:p.Leu197Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.608T>C
  hgvsp: ENSP00000458902.1:p.Leu203Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.649T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.608T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu205Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

16-67988621-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988621
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988621
    reference: chr 16
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.641T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1922T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.600T>C
  hgvsp: ENST00000316341.3:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.582T>C
  hgvsp: ENST00000537830.2:c.582T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2293T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.600T>C
  hgvsp: ENST00000576616.1:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.600T>C
  hgvsp: ENST00000338335.3:c.600T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.507T>C
  hgvsp: ENST00000541864.2:c.507T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.606T>C
  hgvsp: ENST00000422611.2:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.600T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.249T>C
  hgvsp: ENST00000571299.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.456T>C
  hgvsp: ENST00000572037.1:c.456T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala202Ala
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

16-67988636-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988636
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988636
    reference: chr 16
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.567A>C
  hgvsp: ENST00000537830.2:c.567A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.585A>C
  hgvsp: ENST00000338335.3:c.585A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.234A>C
  hgvsp: ENST00000571299.1:c.234A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.441A>C
  hgvsp: ENST00000572037.1:c.441A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.492A>C
  hgvsp: ENST00000541864.2:c.492A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2308A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.585A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.585A>C
  hgvsp: ENST00000316341.3:c.585A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.591A>C
  hgvsp: ENST00000422611.2:c.591A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1907A>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.585A>C
  hgvsp: ENST00000576616.1:c.585A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.626A>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro197Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

16-67988647-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988647
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988647
    reference: chr 16
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.580T>C
  hgvsp: ENSP00000395983.2:p.Ser194Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.223T>C
  hgvsp: ENSP00000464168.1:p.Ser75Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.574T>C
  hgvsp: ENSP00000458902.1:p.Ser192Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.430T>C
  hgvsp: ENSP00000461403.1:p.Ser144Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.556T>C
  hgvsp: ENSP00000445962.2:p.Ser186Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.481T>C
  hgvsp: ENSP00000438334.2:p.Ser161Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.615T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.574T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.574T>C
  hgvsp: ENSP00000318557.3:p.Ser192Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.574T>C
  hgvsp: ENSP00000343374.3:p.Ser192Pro
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2319T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1896T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser194Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

16-67988649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988649
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988649
    reference: chr 16
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2321G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.572G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.613G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.428G>A
  hgvsp: ENSP00000461403.1:p.Arg143His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.554G>A
  hgvsp: ENSP00000445962.2:p.Arg185His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.578G>A
  hgvsp: ENSP00000395983.2:p.Arg193His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.479G>A
  hgvsp: ENSP00000438334.2:p.Arg160His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1894G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.572G>A
  hgvsp: ENSP00000318557.3:p.Arg191His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.221G>A
  hgvsp: ENSP00000464168.1:p.Arg74His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.572G>A
  hgvsp: ENSP00000343374.3:p.Arg191His
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.572G>A
  hgvsp: ENSP00000458902.1:p.Arg191His
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg193His
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-67988654-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988654
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988654
    reference: chr 16
allele count: 5
allele frequency: 4.119566292060772e-5
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.567C>T
  hgvsp: ENST00000316341.3:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.573C>T
  hgvsp: ENST00000422611.2:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.567C>T
  hgvsp: ENST00000338335.3:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.608C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.549C>T
  hgvsp: ENST00000537830.2:c.549C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.474C>T
  hgvsp: ENST00000541864.2:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.567C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.567C>T
  hgvsp: ENST00000576616.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.423C>T
  hgvsp: ENST00000572037.1:c.423C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2326C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.216C>T
  hgvsp: ENST00000571299.1:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1889C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ile191Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

16-67988671-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988671
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988671
    reference: chr 16
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.550G>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1872G>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.591G>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.406G>C
  hgvsp: ENSP00000461403.1:p.Gly136Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.550G>C
  hgvsp: ENSP00000343374.3:p.Gly184Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.550G>C
  hgvsp: ENSP00000318557.3:p.Gly184Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.556G>C
  hgvsp: ENSP00000395983.2:p.Gly186Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.199G>C
  hgvsp: ENSP00000464168.1:p.Gly67Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.457G>C
  hgvsp: ENSP00000438334.2:p.Gly153Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2343G>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.550G>C
  hgvsp: ENSP00000458902.1:p.Gly184Arg
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.532G>C
  hgvsp: ENSP00000445962.2:p.Gly178Arg
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly186Arg
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-67988677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988677
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988677
    reference: chr 16
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-1G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2349G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4217
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14727
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.551-1G>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

16-67988680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988680
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988680
    reference: chr 16
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-4G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2352G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-4G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.551-4G>A
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

16-67988681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988681
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988681
    reference: chr 16
allele count: 8
allele frequency: 6.604365485585973e-5
allele num: 121132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2353T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-5T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-5T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14660
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.551-5T>C
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

16-67988686-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988686
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988685
    reference: chr 16
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2359delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-11delC
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-11delC
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: AG
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

16-67988692-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988692
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988692
    reference: chr 16
allele count: 11
allele frequency: 9.093614629145861e-5
allele num: 120964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2364C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-16C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-16C>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14447
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

16-67988693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988693
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988693
    reference: chr 16
allele count: 1
allele frequency: 8.266922390132602e-6
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-17T>C
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2365T>C
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

16-67988696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988696
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988696
    reference: chr 16
allele count: 4
allele frequency: 3.308738378056447e-5
allele num: 120892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-20C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2368C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-67988700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988700
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988700
    reference: chr 16
allele count: 32
allele frequency: 2.647998278801119e-4
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-24C>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2372C>T
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19900
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14133
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

16-67988705-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988705
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988705
    reference: chr 16
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2377C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-29C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-29C>G
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18370
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

16-67988716-GTTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988716
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988713
    reference: chr 16
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-43_401-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-43_545-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-43_545-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-43_527-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-43_194-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-43_1867-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-43_586-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-43_545-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-43_545-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-43_551-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-43_452-41delGAA
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2391_116-2389delGAA
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: GTTC
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

16-67988722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67988722
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67988722
    reference: chr 16
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-2394G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.452-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.545-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.545-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.527-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.586-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.551-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1867-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.194-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.545-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.545-46G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.401-46G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7341
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-67991597-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67991597
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67991597
    reference: chr 16
allele count: 1
allele frequency: 8.411843876177658e-6
allele num: 118880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.544+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.544+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.585+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.193+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.550+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000576462
  gene symbol: SLC12A4
  hgvsc: ENST00000576462.1:n.508A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-5269A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.400+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.451+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.544+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1866+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.544+48A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.526+48A>G
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

16-67991610-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67991610
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67991610
    reference: chr 16
allele count: 2
allele frequency: 1.678190239645566e-5
allele num: 119176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1866+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000576462
  gene symbol: SLC12A4
  hgvsc: ENST00000576462.1:n.495A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.544+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.193+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.451+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.544+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-5282A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.550+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.544+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.585+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.544+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.526+35A>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.400+35A>G
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
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: BaseQRankSum
site quality: ReadPosRankSum

16-67991613-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67991613
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67991613
    reference: chr 16
allele count: 7
allele frequency: 5.869922517022775e-5
allele num: 119252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000576462
  gene symbol: SLC12A4
  hgvsc: ENST00000576462.1:n.492G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.451+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.400+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.526+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.585+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1866+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-5285G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.544+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.544+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.550+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.544+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.193+32G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.544+32G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

16-67991622-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67991622
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67991622
    reference: chr 16
allele count: 1
allele frequency: 8.352265134304423e-6
allele num: 119728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.544+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000576462
  gene symbol: SLC12A4
  hgvsc: ENST00000576462.1:n.483C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.451+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.550+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.544+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.400+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.544+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-5294C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.544+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.585+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.526+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.193+23C>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1866+23C>A
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

16-67991629-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67991629
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67991629
    reference: chr 16
allele count: 1
allele frequency: 8.33152816889674e-6
allele num: 120026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.451+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1866+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.585+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.400+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000576462
  gene symbol: SLC12A4
  hgvsc: ENST00000576462.1:n.476C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.526+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.544+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.544+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.193+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.550+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-5301C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.544+16C>G
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.544+16C>G
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

16-67991631-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67991631
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67991631
    reference: chr 16
allele count: 1
allele frequency: 8.329030001166064e-6
allele num: 120062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.544+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.544+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000576462
  gene symbol: SLC12A4
  hgvsc: ENST00000576462.1:n.474A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.585+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-5303A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.550+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.544+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.544+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.451+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.193+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1866+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.526+14A>T
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.400+14A>T
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

16-67991634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 67991634
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 67991634
    reference: chr 16
allele count: 7
allele frequency: 5.827117741076185e-5
allele num: 120128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000318557
  ensembl transcript: ENST00000316341
  gene symbol: SLC12A4
  hgvsc: ENST00000316341.3:c.544+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000461403
  ensembl transcript: ENST00000572037
  gene symbol: SLC12A4
  hgvsc: ENST00000572037.1:c.400+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458975
  ensembl transcript: ENST00000576377
  gene symbol: SLC12A4
  hgvsc: ENST00000576377.1:c.116-5306G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000458902
  ensembl transcript: ENST00000576616
  gene symbol: SLC12A4
  hgvsc: ENST00000576616.1:c.544+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000438334
  ensembl transcript: ENST00000541864
  gene symbol: SLC12A4
  hgvsc: ENST00000541864.2:c.451+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000573023
  gene symbol: SLC12A4
  hgvsc: ENST00000573023.2:n.1866+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000572010
  gene symbol: SLC12A4
  hgvsc: ENST00000572010.1:n.585+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000464168
  ensembl transcript: ENST00000571299
  gene symbol: SLC12A4
  hgvsc: ENST00000571299.1:c.193+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000570802
  gene symbol: SLC12A4
  hgvsc: ENST00000570802.1:n.544+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124067
  ensembl transcript: ENST00000576462
  gene symbol: SLC12A4
  hgvsc: ENST00000576462.1:n.471G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000445962
  ensembl transcript: ENST00000537830
  gene symbol: SLC12A4
  hgvsc: ENST00000537830.2:c.526+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000395983
  ensembl transcript: ENST00000422611
  gene symbol: SLC12A4
  hgvsc: ENST00000422611.2:c.550+11G>A
  variant of: http://identifiers.org/hgnc/10913
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124067
  ensembl protein: ENSP00000343374
  ensembl transcript: ENST00000338335
  gene symbol: SLC12A4
  hgvsc: ENST00000338335.3:c.544+11G>A
  variant of: http://identifiers.org/hgnc/10913
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 1270
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 529
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5359
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3773
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14841
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18563
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2708
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6710
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.531e1

DP
type: SiteQuality
SIO_000300: 2.12218e6

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.704e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

GenotypeDepth
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 198
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 799
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3831
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18569
bin: 9.75e1
variant carriers: 14

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3772
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2707
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.249279261964251e-3
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.326e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

DP
type: SiteQuality
SIO_000300: 2.123023e6

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeDepth
all individuals: 3628
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14836
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3773
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18567
bin: 9.75e1
variant carriers: 1

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

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

South Asian
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European (Finnish)
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Latino
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Other
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East Asian
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MQ
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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MQRankSum
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FS
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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FS
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ClippingRankSum
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DP
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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DP
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MQRankSum
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FS
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

Other
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East Asian
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allele frequency: 0.0e0
allele num: 8650
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.500240038406145e-5
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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QD
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 6.002400960384154e-5
allele num: 66640
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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Other
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FS
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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East Asian
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European (Non-Finnish)
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Latino
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Other
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South Asian
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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QD
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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Other
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.6048e4

QD
type: SiteQuality
SIO_000300: 1.294e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 191
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1374
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.729475100942127e-4
allele num: 1486
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 400
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 106
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
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SIO_000300: 1.394e1

MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -5.54e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -7.2e-1

DP
type: SiteQuality
SIO_000300: 6.3219e4

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66534
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.953385e6

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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MQRankSum
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VQSLOD
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QD
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SIO_000300: 1.225e1

ReadPosRankSum
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SIO_000300: 1.43e0

BaseQRankSum
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SIO_000300: 4.46e0

ClippingRankSum
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SIO_000300: -1.564e0

MQ
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SIO_000300: 5.95e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503307276007216e-5
allele num: 66520
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 8.92e-1

MQRankSum
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SIO_000300: 8.84e-1

ClippingRankSum
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SIO_000300: 1.04e0

QD
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SIO_000300: 1.298e1

BaseQRankSum
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SIO_000300: -4.18e-1

InbreedingCoeff
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SIO_000300: 1.4e-3

VQSLOD
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SIO_000300: 1.11e-1

DP
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SIO_000300: 1.954292e6

ReadPosRankSum
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SIO_000300: -1.219e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 5.01e0

ReadPosRankSum
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SIO_000300: 1.49e0

InbreedingCoeff
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SIO_000300: 1.7e-3

ClippingRankSum
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SIO_000300: -1.632e0

QD
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SIO_000300: 1.718e1

DP
type: SiteQuality
SIO_000300: 1.957714e6

VQSLOD
type: SiteQuality
SIO_000300: -8.03e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeDepth
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variant carriers: 20

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 232

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 295
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GenotypeQuality
all individuals: 3461
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variant carriers: 0

African
type: Population
allele count: 222
allele frequency: 2.134204960584503e-2
allele num: 10402
num of homozygotes: 2

Latino
type: Population
allele count: 6
allele frequency: 5.184033177812338e-4
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.507346975570179e-5
allele num: 66558
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.224739742804654e-4
allele num: 16330
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
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SIO_000300: 2.83e0

ClippingRankSum
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SIO_000300: -8.699999999999999e-2

FS
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SIO_000300: 0.0e0

VQSLOD
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InbreedingCoeff
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SIO_000300: 9.1e-3

DP
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ReadPosRankSum
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SIO_000300: 6.52e-1

MQRankSum
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SIO_000300: 1.61e-1

QD
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SIO_000300: 1.377e1

GenotypeDepth
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variant carriers: 3

GenotypeQuality
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variant carriers: 93

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 34
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 89
allele frequency: 1.335574296947688e-3
allele num: 66638
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8650
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FS
type: SiteQuality
SIO_000300: 5.69e-1

VQSLOD
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ReadPosRankSum
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QD
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SIO_000300: 1.157e1

InbreedingCoeff
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SIO_000300: -1.0e-3

ClippingRankSum
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MQ
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DP
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SIO_000300: 1.97419e6

BaseQRankSum
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MQRankSum
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SIO_000300: 3.06e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3510
bin: 7.25e1
variant carriers: 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: 8
allele frequency: 1.199220506670664e-4
allele num: 66710
num of homozygotes: 0

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

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

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

Other
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BaseQRankSum
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SIO_000300: 1.57e0

ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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FS
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 2.4e0

QD
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SIO_000300: 1.25e1

DP
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SIO_000300: 1.971565e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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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: 904
num of homozygotes: 0

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

VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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MQ
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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SIO_000300: -1.8e-2

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

DP
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SIO_000300: 1.971634e6

MQ
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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ReadPosRankSum
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SIO_000300: 5.94e-1

BaseQRankSum
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SIO_000300: -5.07e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 66738
num of homozygotes: 0

South Asian
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Other
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MQRankSum
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.919e1

BaseQRankSum
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SIO_000300: 7.07e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 1.971214e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
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FS
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SIO_000300: 2.061e0

BaseQRankSum
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SIO_000300: -2.677e0

ReadPosRankSum
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SIO_000300: 1.08e0

InbreedingCoeff
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MQ
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SIO_000300: 5.981e1

ClippingRankSum
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MQRankSum
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VQSLOD
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DP
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SIO_000300: 1.971194e6

QD
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SIO_000300: 1.526e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.79807605861728e-4
allele num: 66738
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

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

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

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

South Asian
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East Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.996793431028799e-5
allele num: 66738
num of homozygotes: 0

Other
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allele num: 906
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European (Finnish)
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allele frequency: 0.0e0
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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

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

Other
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allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

African
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South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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QD
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SIO_000300: 1.121e1

VQSLOD
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.971112e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

South Asian
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allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

DP
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

FS
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ClippingRankSum
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SIO_000300: -8.6e-1

BaseQRankSum
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SIO_000300: -8.19e-1

VQSLOD
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SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.212e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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SIO_000300: 1.970757e6

MQRankSum
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SIO_000300: -3.83e-1

BaseQRankSum
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SIO_000300: -4.194e0

ReadPosRankSum
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SIO_000300: 1.68e0

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.66e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8717
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

ReadPosRankSum
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SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.106e0

ClippingRankSum
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SIO_000300: 2.95e-1

BaseQRankSum
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SIO_000300: 5.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.970724e6

GenotypeDepth
all individuals: 1342
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.403e0

BaseQRankSum
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SIO_000300: 8.64e-1

VQSLOD
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MQRankSum
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SIO_000300: -1.36e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 1.193e1

ReadPosRankSum
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SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 1.970689e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

VQSLOD
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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SIO_000300: 1.328e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

Other
type: Population
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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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
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

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

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

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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FS
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SIO_000300: 2.881e0

DP
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MQ
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MQRankSum
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QD
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SIO_000300: 1.076e1

InbreedingCoeff
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SIO_000300: 1.7e-3

ClippingRankSum
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SIO_000300: 4.62e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
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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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

ClippingRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.0e-3

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

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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

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

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

South Asian
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allele frequency: 6.056935190793458e-5
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VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
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MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.969309e6

FS
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SIO_000300: 0.0e0

BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -1.53e-1

InbreedingCoeff
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SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele count: 5
allele frequency: 3.028467595396729e-4
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.193e0

MQ
type: SiteQuality
SIO_000300: 5.921e1

VQSLOD
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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SIO_000300: 1.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
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SIO_000300: 1.96867e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

Latino
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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: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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MQ
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QD
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FS
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

Latino
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allele num: 11538
num of homozygotes: 0

African
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South Asian
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num of homozygotes: 0

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

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

East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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allele num: 66608
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South Asian
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 9.282896263634254e-4
allele num: 8618
num of homozygotes: 0

Other
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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African
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South Asian
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DP
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SIO_000300: 1.957253e6

MQRankSum
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SIO_000300: 1.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

FS
type: SiteQuality
SIO_000300: 1.964e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 4947
bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

ReadPosRankSum
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SIO_000300: -2.21e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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MQ
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DP
type: SiteQuality
SIO_000300: 1.951134e6

BaseQRankSum
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SIO_000300: -2.425e0

QD
type: SiteQuality
SIO_000300: 6.13e0

FS
type: SiteQuality
SIO_000300: 2.021e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 11

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4898
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.653737446629382e-4
allele num: 66516
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.879e0

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-2

DP
type: SiteQuality
SIO_000300: 1.944702e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

QD
type: SiteQuality
SIO_000300: 1.327e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.312e0

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 112
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GenotypeQuality
all individuals: 79
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

VQSLOD
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SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 9.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

DP
type: SiteQuality
SIO_000300: 1.942646e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.512771142332802e-5
allele num: 66478
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.284e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.686e0

DP
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SIO_000300: 1.9324e6

VQSLOD
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SIO_000300: 1.49e0

ClippingRankSum
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SIO_000300: -5.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

GenotypeDepth
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variant carriers: 6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 31

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3834
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

South Asian
type: Population
allele count: 32
allele frequency: 1.946708845358316e-3
allele num: 16438
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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: 6604
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.19e0

MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 1.87e-2

ReadPosRankSum
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DP
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SIO_000300: 1.925089e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505706628120577e-5
allele num: 66414
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16424
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.189e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2581
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GenotypeQuality
all individuals: 381
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

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

Other
type: Population
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South Asian
type: Population
allele count: 1
allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

FS
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.58e1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.557632398753894e-4
allele num: 6420
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African
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South Asian
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 9.15024705667053e-5
allele num: 65572
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VQSLOD
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DP
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ClippingRankSum
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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European (Non-Finnish)
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African
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Latino
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East Asian
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16270
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East Asian
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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QD
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MQ
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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Other
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ClippingRankSum
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FS
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

GenotypeDepth
all individuals: 3554
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 172
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 231
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3298
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2974
bin: 7.25e1
variant carriers: 0