19-54942465-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942465
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942465
    reference: chr 19
allele count: 1
allele frequency: 2.738975623116954e-5
allele num: 36510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+96C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+96C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1139C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+96C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+96C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+96C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+96C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-162G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+96C>G
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14837
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum

19-54942468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942468
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942468
    reference: chr 19
allele count: 1
allele frequency: 3.126172314617982e-5
allele num: 31988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+99C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+99C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+99C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-165G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+99C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+99C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+99C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+99C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1142C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-54942474-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942474
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 25582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1148A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+105A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+105A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+105A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+105A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+105A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+105A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-171T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+105A>C
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19280
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26687
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

19-54942478-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942478
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942478
    reference: chr 19
allele count: 4
allele frequency: 2.217049107637734e-4
allele num: 18042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1152C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+109C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+109C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+109C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+109C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+109C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+109C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+109C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-175G>A
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29981
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-54942484-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942484
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942484
    reference: chr 19
allele count: 1
allele frequency: 5.797101449275362e-5
allele num: 17250
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+115A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1158A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+115A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-181T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+115A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+115A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+115A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+115A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+115A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16991
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6931
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30587
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31244
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
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: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

19-54942487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942487
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942487
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+118C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+118C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+118C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1161C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+118C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+118C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+118C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-184G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+118C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32139
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
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: 8.25e1
  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 quality: GenotypeQuality
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-54942488-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942488
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942488
    reference: chr 19
allele count: 1
allele frequency: 7.167431192660551e-5
allele num: 13952
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-185A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+119T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+119T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1162T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+119T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+119T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+119T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+119T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+119T>G
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-54942489-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942489
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942489
    reference: chr 19
allele count: 27
allele frequency: 1.944124423963134e-3
allele num: 13888
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-186G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+120C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+120C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1163C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+120C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+120C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+120C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+120C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+120C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33047
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13612
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

19-54942490-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942490
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942490
    reference: chr 19
allele count: 6
allele frequency: 4.483634733223733e-4
allele num: 13382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+121T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+121T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-187A>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1164T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+121T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+121T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+121T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+121T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+121T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33511
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14670
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-54942502-TTATCTGTCCTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942502
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942491
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 8390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: TTATCTGTCCTA
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-54942514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942514
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942514
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 6372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+145T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+145T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+145T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+145T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+145T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+145T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+145T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1188T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-211A>G
canonical: false
consequence: 3' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 11985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7758
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-54942516-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942516
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942516
    reference: chr 19
allele count: 1
allele frequency: 1.652346331791143e-4
allele num: 6052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+147T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+147T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+147T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+147T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1190T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-213A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+147T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+147T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+147T>A
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/19-54942517-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54942517
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54942517
    reference: chr 19
allele count: 2
allele frequency: 3.38409475465313e-4
allele num: 5910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1216+148C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*1191C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2035+148C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1125+148C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1125+148C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1125+148C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.580+148C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000227407
  ensembl transcript: ENST00000457113
  gene symbol: AC008746.3
  hgvsc: ENST00000457113.1:n.58-214G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.186+148C>A
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34871
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26887
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-54946672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946672
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946672
    reference: chr 19
allele count: 11
allele frequency: 1.027461236689707e-4
allele num: 107060
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-50C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-50C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-50C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-50C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-50C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-50C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-50C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-50C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23657
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2077
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-54946673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946673
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946673
    reference: chr 19
allele count: 1
allele frequency: 9.335324869305452e-6
allele num: 107120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-49G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-49G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-49G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-49G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-49G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-49G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-49G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-49G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8727
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23650
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-54946673-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946673
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946673
    reference: chr 19
allele count: 1
allele frequency: 9.335324869305452e-6
allele num: 107120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-49G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-49G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-49G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-49G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-49G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-49G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-49G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-49G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS

19-54946677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946677
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946677
    reference: chr 19
allele count: 1
allele frequency: 9.334627735045926e-6
allele num: 107128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-45G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-45G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-45G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-45G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-45G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-45G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-45G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-45G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23641
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-54946679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946679
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946679
    reference: chr 19
allele count: 1
allele frequency: 9.332014408630247e-6
allele num: 107158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-43G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-43G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-43G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-43G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-43G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-43G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-43G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-43G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

19-54946686-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946686
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946686
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 107288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-36G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-36G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-36G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-36G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-36G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-36G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-36G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-36G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4782
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-54946688-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946688
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946688
    reference: chr 19
allele count: 6
allele frequency: 5.585864040069265e-5
allele num: 107414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-34G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-34G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-34G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-34G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-34G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-34G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-34G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-34G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

19-54946693-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946693
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946693
    reference: chr 19
allele count: 1
allele frequency: 9.292816652727442e-6
allele num: 107610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-29C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-29C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-29C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-29C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-29C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-29C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-29C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-29C>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

19-54946694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946694
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946694
    reference: chr 19
allele count: 1
allele frequency: 9.284361421621421e-6
allele num: 107708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-28G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-28G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-28G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-28G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-28G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-28G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-28G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-28G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-54946695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946695
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946695
    reference: chr 19
allele count: 13
allele frequency: 1.205400192864031e-4
allele num: 107848
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-27C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-27C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-27C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-27C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-27C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-27C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-27C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-27C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4490
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

19-54946696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946696
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946696
    reference: chr 19
allele count: 1
allele frequency: 9.263547938860584e-6
allele num: 107950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-26A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-26A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-26A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-26A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-26A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-26A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-26A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-26A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-54946708-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946708
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946708
    reference: chr 19
allele count: 2
allele frequency: 1.843012219171013e-5
allele num: 108518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-14C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8497
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4886
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4806
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

19-54946711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946711
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946711
    reference: chr 19
allele count: 1
allele frequency: 9.172628875435699e-6
allele num: 109020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-11C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-11C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-11C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-11C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-11C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-11C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-11C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-11C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

19-54946714-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946714
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946714
    reference: chr 19
allele count: 190
allele frequency: 1.737254041401507e-3
allele num: 109368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2036-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1126-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.155-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.187-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1217-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1126-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.581-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1126-8C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1126-8C>T
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-54946735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946735
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946735
    reference: chr 19
allele count: 31
allele frequency: 2.773900282758868e-4
allele num: 111756
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1139C>T
  hgvsp: ENSP00000365714.3:p.Ala380Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1139C>T
  hgvsp: ENSP00000365713.3:p.Ala380Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.594C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1230C>T
  hgvsp: ENST00000391739.3:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.200C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1139C>T
  hgvsp: ENSP00000301194.4:p.Ala380Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2049C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.168C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala380Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

19-54946740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946740
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946740
    reference: chr 19
allele count: 2
allele frequency: 1.777398599409904e-5
allele num: 112524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1144C>T
  hgvsp: ENSP00000301194.4:p.Arg382Trp
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1144C>T
  hgvsp: ENSP00000365714.3:p.Arg382Trp
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2054C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1235C>T
  hgvsp: ENSP00000375619.3:p.Ala412Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.599C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.173C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.205C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1144C>T
  hgvsp: ENSP00000365713.3:p.Arg382Trp
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4926
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg382Trp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-54946741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946741
    reference: chr 19
allele count: 138
allele frequency: 1.221498371335505e-3
allele num: 112976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1145G>A
  hgvsp: ENSP00000365714.3:p.Arg382Gln
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.174G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1145G>A
  hgvsp: ENSP00000365713.3:p.Arg382Gln
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1145G>A
  hgvsp: ENSP00000301194.4:p.Arg382Gln
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1236G>A
  hgvsp: ENST00000391739.3:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2055G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.600G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.206G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11270
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3568
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Arg382Gln
num of homozygotes: 1
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-54946741-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946741
    reference: chr 19
allele count: 1
allele frequency: 8.851437473445687e-6
allele num: 112976
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1145G>T
  hgvsp: ENSP00000365714.3:p.Arg382Leu
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1145G>T
  hgvsp: ENSP00000301194.4:p.Arg382Leu
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1236G>T
  hgvsp: ENST00000391739.3:c.1236G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1145G>T
  hgvsp: ENSP00000365713.3:p.Arg382Leu
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2055G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.600G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.174G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.206G>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg382Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-54946745-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946745
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946745
    reference: chr 19
allele count: 1
allele frequency: 8.809020436927414e-6
allele num: 113520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1149C>A
  hgvsp: ENST00000376530.3:c.1149C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.210C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.604C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2059C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.178C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1240C>A
  hgvsp: ENSP00000375619.3:p.Pro414Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1149C>A
  hgvsp: ENST00000301194.4:c.1149C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1149C>A
  hgvsp: ENST00000376531.3:c.1149C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro414Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

19-54946748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946748
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946748
    reference: chr 19
allele count: 355
allele frequency: 3.114035087719298e-3
allele num: 114000
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1152G>A
  hgvsp: ENST00000376531.3:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1152G>A
  hgvsp: ENST00000301194.4:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1243G>A
  hgvsp: ENSP00000375619.3:p.Val415Met
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1152G>A
  hgvsp: ENST00000376530.3:c.1152G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2062G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.213G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.607G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.181G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8949
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5057
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 6.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 3.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 3019
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 11657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Val415Met
num of homozygotes: 4
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-54946751-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946751
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946751
    reference: chr 19
allele count: 1
allele frequency: 8.74691671185907e-6
allele num: 114326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.216C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1155C>T
  hgvsp: ENST00000376530.3:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.184C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1155C>T
  hgvsp: ENST00000301194.4:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1155C>T
  hgvsp: ENST00000376531.3:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1246C>T
  hgvsp: ENSP00000375619.3:p.Arg416Ter
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2065C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.610C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg416Ter
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-54946757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946757
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946757
    reference: chr 19
allele count: 1
allele frequency: 8.665210911233579e-6
allele num: 115404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1161C>T
  hgvsp: ENST00000376530.3:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.222C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1161C>T
  hgvsp: ENST00000376531.3:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1252C>T
  hgvsp: ENSP00000375619.3:p.Arg418Cys
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2071C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1161C>T
  hgvsp: ENST00000301194.4:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.616C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.190C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2871
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg418Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-54946758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946758
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946758
    reference: chr 19
allele count: 8
allele frequency: 6.925807289412172e-5
allele num: 115510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.191G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1162G>A
  hgvsp: ENSP00000365713.3:p.Ala388Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.223G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1162G>A
  hgvsp: ENSP00000301194.4:p.Ala388Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1253G>A
  hgvsp: ENSP00000375619.3:p.Arg418His
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.617G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2072G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1162G>A
  hgvsp: ENSP00000365714.3:p.Ala388Thr
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala388Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-54946760-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946760
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946760
    reference: chr 19
allele count: 1
allele frequency: 8.636175210722675e-6
allele num: 115792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.225C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1164C>G
  hgvsp: ENST00000376531.3:c.1164C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.619C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1164C>G
  hgvsp: ENST00000376530.3:c.1164C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1255C>G
  hgvsp: ENSP00000375619.3:p.Pro419Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1164C>G
  hgvsp: ENST00000301194.4:c.1164C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2074C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.193C>G
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro419Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

19-54946770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946770
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946770
    reference: chr 19
allele count: 1
allele frequency: 8.579714123925391e-6
allele num: 116554
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.629C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1265C>T
  hgvsp: ENSP00000375619.3:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1174C>T
  hgvsp: ENST00000376531.3:c.1174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.235C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2084C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.203C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1174C>T
  hgvsp: ENST00000301194.4:c.1174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1174C>T
  hgvsp: ENST00000376530.3:c.1174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6796
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro422Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

19-54946775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946775
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946775
    reference: chr 19
allele count: 5
allele frequency: 4.281995067141682e-5
allele num: 116768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.208C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2089C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1179C>T
  hgvsp: ENST00000301194.4:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1270C>T
  hgvsp: ENSP00000375619.3:p.Leu424Phe
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1179C>T
  hgvsp: ENST00000376530.3:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1179C>T
  hgvsp: ENST00000376531.3:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.240C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.634C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6783
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu424Phe
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/19-54946784-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946784
    reference: chr 19
allele count: 1
allele frequency: 8.434832484226864e-6
allele num: 118556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.249A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1188A>C
  hgvsp: ENST00000376531.3:c.1188A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1188A>C
  hgvsp: ENST00000301194.4:c.1188A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1188A>C
  hgvsp: ENST00000376530.3:c.1188A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.643A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1279A>C
  hgvsp: ENSP00000375619.3:p.Thr427Pro
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2098A>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.217A>C
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr427Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-54946784-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946784
    reference: chr 19
allele count: 39810
allele frequency: 3.357906811970715e-1
allele num: 118556
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1188A>G
  hgvsp: ENST00000376531.3:c.1188A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.217A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1279A>G
  hgvsp: ENSP00000375619.3:p.Thr427Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.249A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.643A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1188A>G
  hgvsp: ENST00000376530.3:c.1188A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1188A>G
  hgvsp: ENST00000301194.4:c.1188A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2098A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 2.25e1
  variant carriers: 1756
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.75e1
  variant carriers: 1176
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 5.25e1
  variant carriers: 3259
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 4.75e1
  variant carriers: 3723
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 608
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.5e0
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.25e1
  variant carriers: 2999
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 3.75e1
  variant carriers: 3577
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 1920
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 1.25e1
  variant carriers: 741
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 6.75e1
  variant carriers: 1365
genotype depth: GenotypeDepth
  all individuals: 9074
  bin: 2.75e1
  variant carriers: 2264
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 4.25e1
  variant carriers: 3934
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 5.75e1
  variant carriers: 2563
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 9.75e1
  variant carriers: 770
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 8.25e1
  variant carriers: 401
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.25e1
  variant carriers: 916
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.25e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 7.75e1
  variant carriers: 265
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 3.25e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.75e1
  variant carriers: 142
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 9132
  bin: 6.25e1
  variant carriers: 246
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 41
hgvs: p.Thr427Ala
num of homozygotes: 7492
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-54946791-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946791
    reference: chr 19
allele count: 1
allele frequency: 8.473427331887202e-6
allele num: 118016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1195T>G
  hgvsp: ENSP00000301194.4:p.Ser399Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1195T>G
  hgvsp: ENSP00000365714.3:p.Ser399Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.650T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1195T>G
  hgvsp: ENSP00000365713.3:p.Ser399Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.224T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1286T>G
  hgvsp: ENSP00000375619.3:p.Leu429Arg
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2105T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.256T>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19450
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser399Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

19-54946793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946793
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946793
    reference: chr 19
allele count: 1
allele frequency: 8.475869200386499e-6
allele num: 117982
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2107C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.652C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1197C>T
  hgvsp: ENST00000301194.4:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.258C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1288C>T
  hgvsp: ENSP00000375619.3:p.Pro430Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1197C>T
  hgvsp: ENST00000376531.3:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1197C>T
  hgvsp: ENST00000376530.3:c.1197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.226C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro430Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-54946797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946797
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946797
    reference: chr 19
allele count: 2
allele frequency: 1.697130152911427e-5
allele num: 117846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1201C>T
  hgvsp: ENST00000301194.4:c.1201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1292C>T
  hgvsp: ENSP00000375619.3:p.Ala431Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.230C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2111C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1201C>T
  hgvsp: ENST00000376530.3:c.1201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1201C>T
  hgvsp: ENST00000376531.3:c.1201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.262C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.656C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7610
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16278
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7994
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala431Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

19-54946803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946803
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946803
    reference: chr 19
allele count: 2
allele frequency: 1.699524133242692e-5
allele num: 117680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.236G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1207G>A
  hgvsp: ENSP00000365713.3:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1207G>A
  hgvsp: ENSP00000365714.3:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.268G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.662G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2117G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1298G>A
  hgvsp: ENSP00000375619.3:p.Cys433Tyr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1207G>A
  hgvsp: ENSP00000301194.4:p.Ala403Thr
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala403Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

19-54946806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946806
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946806
    reference: chr 19
allele count: 1
allele frequency: 8.501666326600013e-6
allele num: 117624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.665G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1301G>A
  hgvsp: ENSP00000375619.3:p.Arg434Lys
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2120G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.271G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1210G>A
  hgvsp: ENSP00000301194.4:p.Gly404Arg
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1210G>A
  hgvsp: ENSP00000365714.3:p.Gly404Arg
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.239G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1210G>A
  hgvsp: ENSP00000365713.3:p.Gly404Arg
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9519
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly404Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-54946809-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946809
    reference: chr 19
allele count: 1
allele frequency: 8.511072905850511e-6
allele num: 117494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.668G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1213G>C
  hgvsp: ENSP00000365714.3:p.Ala405Pro
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1213G>C
  hgvsp: ENSP00000365713.3:p.Ala405Pro
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1213G>C
  hgvsp: ENSP00000301194.4:p.Ala405Pro
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1304G>C
  hgvsp: ENSP00000375619.3:p.Ser435Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.274G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2123G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.242G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala405Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

19-54946810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946810
    reference: chr 19
allele count: 1
allele frequency: 8.515421428206482e-6
allele num: 117434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1214C>T
  hgvsp: ENSP00000365713.3:p.Ala405Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.243C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.275C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2124C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1305C>T
  hgvsp: ENST00000391739.3:c.1305C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1214C>T
  hgvsp: ENSP00000301194.4:p.Ala405Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1214C>T
  hgvsp: ENSP00000365714.3:p.Ala405Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.669C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15612
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala405Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

19-54946811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946811
    reference: chr 19
allele count: 33
allele frequency: 2.814642966804271e-4
allele num: 117244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1306G>A
  hgvsp: ENSP00000375619.3:p.Ala436Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.670G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.276G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1215G>A
  hgvsp: ENST00000376531.3:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2125G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.244G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1215G>A
  hgvsp: ENST00000376530.3:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1215G>A
  hgvsp: ENST00000301194.4:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala436Thr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-54946811-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946811
    reference: chr 19
allele count: 1
allele frequency: 8.529221111528095e-6
allele num: 117244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1215G>T
  hgvsp: ENST00000376530.3:c.1215G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1215G>T
  hgvsp: ENST00000301194.4:c.1215G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2125G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.670G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1215G>T
  hgvsp: ENST00000376531.3:c.1215G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.244G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1306G>T
  hgvsp: ENSP00000375619.3:p.Ala436Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.276G>T
  variant of: http://identifiers.org/hgnc/13476
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7683
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala436Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

19-54946830-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946830
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946830
    reference: chr 19
allele count: 1
allele frequency: 8.559738414394057e-6
allele num: 116826
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1234A>G
  hgvsp: ENSP00000301194.4:p.Ser412Gly
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.689A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1234A>G
  hgvsp: ENSP00000365713.3:p.Ser412Gly
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1325A>G
  hgvsp: ENSP00000375619.3:p.Gln442Arg
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.295A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1234A>G
  hgvsp: ENSP00000365714.3:p.Ser412Gly
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2144A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.263A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser412Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-54946840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946840
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946840
    reference: chr 19
allele count: 8
allele frequency: 6.868249798245163e-5
allele num: 116478
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1244G>A
  hgvsp: ENSP00000365714.3:p.Arg415Gln
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1244G>A
  hgvsp: ENSP00000365713.3:p.Arg415Gln
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2154G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.699G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1335G>A
  hgvsp: ENST00000391739.3:c.1335G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.273G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1244G>A
  hgvsp: ENSP00000301194.4:p.Arg415Gln
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.305G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13740
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4386
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg415Gln
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-54946842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946842
    reference: chr 19
allele count: 1
allele frequency: 8.582217645039478e-6
allele num: 116520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.701G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1246G>A
  hgvsp: ENSP00000365713.3:p.Ala416Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1246G>A
  hgvsp: ENSP00000365714.3:p.Ala416Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1337G>A
  hgvsp: ENSP00000375619.3:p.Ser446Asn
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2156G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.275G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1246G>A
  hgvsp: ENSP00000301194.4:p.Ala416Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.307G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13633
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala416Thr
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: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

19-54946846-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946846
    reference: chr 19
allele count: 4
allele frequency: 3.436898542755018e-5
allele num: 116384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.279G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2160G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1341G>C
  hgvsp: ENST00000391739.3:c.1341G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.705G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1250G>C
  hgvsp: ENSP00000301194.4:p.Trp417Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1250G>C
  hgvsp: ENSP00000365713.3:p.Trp417Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1250G>C
  hgvsp: ENSP00000365714.3:p.Trp417Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.311G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10989
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4820
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp417Ser
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-54946851-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946851
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946851
    reference: chr 19
allele count: 1
allele frequency: 8.60037497634897e-6
allele num: 116274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1255C>G
  hgvsp: ENSP00000301194.4:p.Leu419Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.710C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1255C>G
  hgvsp: ENSP00000365713.3:p.Leu419Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1346C>G
  hgvsp: ENSP00000375619.3:p.Pro449Arg
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.316C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1255C>G
  hgvsp: ENSP00000365714.3:p.Leu419Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.284C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2165C>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu419Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum

19-54946873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946873
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946873
    reference: chr 19
allele count: 28
allele frequency: 2.428868841082582e-4
allele num: 115280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+9C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+9C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+9C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+9C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+9C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+9C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+9C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+9C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

19-54946873-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946873
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946872
    reference: chr 19
allele count: 2
allele frequency: 1.734906315058987e-5
allele num: 115280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+14delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+14delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+14delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+14delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+14delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+14delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+14delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+14delG
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: CG
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-54946873-CGGGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946873
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946869
    reference: chr 19
allele count: 2
allele frequency: 1.734906315058987e-5
allele num: 115280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+11_723+14delGGGG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+11_329+14delGGGG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+11_1268+14delGGGG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+11_1268+14delGGGG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+11_2178+14delGGGG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+11_297+14delGGGG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+11_1268+14delGGGG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+11_1359+14delGGGG
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7198
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9468
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13517
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: CGGGG
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

19-54946874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946874
    reference: chr 19
allele count: 1
allele frequency: 8.645881966419394e-6
allele num: 115662
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+10G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+10G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+10G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+10G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+10G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+10G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+10G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+10G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-54946874-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946874
    reference: chr 19
allele count: 2
allele frequency: 1.729176393283879e-5
allele num: 115662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+10G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+10G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+10G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+10G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+10G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+10G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+10G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+10G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

19-54946875-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946875
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946875
    reference: chr 19
allele count: 2
allele frequency: 1.72827984307219e-5
allele num: 115722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+11G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+11G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+11G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+11G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+11G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+11G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+11G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+11G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12023
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4054
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2081
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-54946876-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946876
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946876
    reference: chr 19
allele count: 1
allele frequency: 8.630808534143478e-6
allele num: 115864
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+12G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+12G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+12G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+12G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+12G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+12G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+12G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+12G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

19-54946878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946878
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946878
    reference: chr 19
allele count: 10
allele frequency: 8.621730208818306e-5
allele num: 115986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+14G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9095
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12125
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9478
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-54946883-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946883
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946883
    reference: chr 19
allele count: 15
allele frequency: 1.292702264814368e-4
allele num: 116036
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+19T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+19T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+19T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+19T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+19T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+19T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+19T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+19T>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12158
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10404
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1755
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

19-54946885-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946885
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946885
    reference: chr 19
allele count: 1
allele frequency: 8.604371020478403e-6
allele num: 116220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+21G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+21G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+21G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+21G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+21G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+21G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+21G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+21G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4459
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-54946888-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946888
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946888
    reference: chr 19
allele count: 1
allele frequency: 8.593427746459508e-6
allele num: 116368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+24T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+24T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+24T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+24T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+24T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+24T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+24T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+24T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4525
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9505
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2095
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3698
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

19-54946899-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946899
    reference: chr 19
allele count: 1
allele frequency: 8.544525522497736e-6
allele num: 117034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+35G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+35G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+35G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+35G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+35G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+35G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+35G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+35G>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17254
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-54946905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946905
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946905
    reference: chr 19
allele count: 1
allele frequency: 8.513536523071684e-6
allele num: 117460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+41G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+41G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+41G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+41G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+41G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+41G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+41G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+41G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7574
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

19-54946909-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946909
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946909
    reference: chr 19
allele count: 1
allele frequency: 8.497620666213461e-6
allele num: 117680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+45G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+45G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+45G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+45G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+45G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+45G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+45G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+45G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7463
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5084
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/19-54946916-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946916
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946916
    reference: chr 19
allele count: 297
allele frequency: 2.511670387659834e-3
allele num: 118248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2178+52C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1268+52C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.297+52C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+52C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.723+52C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.329+52C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1268+52C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1359+52C>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11790
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11688
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13805
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 4.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 3
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-54946959-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54946959
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54946959
    reference: chr 19
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.1360-49T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.2179-49T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.1269-49T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.1269-49T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476863
  gene symbol: TTYH1
  hgvsc: ENST00000476863.1:n.298-49T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.1268+95T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000492920
  gene symbol: TTYH1
  hgvsc: ENST00000492920.1:n.330-49T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.724-49T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 4.25e1
  variant carriers: 1
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 328
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18617
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1845
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30355
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21376
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 4.96031746031746e-4
allele num: 2016
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.523e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.92736e5

VQSLOD
type: SiteQuality
SIO_000300: -1.17e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.084e1

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1854
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

South Asian
type: Population
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
allele num: 1642
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1648
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.314625850340136e-5
allele num: 18816
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.628e0

ReadPosRankSum
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1228
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1160
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 15202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 4.00545e5

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.04e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.628e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.654e1

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 1.743679163034002e-3
allele num: 2294
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10744
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

DP
type: SiteQuality
SIO_000300: 3.50825e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.426e0

VQSLOD
type: SiteQuality
SIO_000300: -1.857e0

QD
type: SiteQuality
SIO_000300: 9.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.97e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.393e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.354e1

DP
type: SiteQuality
SIO_000300: 3.37239e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1840
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.39e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.201056930098487e-4
allele num: 8326
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2026
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.673999999999999e-1

BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 1.75e1
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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bin: 8.25e1
variant carriers: 0

European (Non-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 frequency: 0.0e0
allele num: 1660
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 frequency: 0.0e0
allele num: 676
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 1.337958374628345e-2
allele num: 2018
num of homozygotes: 0

Other
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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FS
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.717472118959108e-3
allele num: 538
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European (Non-Finnish)
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allele count: 4
allele frequency: 5.031446540880503e-4
allele num: 7950
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7202
bin: 2.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.47e-2

MQ
type: SiteQuality
SIO_000300: 5.58e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

DP
type: SiteQuality
SIO_000300: 2.45827e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 4.8e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3730
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.110000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.619e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.361e1

FS
type: SiteQuality
SIO_000300: 3.68e0

DP
type: SiteQuality
SIO_000300: 2.21188e5

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 31
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1114
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.824858757062147e-4
allele num: 3540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.799e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.132e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.524e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.37e-2

MQ
type: SiteQuality
SIO_000300: 5.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 2.19496e5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 2

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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variant carriers: 0

GenotypeQuality
all individuals: 4751
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.831501831501832e-3
allele num: 1092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3438
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.635e0

QD
type: SiteQuality
SIO_000300: 1.301e1

DP
type: SiteQuality
SIO_000300: 2.19159e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.217e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.459999999999999e-2

GenotypeQuality
all individuals: 2358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2858
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variant carriers: 0

GenotypeQuality
all individuals: 8649
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 6
allele frequency: 5.265005265005265e-4
allele num: 11396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.276217934016971e-5
allele num: 61046
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.18427285646613e-4
allele num: 8444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.125398512221041e-4
allele num: 9410
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.198e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

FS
type: SiteQuality
SIO_000300: 1.127e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.264259e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

GenotypeQuality
all individuals: 2715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3113
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GenotypeQuality
all individuals: 4763
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61060
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.096e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.264258e6

QD
type: SiteQuality
SIO_000300: 1.265e1

FS
type: SiteQuality
SIO_000300: 2.497e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
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bin: 7.75e1
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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bin: 6.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61060
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 2.264258e6

MQRankSum
type: SiteQuality
SIO_000300: -1.096e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.265e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 2.497e0

GenotypeQuality
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bin: 6.75e1
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
all individuals: 25
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GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637733377006223e-5
allele num: 61060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.962e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 9.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

DP
type: SiteQuality
SIO_000300: 2.265383e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 47
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637465203864418e-5
allele num: 61070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 9.59e0

VQSLOD
type: SiteQuality
SIO_000300: -1.258e0

FS
type: SiteQuality
SIO_000300: 4.531e0

DP
type: SiteQuality
SIO_000300: 2.265673e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
all individuals: 9050
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 65
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2128
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GenotypeQuality
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GenotypeQuality
all individuals: 3560
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GenotypeQuality
all individuals: 23639
bin: 9.75e1
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GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61112
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.35e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: -1.359e0

DP
type: SiteQuality
SIO_000300: 2.268465e6

VQSLOD
type: SiteQuality
SIO_000300: -8.33e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeQuality
all individuals: 3758
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.100591715976331e-4
allele num: 8450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61160
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.463e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

QD
type: SiteQuality
SIO_000300: 6.55e0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 3.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.269939e6

GenotypeQuality
all individuals: 2856
bin: 9.25e1
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: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.05797714769361e-4
allele num: 9452
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

QD
type: SiteQuality
SIO_000300: 1.179e1

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.5e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

FS
type: SiteQuality
SIO_000300: 2.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

DP
type: SiteQuality
SIO_000300: 2.273232e6

GenotypeQuality
all individuals: 551
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23630
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.056635672020287e-4
allele num: 9464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

DP
type: SiteQuality
SIO_000300: 2.274673e6

VQSLOD
type: SiteQuality
SIO_000300: -7.742e-1

FS
type: SiteQuality
SIO_000300: 1.869e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.593e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.557e0

QD
type: SiteQuality
SIO_000300: 8.15e0

GenotypeQuality
all individuals: 1748
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
all individuals: 1863
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variant carriers: 0

GenotypeQuality
all individuals: 76
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
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variant carriers: 0

GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
all individuals: 246
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variant carriers: 0

GenotypeQuality
all individuals: 23637
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 9334
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variant carriers: 0

GenotypeQuality
all individuals: 3551
bin: 7.75e1
variant carriers: 1

South Asian
type: Population
allele count: 13
allele frequency: 1.304696908871939e-3
allele num: 9964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.275795e6

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-1

QD
type: SiteQuality
SIO_000300: 1.007e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

FS
type: SiteQuality
SIO_000300: 4.157e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.83e-1

GenotypeQuality
all individuals: 558
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1668
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23627
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9357
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.630417060684123e-5
allele num: 61334
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.46e-1

FS
type: SiteQuality
SIO_000300: 4.248e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.32e-1

DP
type: SiteQuality
SIO_000300: 2.27655e6

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 538
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variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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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
all individuals: 3550
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 239
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variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.250763929523438e-5
allele num: 61524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.903e0

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.32e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 2.284773e6

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

GenotypeQuality
all individuals: 5007
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
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GenotypeQuality
all individuals: 202
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GenotypeQuality
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GenotypeQuality
all individuals: 90
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3115
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.410878976096367e-5
allele num: 10626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61672
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
type: SiteQuality
SIO_000300: 2.288004e6

QD
type: SiteQuality
SIO_000300: 1.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2857
bin: 9.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 189

GenotypeQuality
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GenotypeQuality
all individuals: 2725
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GenotypeQuality
all individuals: 1865
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variant carriers: 3

GenotypeQuality
all individuals: 9727
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GenotypeQuality
all individuals: 98
bin: 4.25e1
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GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 70
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GenotypeQuality
all individuals: 3559
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4916
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variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 8.25e1
variant carriers: 2

Latino
type: Population
allele count: 28
allele frequency: 2.455278849526482e-3
allele num: 11404
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.564102564102564e-3
allele num: 780
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 155
allele frequency: 2.508496520472569e-3
allele num: 61790
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.042970379641218e-4
allele num: 9588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.768038383465584e-4
allele num: 10838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.543686322939179e-4
allele num: 6478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.291e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.64e0

FS
type: SiteQuality
SIO_000300: 5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.155e0

QD
type: SiteQuality
SIO_000300: 1.383e1

GenotypeQuality
all individuals: 23532
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 2.5e0
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GenotypeQuality
all individuals: 3135
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variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4903
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variant carriers: 0

GenotypeQuality
all individuals: 186
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GenotypeQuality
all individuals: 1861
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GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
all individuals: 3557
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variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.038637307852098e-4
allele num: 9628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.809542131589073e-4
allele num: 62376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.615e0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

DP
type: SiteQuality
SIO_000300: 2.302416e6

QD
type: SiteQuality
SIO_000300: 1.132e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 2.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 561
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3559
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2753
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23517
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2860
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1862
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597444089456869e-5
allele num: 62600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.744316194473592e-5
allele num: 11436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12994
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 1.008e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 2.308784e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

GenotypeQuality
all individuals: 3127
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23552
bin: 9.75e1
variant carriers: 137

GenotypeQuality
all individuals: 4953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 113
allele frequency: 1.163030053519967e-2
allele num: 9716
num of homozygotes: 1

Latino
type: Population
allele count: 8
allele frequency: 6.989341254586755e-4
allele num: 11446
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.404823226410677e-3
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.511258878645912e-4
allele num: 13234
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.21654501216545e-3
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.187250996015936e-5
allele num: 62750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 2.312466e6

QD
type: SiteQuality
SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11270
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23552
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2746
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4054
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2858
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

FS
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.312466e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

GenotypeQuality
all individuals: 503
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3828
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23486
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3577
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11599
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62924
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 4.53e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 2.315119e6

GenotypeQuality
all individuals: 2763
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3625
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23583
bin: 9.75e1
variant carriers: 346

GenotypeQuality
all individuals: 370
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2856
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5017
bin: 6.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.356843575418995e-3
allele num: 11456
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

African
type: Population
allele count: 316
allele frequency: 3.23240589198036e-2
allele num: 9776
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.9031910169384e-4
allele num: 63052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 2.320081e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.603e0

QD
type: SiteQuality
SIO_000300: 1.269e1

GenotypeQuality
all individuals: 23406
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11784
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5024
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.102272727272727e-5
allele num: 14080
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.093e1

FS
type: SiteQuality
SIO_000300: 1.778e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 2.318188e6

GenotypeQuality
all individuals: 5098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23401
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1866
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3070
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574604774201676e-5
allele num: 63508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

FS
type: SiteQuality
SIO_000300: 4.113e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.325951e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

GenotypeQuality
all individuals: 23403
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 303
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2993
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5055
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 8.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.868315865672112e-5
allele num: 63546
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.029632636492795e-4
allele num: 9854
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.325619e6

FS
type: SiteQuality
SIO_000300: 1.114e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.771e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23399
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12210
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 2872
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570845114671693e-5
allele num: 63660
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.41e1

VQSLOD
type: SiteQuality
SIO_000300: 2.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.326983e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.72e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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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bin: 4.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2869
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564015139666552e-5
allele num: 63938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.755e0

DP
type: SiteQuality
SIO_000300: 2.32827e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.164e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 497
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GenotypeQuality
all individuals: 2768
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.810791389383572e-5
allele num: 64014
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.329373e6

FS
type: SiteQuality
SIO_000300: 9.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.283e0

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

GenotypeQuality
all individuals: 1200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 1609
bin: 9.25e1
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GenotypeQuality
all individuals: 3761
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541497101985448e-5
allele num: 64872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

DP
type: SiteQuality
SIO_000300: 2.411001e6

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 2.527e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.02e-2

QD
type: SiteQuality
SIO_000300: 1.928e1

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 20

GenotypeQuality
all individuals: 1147
bin: 2.25e1
variant carriers: 67

GenotypeQuality
all individuals: 1609
bin: 9.25e1
variant carriers: 342

GenotypeQuality
all individuals: 194
bin: 2.5e0
variant carriers: 10

GenotypeQuality
all individuals: 3761
bin: 6.75e1
variant carriers: 265

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 127

GenotypeQuality
all individuals: 292
bin: 2.75e1
variant carriers: 41

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 87

GenotypeQuality
all individuals: 2037
bin: 8.25e1
variant carriers: 337

GenotypeQuality
all individuals: 2148
bin: 7.25e1
variant carriers: 212

GenotypeQuality
all individuals: 271
bin: 3.75e1
variant carriers: 105

GenotypeQuality
all individuals: 1200
bin: 8.75e1
variant carriers: 209

GenotypeQuality
all individuals: 34646
bin: 9.75e1
variant carriers: 29810

Latino
type: Population
allele count: 2399
allele frequency: 2.094099162011173e-1
allele num: 11456
num of homozygotes: 288

African
type: Population
allele count: 6820
allele frequency: 6.66015625e-1
allele num: 10240
num of homozygotes: 2282

Other
type: Population
allele count: 286
allele frequency: 3.294930875576037e-1
allele num: 868
num of homozygotes: 48

European (Finnish)
type: Population
allele count: 1499
allele frequency: 2.338533541341654e-1
allele num: 6410
num of homozygotes: 176

European (Non-Finnish)
type: Population
allele count: 20960
allele frequency: 3.2309779257615e-1
allele num: 64872
num of homozygotes: 3420

East Asian
type: Population
allele count: 2111
allele frequency: 2.469005847953216e-1
allele num: 8550
num of homozygotes: 260

South Asian
type: Population
allele count: 5735
allele frequency: 3.548886138613861e-1
allele num: 16160
num of homozygotes: 1018

DP
type: SiteQuality
SIO_000300: 2.411001e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.02e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

FS
type: SiteQuality
SIO_000300: 2.527e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.928e1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

GenotypeQuality
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 355
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variant carriers: 0

GenotypeQuality
all individuals: 187
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 121
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GenotypeQuality
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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: 2122
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GenotypeQuality
all individuals: 9547
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.22975330176925e-5
allele num: 16052
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64570
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.544e0

VQSLOD
type: SiteQuality
SIO_000300: -1.569e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.002e0

DP
type: SiteQuality
SIO_000300: 1.898402e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3722
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4239
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

DP
type: SiteQuality
SIO_000300: 1.897299e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.557e1

GenotypeQuality
all individuals: 2588
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 9533
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 448
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 2112
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3684
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GenotypeQuality
all individuals: 4202
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64486
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.988466892026248e-4
allele num: 10058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.293e1

FS
type: SiteQuality
SIO_000300: 3.093e0

MQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.772e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 1.893019e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeQuality
all individuals: 847
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variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 358
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GenotypeQuality
all individuals: 2584
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554388037429664e-5
allele num: 64334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 8.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 3.366e1

DP
type: SiteQuality
SIO_000300: 1.88411e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.275e0

GenotypeQuality
all individuals: 867
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 177
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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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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3644
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.574307304785894e-4
allele num: 6352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.392e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 1.879523e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.241418050181001e-5
allele num: 16022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.988e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

QD
type: SiteQuality
SIO_000300: 1.262e1

MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

DP
type: SiteQuality
SIO_000300: 1.874538e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.242976651267325e-5
allele num: 16018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64204
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.013e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.03e-1

DP
type: SiteQuality
SIO_000300: 1.873594e6

MQRankSum
type: SiteQuality
SIO_000300: -1.779e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 6.239e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 1

East Asian
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allele count: 2
allele frequency: 2.327746741154562e-4
allele num: 8592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 26
allele frequency: 1.62560960360135e-3
allele num: 15994
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.028197381671702e-4
allele num: 9930
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64100
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 1.870323e6

QD
type: SiteQuality
SIO_000300: 1.237e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5600624024961e-5
allele num: 64100
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

DP
type: SiteQuality
SIO_000300: 1.870323e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.306760847628658e-5
allele num: 15856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.155e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
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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

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.099004615819386e-4
allele num: 63694
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6356
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.770391159445712e-5
allele num: 11402
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6372
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.017087062652563e-4
allele num: 9832
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

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

Other
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.285750204286881e-5
allele num: 63636
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
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MQRankSum
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SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.956e0

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
all individuals: 755
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.773469029654326e-5
allele num: 11398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.806373e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.008e0

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 5.4e0

FS
type: SiteQuality
SIO_000300: 1.242e0

MQRankSum
type: SiteQuality
SIO_000300: 9.54e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 28

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: 4
allele frequency: 2.596391016487083e-4
allele num: 15406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

European (Finnish)
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allele count: 7
allele frequency: 1.094091903719912e-3
allele num: 6398
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.042970379641218e-4
allele num: 9588
num of homozygotes: 0

European (Non-Finnish)
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allele count: 16
allele frequency: 2.534533012292485e-4
allele num: 63128
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8544
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VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

FS
type: SiteQuality
SIO_000300: 1.097e0

DP
type: SiteQuality
SIO_000300: 1.787058e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.231e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.584083132682803e-5
allele num: 63128
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.097e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.231e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 1.787058e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.168166265365607e-5
allele num: 63128
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

FS
type: SiteQuality
SIO_000300: 1.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.279e0

QD
type: SiteQuality
SIO_000300: 1.231e1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

DP
type: SiteQuality
SIO_000300: 1.787058e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63308
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
SIO_000300: 5.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.456e1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

DP
type: SiteQuality
SIO_000300: 1.791078e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.451612903225807e-5
allele num: 15500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.579579200101093e-5
allele num: 63308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 1.791078e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.798169980644026e-5
allele num: 11366
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.789095e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.859e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.424257998201208e-5
allele num: 15566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.790161e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
SIO_000300: 2.908e0

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 6.24e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3733
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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East Asian
type: Population
allele count: 7
allele frequency: 8.173750583839327e-4
allele num: 8564
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.095336359884441e-4
allele num: 9692
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.793829e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.689e0

GenotypeQuality
all individuals: 4368
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3740
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1099
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9491
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 2054
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3496
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2533
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6610
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.637625289128759e-4
allele num: 15564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.01e-1

FS
type: SiteQuality
SIO_000300: 5.969e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.404e1

DP
type: SiteQuality
SIO_000300: 1.799916e6

GenotypeQuality
all individuals: 6839
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1853
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3788
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63718
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.438320885912955e-5
allele num: 15532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.839e1

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.721e0

FS
type: SiteQuality
SIO_000300: 4.356e0

VQSLOD
type: SiteQuality
SIO_000300: -2.315e0

QD
type: SiteQuality
SIO_000300: 1.743e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.95e-1

DP
type: SiteQuality
SIO_000300: 1.804325e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.82e-1

GenotypeQuality
all individuals: 411
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6953
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3584
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 3.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56843062831331e-5
allele num: 63758
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.809752e6

QD
type: SiteQuality
SIO_000300: 1.121e1

MQRankSum
type: SiteQuality
SIO_000300: -1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.570000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.412e0

VQSLOD
type: SiteQuality
SIO_000300: -6.922e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3790
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7359
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variant carriers: 0

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9884
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558700667123886e-5
allele num: 64156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.237e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 9.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

FS
type: SiteQuality
SIO_000300: 3.141e0

DP
type: SiteQuality
SIO_000300: 1.838626e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.653e0

GenotypeQuality
all individuals: 734
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4239
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4971
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9590
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.989e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 1.855198e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.838e1

GenotypeQuality
all individuals: 896
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 986
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variant carriers: 0

GenotypeQuality
all individuals: 17907
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3965
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
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variant carriers: 0

GenotypeQuality
all individuals: 456
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549042691616581e-5
allele num: 64556
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.3636e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.277e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.831e0

QD
type: SiteQuality
SIO_000300: 1.154e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.863035e6

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2046
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
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variant carriers: 0

GenotypeQuality
all individuals: 4102
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variant carriers: 0

GenotypeQuality
all individuals: 7841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2744
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variant carriers: 0

GenotypeQuality
all individuals: 18542
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9954
bin: 9.75e1
variant carriers: 294

European (Finnish)
type: Population
allele count: 194
allele frequency: 2.960024412572475e-2
allele num: 6554
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 9.070294784580499e-3
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 95
allele frequency: 1.463519842247966e-3
allele num: 64912
num of homozygotes: 1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.471e1

FS
type: SiteQuality
SIO_000300: 7.89e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

DP
type: SiteQuality
SIO_000300: 1.88761e6

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.154e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.99e-1