2-43519261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519261
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519261
    reference: chr 2
allele count: 1
allele frequency: 1.326154417420364e-5
allele num: 75406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125356A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4919A>G
  hgvsp: ENSP00000386088.2:p.Asp1640Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3962A>G
  hgvsp: ENSP00000416048.2:p.Asp1321Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4919A>G
  hgvsp: ENSP00000385995.4:p.Asp1640Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2638A>G
  hgvsp: ENSP00000386112.1:p.Asp880Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3835A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.334A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp1640Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-43519264-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519264
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519264
    reference: chr 2
allele count: 1
allele frequency: 1.279885322275124e-5
allele num: 78132
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.331T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125359T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4916T>C
  hgvsp: ENSP00000386088.2:p.Met1639Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4916T>C
  hgvsp: ENSP00000385995.4:p.Met1639Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3959T>C
  hgvsp: ENSP00000416048.2:p.Met1320Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2635T>C
  hgvsp: ENSP00000386112.1:p.Met879Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3832T>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5258
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met1639Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

2-43519265-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519265
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519265
    reference: chr 2
allele count: 1
allele frequency: 1.26806999746386e-5
allele num: 78860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.330A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3958A>G
  hgvsp: ENSP00000416048.2:p.Met1320Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4915A>G
  hgvsp: ENSP00000386088.2:p.Met1639Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3831A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4915A>G
  hgvsp: ENSP00000385995.4:p.Met1639Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2634A>G
  hgvsp: ENSP00000386112.1:p.Met879Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125360A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24795
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met1639Val
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-43519266-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519266
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519266
    reference: chr 2
allele count: 21
allele frequency: 2.631051418262003e-4
allele num: 79816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2633G>A
  hgvsp: ENST00000407351.1:c.2633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3957G>A
  hgvsp: ENST00000415080.2:c.3957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4914G>A
  hgvsp: ENST00000405975.2:c.4914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4914G>A
  hgvsp: ENST00000405006.4:c.4914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3830G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125361G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.329G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25371
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4997
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20647
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2998
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1693
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1638Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-43519267-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519267
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519267
    reference: chr 2
allele count: 9
allele frequency: 1.103617412630288e-4
allele num: 81550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3829C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4913C>T
  hgvsp: ENSP00000385995.4:p.Thr1638Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.328C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2632C>T
  hgvsp: ENSP00000386112.1:p.Thr878Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4913C>T
  hgvsp: ENSP00000386088.2:p.Thr1638Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125362C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3956C>T
  hgvsp: ENSP00000416048.2:p.Thr1319Met
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr1638Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-43519269-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519269
    reference: chr 2
allele count: 6
allele frequency: 7.158708568974158e-5
allele num: 83814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3954G>A
  hgvsp: ENSP00000416048.2:p.Trp1318Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2630G>A
  hgvsp: ENSP00000386112.1:p.Trp877Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4911G>A
  hgvsp: ENSP00000385995.4:p.Trp1637Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3827G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125364G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4911G>A
  hgvsp: ENSP00000386088.2:p.Trp1637Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.326G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Trp1637Ter
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/2-43519281-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519281
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519281
    reference: chr 2
allele count: 1
allele frequency: 1.101127554615927e-5
allele num: 90816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3815G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3942G>T
  hgvsp: ENSP00000416048.2:p.Glu1314Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2618G>T
  hgvsp: ENSP00000386112.1:p.Glu873Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.314G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125376G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4899G>T
  hgvsp: ENSP00000385995.4:p.Glu1633Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4899G>T
  hgvsp: ENSP00000386088.2:p.Glu1633Asp
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15980
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1633Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-43519287-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519287
    reference: chr 2
allele count: 2
allele frequency: 2.165298919515839e-5
allele num: 92366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.308A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3809A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3936A>C
  hgvsp: ENST00000415080.2:c.3936A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4893A>C
  hgvsp: ENST00000405975.2:c.4893A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125382A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4893A>C
  hgvsp: ENST00000405006.4:c.4893A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2612A>C
  hgvsp: ENST00000407351.1:c.2612A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30381
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1631Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-43519295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519295
    reference: chr 2
allele count: 107
allele frequency: 1.136919055613405e-3
allele num: 94114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2604C>T
  hgvsp: ENST00000407351.1:c.2604C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125390C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3928C>T
  hgvsp: ENST00000415080.2:c.3928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3801C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4885C>T
  hgvsp: ENST00000405975.2:c.4885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4885C>T
  hgvsp: ENST00000405006.4:c.4885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.300C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30672
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1629Leu
num of homozygotes: 2
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-43519298-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519298
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519298
    reference: chr 2
allele count: 1
allele frequency: 1.057619087909299e-5
allele num: 94552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.297C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2601C>T
  hgvsp: ENSP00000386112.1:p.His868Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3798C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4882C>T
  hgvsp: ENSP00000386088.2:p.His1628Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3925C>T
  hgvsp: ENSP00000416048.2:p.His1309Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125393C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4882C>T
  hgvsp: ENSP00000385995.4:p.His1628Tyr
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His1628Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-43519299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519299
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519299
    reference: chr 2
allele count: 1
allele frequency: 1.057328342743556e-5
allele num: 94578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125394C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4881C>T
  hgvsp: ENST00000405975.2:c.4881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.296C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4881C>T
  hgvsp: ENST00000405006.4:c.4881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2600C>T
  hgvsp: ENST00000407351.1:c.2600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3924C>T
  hgvsp: ENST00000415080.2:c.3924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3797C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val1627Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-43519303-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519303
    reference: chr 2
allele count: 5
allele frequency: 5.261385638521761e-5
allele num: 95032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125398G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3793G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4877G>C
  hgvsp: ENSP00000385995.4:p.Cys1626Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2596G>C
  hgvsp: ENSP00000386112.1:p.Cys866Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.292G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3920G>C
  hgvsp: ENSP00000416048.2:p.Cys1307Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4877G>C
  hgvsp: ENSP00000386088.2:p.Cys1626Ser
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30642
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys1626Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

2-43519306-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519306
    reference: chr 2
allele count: 1
allele frequency: 1.053518752633797e-5
allele num: 94920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3790A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125401A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3917A>C
  hgvsp: ENSP00000416048.2:p.His1306Pro
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4874A>C
  hgvsp: ENSP00000385995.4:p.His1625Pro
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2593A>C
  hgvsp: ENSP00000386112.1:p.His865Pro
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.289A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4874A>C
  hgvsp: ENSP00000386088.2:p.His1625Pro
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15077
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His1625Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

2-43519310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519310
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519310
    reference: chr 2
allele count: 3
allele frequency: 3.154043483746162e-5
allele num: 95116
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4870G>A
  hgvsp: ENSP00000385995.4:p.Glu1624Lys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.285G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125405G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2589G>A
  hgvsp: ENSP00000386112.1:p.Glu864Lys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4870G>A
  hgvsp: ENSP00000386088.2:p.Glu1624Lys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3913G>A
  hgvsp: ENSP00000416048.2:p.Glu1305Lys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3786G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31459
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1624Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-43519311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519311
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519311
    reference: chr 2
allele count: 5
allele frequency: 5.263822798669306e-5
allele num: 94988
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4869G>A
  hgvsp: ENST00000405006.4:c.4869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4869G>A
  hgvsp: ENST00000405975.2:c.4869G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3785G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.284G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125406G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3912G>A
  hgvsp: ENST00000415080.2:c.3912G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2588G>A
  hgvsp: ENST00000407351.1:c.2588G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29806
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2982
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr1623Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

2-43519312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519312
    reference: chr 2
allele count: 1
allele frequency: 1.054118440748003e-5
allele num: 94866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2587C>T
  hgvsp: ENSP00000386112.1:p.Thr863Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.283C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4868C>T
  hgvsp: ENSP00000385995.4:p.Thr1623Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125407C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3784C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3911C>T
  hgvsp: ENSP00000416048.2:p.Thr1304Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4868C>T
  hgvsp: ENSP00000386088.2:p.Thr1623Met
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1623Met
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-43519312-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519312
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519312
    reference: chr 2
allele count: 1
allele frequency: 1.054118440748003e-5
allele num: 94866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.283C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4868C>G
  hgvsp: ENSP00000385995.4:p.Thr1623Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2587C>G
  hgvsp: ENSP00000386112.1:p.Thr863Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4868C>G
  hgvsp: ENSP00000386088.2:p.Thr1623Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3784C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3911C>G
  hgvsp: ENSP00000416048.2:p.Thr1304Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125407C>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4814
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1623Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-43519313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519313
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519313
    reference: chr 2
allele count: 1
allele frequency: 1.051148905753989e-5
allele num: 95134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2586A>G
  hgvsp: ENSP00000386112.1:p.Thr863Ala
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125408A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3783A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4867A>G
  hgvsp: ENSP00000385995.4:p.Thr1623Ala
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3910A>G
  hgvsp: ENSP00000416048.2:p.Thr1304Ala
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4867A>G
  hgvsp: ENSP00000386088.2:p.Thr1623Ala
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.282A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31641
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr1623Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

2-43519317-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519317
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519317
    reference: chr 2
allele count: 1
allele frequency: 1.052476477150736e-5
allele num: 95014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.278C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3779C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4863C>G
  hgvsp: ENST00000405006.4:c.4863C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3906C>G
  hgvsp: ENST00000415080.2:c.3906C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125412C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2582C>G
  hgvsp: ENST00000407351.1:c.2582C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4863C>G
  hgvsp: ENST00000405975.2:c.4863C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro1621Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-43519319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519319
    reference: chr 2
allele count: 13
allele frequency: 1.400499870723089e-4
allele num: 92824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4861C>T
  hgvsp: ENSP00000386088.2:p.Pro1621Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2580C>T
  hgvsp: ENSP00000386112.1:p.Pro861Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125414C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3904C>T
  hgvsp: ENSP00000416048.2:p.Pro1302Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4861C>T
  hgvsp: ENSP00000385995.4:p.Pro1621Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.276C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3777C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16083
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Pro1621Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-43519324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519324
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519324
    reference: chr 2
allele count: 1
allele frequency: 1.063671368094114e-5
allele num: 94014
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4856G>A
  hgvsp: ENSP00000386088.2:p.Trp1619Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.271G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3899G>A
  hgvsp: ENSP00000416048.2:p.Trp1300Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2575G>A
  hgvsp: ENSP00000386112.1:p.Trp859Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3772G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4856G>A
  hgvsp: ENSP00000385995.4:p.Trp1619Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125419G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6004
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2968
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17384
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp1619Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-43519336-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519336
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519336
    reference: chr 2
allele count: 1
allele frequency: 1.126354441215562e-5
allele num: 88782
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4844A>G
  hgvsp: ENSP00000385995.4:p.Asp1615Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3760A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2563A>G
  hgvsp: ENSP00000386112.1:p.Asp855Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.259A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3887A>G
  hgvsp: ENSP00000416048.2:p.Asp1296Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125431A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4844A>G
  hgvsp: ENSP00000386088.2:p.Asp1615Gly
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25353
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp1615Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

2-43519340-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519340
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519340
    reference: chr 2
allele count: 1
allele frequency: 1.155401502021953e-5
allele num: 86550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2559A>T
  hgvsp: ENSP00000386112.1:p.Met854Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3883A>T
  hgvsp: ENSP00000416048.2:p.Met1295Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.255A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4840A>T
  hgvsp: ENSP00000386088.2:p.Met1614Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4840A>T
  hgvsp: ENSP00000385995.4:p.Met1614Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3756A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125435A>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22462
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1614Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-43519343-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519343
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519343
    reference: chr 2
allele count: 1
allele frequency: 1.17680286198456e-5
allele num: 84976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3880T>C
  hgvsp: ENSP00000416048.2:p.Cys1294Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3753T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4837T>C
  hgvsp: ENSP00000385995.4:p.Cys1613Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125438T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2556T>C
  hgvsp: ENSP00000386112.1:p.Cys853Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4837T>C
  hgvsp: ENSP00000386088.2:p.Cys1613Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.252T>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17504
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys1613Arg
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-43519344-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519344
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519344
    reference: chr 2
allele count: 3
allele frequency: 3.551809054745217e-5
allele num: 84464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125439C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4836C>T
  hgvsp: ENST00000405975.2:c.4836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3879C>T
  hgvsp: ENST00000415080.2:c.3879C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2555C>T
  hgvsp: ENST00000407351.1:c.2555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3752C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4836C>T
  hgvsp: ENST00000405006.4:c.4836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.251C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17044
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His1612His
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-43519346-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519346
    reference: chr 2
allele count: 1
allele frequency: 1.199328376109379e-5
allele num: 83380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.249C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4834C>T
  hgvsp: ENSP00000385995.4:p.His1612Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2553C>T
  hgvsp: ENSP00000386112.1:p.His852Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125441C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4834C>T
  hgvsp: ENSP00000386088.2:p.His1612Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3877C>T
  hgvsp: ENSP00000416048.2:p.His1293Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3750C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4830
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His1612Tyr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum

2-43519349-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519349
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519349
    reference: chr 2
allele count: 3
allele frequency: 3.670712607674237e-5
allele num: 81728
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4831C>G
  hgvsp: ENSP00000385995.4:p.Leu1611Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125444C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4831C>G
  hgvsp: ENSP00000386088.2:p.Leu1611Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2550C>G
  hgvsp: ENSP00000386112.1:p.Leu851Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.246C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3747C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3874C>G
  hgvsp: ENSP00000416048.2:p.Leu1292Val
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu1611Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-43519356-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519356
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519356
    reference: chr 2
allele count: 1
allele frequency: 1.284257570698379e-5
allele num: 77866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3740G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2543G>T
  hgvsp: ENST00000407351.1:c.2543G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125451G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3867G>T
  hgvsp: ENST00000415080.2:c.3867G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4824G>T
  hgvsp: ENST00000405006.4:c.4824G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.239G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4824G>T
  hgvsp: ENST00000405975.2:c.4824G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1608Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-43519378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519378
    reference: chr 2
allele count: 2
allele frequency: 3.484684810258912e-5
allele num: 57394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4819-17G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2538-17G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4819-17G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.234-17G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3735-17G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125473G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3862-17G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19488
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1806
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10319
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-43519379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519379
    reference: chr 2
allele count: 12
allele frequency: 2.18842324105482e-4
allele num: 54834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.234-18C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4819-18C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3735-18C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3862-18C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4819-18C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2538-18C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125474C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21600
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19090
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-43519384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519384
    reference: chr 2
allele count: 1
allele frequency: 2.03210729526519e-5
allele num: 49210
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4819-23G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125479G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4819-23G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.234-23G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3862-23G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2538-23G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3735-23G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17081
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14272
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1785
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

2-43519391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519391
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519391
    reference: chr 2
allele count: 2
allele frequency: 4.852484472049689e-5
allele num: 41216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2538-30C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.234-30C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3735-30C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3862-30C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-125486C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4819-30C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4819-30C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13597
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18284
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-43519393-GAAAT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519393
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519389
    reference: chr 2
allele count: 1
allele frequency: 2.579846241164027e-5
allele num: 38762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.234-36_234-33delATTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3735-36_*3735-33delATTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2538-36_2538-33delATTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4819-36_4819-33delATTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4819-36_4819-33delATTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3862-36_3862-33delATTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19525
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1539
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: GAAAT
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-43519932-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519932
    reference: chr 2
allele count: 1
allele frequency: 9.300249246679811e-6
allele num: 107524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+41A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+41A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+41A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+41A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126027A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+41A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+41A>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15500
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-43519936-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519936
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519936
    reference: chr 2
allele count: 1
allele frequency: 9.278503562945369e-6
allele num: 107776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+37C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+37C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126031C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+37C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+37C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+37C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+37C>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11539
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-43519937-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519937
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519937
    reference: chr 2
allele count: 1
allele frequency: 9.27798704793008e-6
allele num: 107782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126032T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+36T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+36T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+36T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+36T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+36T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+36T>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15561
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3039
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

2-43519940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519940
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519940
    reference: chr 2
allele count: 1
allele frequency: 9.261488876951858e-6
allele num: 107974
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+33C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+33C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+33C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+33C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+33C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+33C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126035C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1050
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11544
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-43519941-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519941
    reference: chr 2
allele count: 1
allele frequency: 9.255831173639393e-6
allele num: 108040
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 11559
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.648043772042586e-5
  allele num: 60678
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11362
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8272
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 792
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-43519941-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519941
    reference: chr 2
allele count: 22
allele frequency: 2.036282858200666e-4
allele num: 108040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+32A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+32A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+32A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+32A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126036A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+32A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+32A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

2-43519941-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519942
    reference: chr 2
allele count: 1
allele frequency: 9.255831173639393e-6
allele num: 108040
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126037dupT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+31dupT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+31dupT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+31dupT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+31dupT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+31dupT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+31dupT
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4892
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3153
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

2-43519959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519959
    reference: chr 2
allele count: 46
allele frequency: 4.156876920296403e-4
allele num: 110660
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+14C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126054C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+14C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+14C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+14C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+14C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+14C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15916
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11718
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

2-43519960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519960
    reference: chr 2
allele count: 2
allele frequency: 1.803881953964933e-5
allele num: 110872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126055A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+13A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+13A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+13A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+13A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+13A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+13A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20571
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3044
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11549
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-43519967-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519967
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519968
    reference: chr 2
allele count: 1
allele frequency: 8.902658333778466e-6
allele num: 112326
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+5dupA
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126063dupA
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+5dupA
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+5dupA
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+5dupA
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+5dupA
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+5dupA
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
hgvs: c.4818+5dupA
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-43519972-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519972
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519972
    reference: chr 2
allele count: 1
allele frequency: 8.824100382965956e-6
allele num: 113326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2537+1G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4818+1G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.233+1G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3734+1G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4818+1G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3861+1G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126067G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
hgvs: c.4818+1G>A
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

2-43519977-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519977
    reference: chr 2
allele count: 3
allele frequency: 2.614789247986612e-5
allele num: 114732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4814G>C
  hgvsp: ENSP00000386088.2:p.Cys1605Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.229G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4814G>C
  hgvsp: ENSP00000385995.4:p.Cys1605Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3730G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3857G>C
  hgvsp: ENSP00000416048.2:p.Cys1286Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2533G>C
  hgvsp: ENSP00000386112.1:p.Cys845Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126072G>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15325
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Cys1605Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

2-43519977-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43519977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43519977
    reference: chr 2
allele count: 11241
allele frequency: 9.797615312205836e-2
allele num: 114732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3730G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2533G>A
  hgvsp: ENSP00000386112.1:p.Cys845Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3857G>A
  hgvsp: ENSP00000416048.2:p.Cys1286Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4814G>A
  hgvsp: ENSP00000385995.4:p.Cys1605Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.229G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4814G>A
  hgvsp: ENSP00000386088.2:p.Cys1605Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126072G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 8.25e1
  variant carriers: 764
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 795
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 9.75e1
  variant carriers: 1926
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 4.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 16050
  bin: 2.75e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 4.75e1
  variant carriers: 367
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 7.5e0
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 8053
  bin: 2.25e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 5.75e1
  variant carriers: 598
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 6.75e1
  variant carriers: 813
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 3.75e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.25e1
  variant carriers: 825
genotype depth: GenotypeDepth
  all individuals: 11104
  bin: 3.25e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  variant carriers: 636
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 5.25e1
  variant carriers: 524
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.25e1
  variant carriers: 728
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 551
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 7482
  bin: 6.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 7.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 21527
  bin: 6.25e1
  variant carriers: 25
hgvs: p.Cys1605Tyr
num of homozygotes: 644
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-43520000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520000
    reference: chr 2
allele count: 2
allele frequency: 1.71294472327378e-5
allele num: 116758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3834G>A
  hgvsp: ENST00000415080.2:c.3834G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2510G>A
  hgvsp: ENST00000407351.1:c.2510G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126095G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4791G>A
  hgvsp: ENST00000405975.2:c.4791G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4791G>A
  hgvsp: ENST00000405006.4:c.4791G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3707G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.206G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4569
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys1597Lys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-43520005-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520005
    reference: chr 2
allele count: 63
allele frequency: 5.381671564272535e-4
allele num: 117064
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126100A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.201A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3702A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4786A>G
  hgvsp: ENSP00000386088.2:p.Met1596Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2505A>G
  hgvsp: ENSP00000386112.1:p.Met836Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3829A>G
  hgvsp: ENSP00000416048.2:p.Met1277Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4786A>G
  hgvsp: ENSP00000385995.4:p.Met1596Val
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 20210
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met1596Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-43520006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520006
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520006
    reference: chr 2
allele count: 1
allele frequency: 8.537522410996328e-6
allele num: 117130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.200C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3828C>T
  hgvsp: ENST00000415080.2:c.3828C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4785C>T
  hgvsp: ENST00000405006.4:c.4785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4785C>T
  hgvsp: ENST00000405975.2:c.4785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3701C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2504C>T
  hgvsp: ENST00000407351.1:c.2504C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126101C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20260
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1595Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

2-43520009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520009
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520009
    reference: chr 2
allele count: 36
allele frequency: 3.068268984914344e-4
allele num: 117330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3698G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2501G>A
  hgvsp: ENST00000407351.1:c.2501G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3825G>A
  hgvsp: ENST00000415080.2:c.3825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126104G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4782G>A
  hgvsp: ENST00000405975.2:c.4782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.197G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4782G>A
  hgvsp: ENST00000405006.4:c.4782G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 9777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1594Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum

2-43520010-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520010
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520010
    reference: chr 2
allele count: 1
allele frequency: 8.515856524849269e-6
allele num: 117428
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4781T>C
  hgvsp: ENSP00000385995.4:p.Leu1594Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.196T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2500T>C
  hgvsp: ENSP00000386112.1:p.Leu834Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4781T>C
  hgvsp: ENSP00000386088.2:p.Leu1594Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3697T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126105T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3824T>C
  hgvsp: ENSP00000416048.2:p.Leu1275Ser
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1594Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-43520012-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520012
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520012
    reference: chr 2
allele count: 1
allele frequency: 8.509189925119129e-6
allele num: 117520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2498G>T
  hgvsp: ENSP00000386112.1:p.Leu833Phe
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3822G>T
  hgvsp: ENSP00000416048.2:p.Leu1274Phe
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4779G>T
  hgvsp: ENSP00000386088.2:p.Leu1593Phe
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3695G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.194G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4779G>T
  hgvsp: ENSP00000385995.4:p.Leu1593Phe
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126107G>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1593Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

2-43520014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520014
    reference: chr 2
allele count: 1
allele frequency: 8.498198381943028e-6
allele num: 117672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4777T>C
  hgvsp: ENST00000405975.2:c.4777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4777T>C
  hgvsp: ENST00000405006.4:c.4777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.192T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3820T>C
  hgvsp: ENST00000415080.2:c.3820T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2496T>C
  hgvsp: ENST00000407351.1:c.2496T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3693T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126109T>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27862
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1593Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-43520023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520023
    reference: chr 2
allele count: 1
allele frequency: 8.464390309965973e-6
allele num: 118142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4768A>G
  hgvsp: ENSP00000385995.4:p.Lys1590Glu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3811A>G
  hgvsp: ENSP00000416048.2:p.Lys1271Glu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3684A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.183A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4768A>G
  hgvsp: ENSP00000386088.2:p.Lys1590Glu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2487A>G
  hgvsp: ENSP00000386112.1:p.Lys830Glu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126118A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys1590Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-43520024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520024
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520024
    reference: chr 2
allele count: 1
allele frequency: 8.461382251404589e-6
allele num: 118184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.182G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3810G>A
  hgvsp: ENST00000415080.2:c.3810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4767G>A
  hgvsp: ENST00000405006.4:c.4767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4767G>A
  hgvsp: ENST00000405975.2:c.4767G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126119G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3683G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2486G>A
  hgvsp: ENST00000407351.1:c.2486G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5723
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu1589Glu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-43520028-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520028
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520028
    reference: chr 2
allele count: 1
allele frequency: 8.446373971653969e-6
allele num: 118394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3806G>T
  hgvsp: ENSP00000416048.2:p.Gly1269Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2482G>T
  hgvsp: ENSP00000386112.1:p.Gly828Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3679G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126123G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4763G>T
  hgvsp: ENSP00000386088.2:p.Gly1588Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4763G>T
  hgvsp: ENSP00000385995.4:p.Gly1588Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.178G>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20474
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1588Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

2-43520029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520029
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520029
    reference: chr 2
allele count: 1
allele frequency: 8.444376889429329e-6
allele num: 118422
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3678G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2481G>A
  hgvsp: ENSP00000386112.1:p.Gly828Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4762G>A
  hgvsp: ENSP00000386088.2:p.Gly1588Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.177G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4762G>A
  hgvsp: ENSP00000385995.4:p.Gly1588Arg
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126124G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3805G>A
  hgvsp: ENSP00000416048.2:p.Gly1269Arg
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1588Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

2-43520034-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520034
    reference: chr 2
allele count: 1
allele frequency: 8.423748231012871e-6
allele num: 118712
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4757A>G
  hgvsp: ENSP00000385995.4:p.Asn1586Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4757A>G
  hgvsp: ENSP00000386088.2:p.Asn1586Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3800A>G
  hgvsp: ENSP00000416048.2:p.Asn1267Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3673A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126129A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.172A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2476A>G
  hgvsp: ENSP00000386112.1:p.Asn826Ser
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28346
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1586Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

2-43520046-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520046
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520046
    reference: chr 2
allele count: 2
allele frequency: 1.676811375488371e-5
allele num: 119274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3661C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126141C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.160C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2464C>A
  hgvsp: ENSP00000386112.1:p.Pro822His
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3788C>A
  hgvsp: ENSP00000416048.2:p.Pro1263His
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4745C>A
  hgvsp: ENSP00000386088.2:p.Pro1582His
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4745C>A
  hgvsp: ENSP00000385995.4:p.Pro1582His
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1582His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-43520047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520047
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520047
    reference: chr 2
allele count: 1
allele frequency: 8.380262805041566e-6
allele num: 119328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3660C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.159C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126142C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3787C>T
  hgvsp: ENSP00000416048.2:p.Pro1263Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2463C>T
  hgvsp: ENSP00000386112.1:p.Pro822Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4744C>T
  hgvsp: ENSP00000386088.2:p.Pro1582Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4744C>T
  hgvsp: ENSP00000385995.4:p.Pro1582Ser
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1582Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-43520053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520053
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520053
    reference: chr 2
allele count: 4
allele frequency: 3.345488608611288e-5
allele num: 119564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126148G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2457G>A
  hgvsp: ENSP00000386112.1:p.Val820Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3781G>A
  hgvsp: ENSP00000416048.2:p.Val1261Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4738G>A
  hgvsp: ENSP00000385995.4:p.Val1580Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4738G>A
  hgvsp: ENSP00000386088.2:p.Val1580Met
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.153G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3654G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5707
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1580Met
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-43520054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520054
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520054
    reference: chr 2
allele count: 3
allele frequency: 2.507438734913577e-5
allele num: 119644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4737C>T
  hgvsp: ENST00000405975.2:c.4737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126149C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2456C>T
  hgvsp: ENST00000407351.1:c.2456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3780C>T
  hgvsp: ENST00000415080.2:c.3780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3653C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4737C>T
  hgvsp: ENST00000405006.4:c.4737C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.152C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9631
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28708
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1579Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-43520055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520055
    reference: chr 2
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4736G>A
  hgvsp: ENSP00000385995.4:p.Gly1579Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2455G>A
  hgvsp: ENSP00000386112.1:p.Gly819Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126150G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3779G>A
  hgvsp: ENSP00000416048.2:p.Gly1260Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4736G>A
  hgvsp: ENSP00000386088.2:p.Gly1579Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3652G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.151G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly1579Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-43520076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520076
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520076
    reference: chr 2
allele count: 1
allele frequency: 8.319190709127816e-6
allele num: 120204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126171C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3758C>T
  hgvsp: ENSP00000416048.2:p.Ala1253Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2434C>T
  hgvsp: ENSP00000386112.1:p.Ala812Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4715C>T
  hgvsp: ENSP00000385995.4:p.Ala1572Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.130C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3631C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4715C>T
  hgvsp: ENSP00000386088.2:p.Ala1572Val
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala1572Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-43520079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520079
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520079
    reference: chr 2
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.127C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4712C>T
  hgvsp: ENSP00000386088.2:p.Ala1571Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3628C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3755C>T
  hgvsp: ENSP00000416048.2:p.Ala1252Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2431C>T
  hgvsp: ENSP00000386112.1:p.Ala811Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4712C>T
  hgvsp: ENSP00000385995.4:p.Ala1571Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126174C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9490
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala1571Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP

2-43520082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520082
    reference: chr 2
allele count: 1
allele frequency: 8.313242996092776e-6
allele num: 120290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.124C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126177C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3625C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4709C>T
  hgvsp: ENSP00000385995.4:p.Ala1570Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2428C>T
  hgvsp: ENSP00000386112.1:p.Ala810Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4709C>T
  hgvsp: ENSP00000386088.2:p.Ala1570Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3752C>T
  hgvsp: ENSP00000416048.2:p.Ala1251Val
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5671
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1570Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-43520083-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520083
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520083
    reference: chr 2
allele count: 1
allele frequency: 8.311584686736373e-6
allele num: 120314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3751G>T
  hgvsp: ENSP00000416048.2:p.Ala1251Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2427G>T
  hgvsp: ENSP00000386112.1:p.Ala810Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3624G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4708G>T
  hgvsp: ENSP00000385995.4:p.Ala1570Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4708G>T
  hgvsp: ENSP00000386088.2:p.Ala1570Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.123G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126178G>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5669
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1570Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

2-43520102-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520102
    reference: chr 2
allele count: 60
allele frequency: 4.982147305488666e-4
allele num: 120430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126197C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4689C>T
  hgvsp: ENST00000405975.2:c.4689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3605C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.104C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3732C>T
  hgvsp: ENST00000415080.2:c.3732C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4689C>T
  hgvsp: ENST00000405006.4:c.4689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2408C>T
  hgvsp: ENST00000407351.1:c.2408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12909
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20007
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1563Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-43520103-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520103
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520103
    reference: chr 2
allele count: 2
allele frequency: 1.660660610790973e-5
allele num: 120434
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4688C>A
  hgvsp: ENSP00000385995.4:p.Ala1563Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126198C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.103C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4688C>A
  hgvsp: ENSP00000386088.2:p.Ala1563Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3731C>A
  hgvsp: ENSP00000416048.2:p.Ala1244Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2407C>A
  hgvsp: ENSP00000386112.1:p.Ala803Asp
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3604C>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1563Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

2-43520107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520107
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520107
    reference: chr 2
allele count: 3
allele frequency: 2.490618669677548e-5
allele num: 120452
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126202G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2403G>A
  hgvsp: ENSP00000386112.1:p.Glu802Lys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4684G>A
  hgvsp: ENSP00000385995.4:p.Glu1562Lys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3727G>A
  hgvsp: ENSP00000416048.2:p.Glu1243Lys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4684G>A
  hgvsp: ENSP00000386088.2:p.Glu1562Lys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3600G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.99G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3572
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11911
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu1562Lys
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-43520110-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520110
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520110
    reference: chr 2
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3597C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4681C>T
  hgvsp: ENST00000405006.4:c.4681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3724C>T
  hgvsp: ENST00000415080.2:c.3724C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4681C>T
  hgvsp: ENST00000405975.2:c.4681C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126205C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.96C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2400C>T
  hgvsp: ENST00000407351.1:c.2400C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu1561Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-43520115-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43520115
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43520115
    reference: chr 2
allele count: 1
allele frequency: 8.300821781356355e-6
allele num: 120470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.3189-126210T>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.4676T>A
  hgvsp: ENSP00000386088.2:p.Leu1559Gln
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115970
  ensembl transcript: ENST00000485018
  gene symbol: THADA
  hgvsc: ENST00000485018.1:n.91T>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*3592T>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.2395T>A
  hgvsp: ENSP00000386112.1:p.Leu799Gln
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.3719T>A
  hgvsp: ENSP00000416048.2:p.Leu1240Gln
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.4676T>A
  hgvsp: ENSP00000385995.4:p.Leu1559Gln
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1559Gln
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.364737041241014e-5
allele num: 42288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.271e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.831e0

DP
type: SiteQuality
SIO_000300: 1.094039e6

MQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.215e1

GenotypeQuality
all individuals: 2982
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1045
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.281542322610084e-5
allele num: 43830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.047e-1

QD
type: SiteQuality
SIO_000300: 1.095e1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

FS
type: SiteQuality
SIO_000300: 9.08e-1

DP
type: SiteQuality
SIO_000300: 1.119431e6

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24774
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.69606512890095e-4
allele num: 5896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44246
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.457e0

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.126242e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.196e1

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 396
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1790
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25805
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4644
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.45900204260286e-4
allele num: 6854
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.379103357719002e-5
allele num: 10662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 4.240882103477523e-4
allele num: 44802
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.72e-1

FS
type: SiteQuality
SIO_000300: 4.168e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

QD
type: SiteQuality
SIO_000300: 1.145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.138277e6

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19899
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1497
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variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
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variant carriers: 0

GenotypeQuality
all individuals: 247
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variant carriers: 0

GenotypeQuality
all individuals: 162
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GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2990
bin: 9.75e1
variant carriers: 9

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.440922190201729e-4
allele num: 6940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.52885161403049e-4
allele num: 45786
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.577287066246057e-4
allele num: 6340
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.166e0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.316e1

DP
type: SiteQuality
SIO_000300: 1.153282e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

GenotypeQuality
all individuals: 28514
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
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variant carriers: 0

GenotypeQuality
all individuals: 1468
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variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
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variant carriers: 0

GenotypeQuality
all individuals: 164
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variant carriers: 1

GenotypeQuality
all individuals: 1568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 9.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.366993505666624e-5
allele num: 47118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11080
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.261363636363636e-4
allele num: 7040
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

QD
type: SiteQuality
SIO_000300: 1.55e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e0

FS
type: SiteQuality
SIO_000300: 6.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.172536e6

GenotypeQuality
all individuals: 31477
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
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variant carriers: 0

GenotypeQuality
all individuals: 781
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variant carriers: 0

GenotypeQuality
all individuals: 467
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 1176
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variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 165
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51070
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.403361344537815e-5
allele num: 11900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.933e0

QD
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 1.578e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.48e-1

MQ
type: SiteQuality
SIO_000300: 5.845e1

DP
type: SiteQuality
SIO_000300: 1.232597e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.355e0

GenotypeQuality
all individuals: 1230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
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GenotypeQuality
all individuals: 262
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variant carriers: 0

GenotypeQuality
all individuals: 842
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variant carriers: 0

GenotypeQuality
all individuals: 413
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GenotypeQuality
all individuals: 29974
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GenotypeQuality
all individuals: 167
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GenotypeQuality
all individuals: 464
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variant carriers: 0

GenotypeQuality
all individuals: 15423
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.655355073663301e-4
allele num: 12082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51974
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.426e0

QD
type: SiteQuality
SIO_000300: 1.415e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 1.161e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.245056e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

GenotypeQuality
all individuals: 1108
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14894
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 887
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variant carriers: 0

GenotypeQuality
all individuals: 31954
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GenotypeQuality
all individuals: 273
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variant carriers: 0

GenotypeQuality
all individuals: 462
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variant carriers: 0

GenotypeQuality
all individuals: 410
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GenotypeQuality
all individuals: 3077
bin: 9.75e1
variant carriers: 106

GenotypeQuality
all individuals: 1732
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 278
bin: 9.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 7.175497564107406e-4
allele num: 52958
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 7.49063670411985e-4
allele num: 8010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.378929950358522e-4
allele num: 7252
num of homozygotes: 0

South Asian
type: Population
allele count: 62
allele frequency: 5.020242914979757e-3
allele num: 12350
num of homozygotes: 2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

QD
type: SiteQuality
SIO_000300: 1.079e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

DP
type: SiteQuality
SIO_000300: 1.262128e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.222e0

GenotypeQuality
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
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GenotypeQuality
all individuals: 1109
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variant carriers: 0

GenotypeQuality
all individuals: 32321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
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GenotypeQuality
all individuals: 165
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GenotypeQuality
all individuals: 14807
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variant carriers: 0

GenotypeQuality
all individuals: 1698
bin: 6.75e1
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GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12406
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.373626373626374e-4
allele num: 7280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.264313e6

QD
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.907e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.297e0

VQSLOD
type: SiteQuality
SIO_000300: -2.978e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
all individuals: 986
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14824
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7630
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.879840589518009e-5
allele num: 53196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12410
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.445e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.264137e6

QD
type: SiteQuality
SIO_000300: 1.608e1

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 470
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.30821559392988e-4
allele num: 7644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5320
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7304
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.20666987333654e-4
allele num: 12474
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

FS
type: SiteQuality
SIO_000300: 4.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.111e1

DP
type: SiteQuality
SIO_000300: 1.267771e6

GenotypeQuality
all individuals: 264
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 1.25e1
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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: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 5.75e1
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GenotypeQuality
all individuals: 423
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.873711823121604e-5
allele num: 53370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.687e0

VQSLOD
type: SiteQuality
SIO_000300: -4.404e-1

DP
type: SiteQuality
SIO_000300: 1.263741e6

MQRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 9.18e0

FS
type: SiteQuality
SIO_000300: 8.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1205
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variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7642
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 4.106214070626882e-4
allele num: 7306
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53472
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.26e0

QD
type: SiteQuality
SIO_000300: 6.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.807e-1

DP
type: SiteQuality
SIO_000300: 1.266231e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

GenotypeQuality
all individuals: 925
bin: 3.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 1122
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GenotypeQuality
all individuals: 587
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.960515841426525e-5
allele num: 12562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.619450792342562e-5
allele num: 53386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.369487811558477e-4
allele num: 7302
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.266846e6

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 3.869e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.53e-1

GenotypeQuality
all individuals: 454
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2980
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30738
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GenotypeQuality
all individuals: 891
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.375515818431912e-4
allele num: 7270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.822e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.47e-1

MQ
type: SiteQuality
SIO_000300: 5.781e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 2.225e0

QD
type: SiteQuality
SIO_000300: 7.03e0

DP
type: SiteQuality
SIO_000300: 1.264395e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

GenotypeQuality
all individuals: 1110
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
all individuals: 281
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53302
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.309929263819754e-4
allele num: 7634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12534
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.781e1

FS
type: SiteQuality
SIO_000300: 2.225e0

DP
type: SiteQuality
SIO_000300: 1.264395e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

QD
type: SiteQuality
SIO_000300: 7.03e0

VQSLOD
type: SiteQuality
SIO_000300: -1.822e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.870907390084191e-5
allele num: 53450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

DP
type: SiteQuality
SIO_000300: 1.265281e6

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

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
all individuals: 1847
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7234
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53368
num of homozygotes: 0

African
type: Population
allele count: 0
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South Asian
type: Population
allele count: 1
allele frequency: 7.998720204767237e-5
allele num: 12502
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FS
type: SiteQuality
SIO_000300: 5.008e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.268347e6

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.083e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.06e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 30660
bin: 6.25e1
variant carriers: 3

Other
type: Population
allele count: 1
allele frequency: 1.492537313432836e-3
allele num: 670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 2
allele frequency: 2.802690582959641e-4
allele num: 7136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.151764118708489e-4
allele num: 52094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 7.996801279488205e-4
allele num: 5002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12480
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.588e0

FS
type: SiteQuality
SIO_000300: 1.37433e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.85e0

QD
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.270487e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.823e0

VQSLOD
type: SiteQuality
SIO_000300: -8.988e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.835535976505139e-4
allele num: 5448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52766
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.05e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.255032e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.321e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.805e1

GenotypeQuality
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bin: 4.75e1
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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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.493875112040633e-4
allele num: 6694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11818
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

DP
type: SiteQuality
SIO_000300: 1.1731e6

FS
type: SiteQuality
SIO_000300: 6.041e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

QD
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.432e0

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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.370989854675075e-4
allele num: 7294
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

DP
type: SiteQuality
SIO_000300: 1.135668e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 1.44e1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.041e0

FS
type: SiteQuality
SIO_000300: 4.804e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
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
all individuals: 361
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5030
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.098900176307615e-5
allele num: 47644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: -1.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.802e0

DP
type: SiteQuality
SIO_000300: 1.109929e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

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
all individuals: 546
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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.125976867771178e-4
allele num: 6398
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47378
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.395478649176668e-4
allele num: 7166
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 1.103017e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
all individuals: 330
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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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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.581777918380259e-4
allele num: 6322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46706
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.458e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.576e0

FS
type: SiteQuality
SIO_000300: 1.854e0

DP
type: SiteQuality
SIO_000300: 1.086807e6

QD
type: SiteQuality
SIO_000300: 8.42e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45790
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.299226139294927e-4
allele num: 6978
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.06086e6

MQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.124e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 1.491e1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.70299727520436e-4
allele num: 5872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43604
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6726
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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South Asian
type: Population
allele count: 0
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allele num: 10520
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.3e-3

DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.233000000000001e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.869158878504673e-4
allele num: 5350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.135779241141423e-5
allele num: 31890
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 436
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.034e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 11

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3944
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 2.715751357875679e-3
allele num: 3314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 9.899029895070283e-5
allele num: 30306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

QD
type: SiteQuality
SIO_000300: 1.291e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 7.80135e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3466
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7238
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.692489476404992e-5
allele num: 27082
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3502
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.072e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.77e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.447e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.12e0

VQSLOD
type: SiteQuality
SIO_000300: -2.828e0

DP
type: SiteQuality
SIO_000300: 7.37131e5

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

South Asian
type: Population
allele count: 2
allele frequency: 3.077870113881194e-4
allele num: 6498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22364
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.13e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

DP
type: SiteQuality
SIO_000300: 6.87682e5

BaseQRankSum
type: SiteQuality
SIO_000300: -3.016e0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.771447657219201e-5
allele num: 20958
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6190
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.73308e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.62e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.671e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.805917576611483e-5
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11696
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.771e0

DP
type: SiteQuality
SIO_000300: 1.861686e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.45880561664693e-5
allele num: 11822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60606
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

FS
type: SiteQuality
SIO_000300: 6.982e0

VQSLOD
type: SiteQuality
SIO_000300: -7.56e-2

QD
type: SiteQuality
SIO_000300: 1.085e1

DP
type: SiteQuality
SIO_000300: 1.863969e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

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: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.650056101907465e-5
allele num: 60604
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11830
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

DP
type: SiteQuality
SIO_000300: 1.864719e6

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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East Asian
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allele frequency: 0.0e0
allele num: 8270
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Other
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 8.375209380234506e-5
allele num: 11940
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60672
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

European (Finnish)
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allele frequency: 0.0e0
allele num: 6586
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African
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South Asian
type: Population
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DP
type: SiteQuality
SIO_000300: 1.868602e6

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 1
allele frequency: 1.195886151638364e-4
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60678
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South Asian
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allele frequency: 1.751751751751752e-3
allele num: 11988
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
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DP
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-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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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.648043772042586e-5
allele num: 60678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.868602e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.07e0

QD
type: SiteQuality
SIO_000300: 1.314e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

FS
type: SiteQuality
SIO_000300: 6.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20439
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3704
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 594
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11558
bin: 9.75e1
variant carriers: 46

GenotypeQuality
all individuals: 2050
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 2.884031572556163e-3
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 8.071617258585265e-4
allele num: 13628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.439659098301997e-4
allele num: 61484
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.222493887530562e-3
allele num: 818
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 4.17e0

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

DP
type: SiteQuality
SIO_000300: 1.904674e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.22e1

GenotypeQuality
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4010
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2051
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8306
num of homozygotes: 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: 2
allele frequency: 3.25055259394097e-5
allele num: 61528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.906676e6

GenotypeQuality
all individuals: 21526
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7745
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11550
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.201923076923077e-4
allele num: 8320
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: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14682
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61980
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.841e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.0437e1

VQSLOD
type: SiteQuality
SIO_000300: 6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.0e0

DP
type: SiteQuality
SIO_000300: 1.924711e6

QD
type: SiteQuality
SIO_000300: 1.566e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11550
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7789
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22229
bin: 6.25e1
variant carriers: 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: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.541933795629989e-5
allele num: 15286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.118e1

DP
type: SiteQuality
SIO_000300: 1.935375e6

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

GenotypeQuality
all individuals: 602
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3003
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7482
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.620087336244541e-4
allele num: 11450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63006
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.282e1

FS
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.987e0

DP
type: SiteQuality
SIO_000300: 2.251508e6

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 109
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 107
bin: 4.75e1
variant carriers: 15

GenotypeQuality
all individuals: 15325
bin: 9.75e1
variant carriers: 10522

GenotypeQuality
all individuals: 1596
bin: 9.25e1
variant carriers: 27

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2654
bin: 8.25e1
variant carriers: 23

GenotypeQuality
all individuals: 2036
bin: 2.25e1
variant carriers: 16

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 25

GenotypeQuality
all individuals: 602
bin: 7.5e0
variant carriers: 4

African
type: Population
allele count: 705
allele frequency: 8.152173913043478e-2
allele num: 8648
num of homozygotes: 31

Latino
type: Population
allele count: 1653
allele frequency: 1.443668122270742e-1
allele num: 11450
num of homozygotes: 125

East Asian
type: Population
allele count: 6
allele frequency: 7.183908045977011e-4
allele num: 8352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 376
allele frequency: 5.709079866383237e-2
allele num: 6586
num of homozygotes: 13

Other
type: Population
allele count: 86
allele frequency: 1.004672897196262e-1
allele num: 856
num of homozygotes: 7

South Asian
type: Population
allele count: 1057
allele frequency: 6.675508399646331e-2
allele num: 15834
num of homozygotes: 48

European (Non-Finnish)
type: Population
allele count: 7358
allele frequency: 1.167825286480653e-1
allele num: 63006
num of homozygotes: 420

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

DP
type: SiteQuality
SIO_000300: 2.251508e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.55e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.987e0

QD
type: SiteQuality
SIO_000300: 1.282e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
all individuals: 3231
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5764
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9512
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561085266477255e-5
allele num: 64058
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: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187648456057007e-4
allele num: 8420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.837858e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

QD
type: SiteQuality
SIO_000300: 1.342e1

FS
type: SiteQuality
SIO_000300: 2.514e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.433e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.38e-1

GenotypeQuality
all individuals: 210
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5812
bin: 9.75e1
variant carriers: 63

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

GenotypeQuality
all individuals: 201
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27451
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.112549800796813e-5
allele num: 64256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8944
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

South Asian
type: Population
allele count: 59
allele frequency: 3.581835842642059e-3
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.361e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

DP
type: SiteQuality
SIO_000300: 1.84229e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1893
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9536
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3744
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555064846204087e-5
allele num: 64306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.554e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

ReadPosRankSum
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 36

European (Finnish)
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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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European (Non-Finnish)
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allele frequency: 5.586072060329579e-4
allele num: 64446
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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DP
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.550291454793501e-5
allele num: 64504
num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 64570
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African
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Latino
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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DP
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 1.546168594223514e-5
allele num: 64676
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FS
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65046
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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allele frequency: 1.534260026389273e-5
allele num: 65178
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Other
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East Asian
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South Asian
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Latino
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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MQ
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DP
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

Latino
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European (Finnish)
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South Asian
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Other
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East Asian
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African
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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Other
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QD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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VQSLOD
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4580
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.732201628269531e-4
allele num: 11546
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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: 6614
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: 2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.859721e6

FS
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.634e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

GenotypeQuality
all individuals: 28556
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5713
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4583
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65796
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 1.023e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 1.860009e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.638e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28613
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 2.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.053518752633797e-4
allele num: 9492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515978412467406e-5
allele num: 65964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 1.861167e6

FS
type: SiteQuality
SIO_000300: 4.363e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.211e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 3199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5704
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1877
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66010
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e0

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

DP
type: SiteQuality
SIO_000300: 1.86143e6

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

FS
type: SiteQuality
SIO_000300: 4.425e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

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

GenotypeQuality
all individuals: 1457
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28682
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4561
bin: 7.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9530
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: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

FS
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 1.861137e6

MQRankSum
type: SiteQuality
SIO_000300: -9.16e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.787e0

VQSLOD
type: SiteQuality
SIO_000300: -7.213000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.38e-1

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.033912324234905e-4
allele num: 9672
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.49e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 9.98e0

DP
type: SiteQuality
SIO_000300: 1.858792e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28795
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3659
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.556e0

QD
type: SiteQuality
SIO_000300: 1.27e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

FS
type: SiteQuality
SIO_000300: 1.044e0

VQSLOD
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.857894e6

GenotypeQuality
all individuals: 246
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3150
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 1.856734e6

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 2.665e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.072e0

GenotypeQuality
all individuals: 122
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3145
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.513e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.856226e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.484e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.309e1

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4372
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5692
bin: 9.75e1
variant carriers: 60

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.664793050587634e-4
allele num: 66538
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.052123948286476e-4
allele num: 9746
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.198405822214521e-4
allele num: 11542
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

DP
type: SiteQuality
SIO_000300: 1.850849e6

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3074
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3563
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5634
bin: 9.75e1
variant carriers: 2

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.026061974143238e-4
allele num: 9746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.127e0

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

FS
type: SiteQuality
SIO_000300: 2.971e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

DP
type: SiteQuality
SIO_000300: 1.850197e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
all individuals: 346
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1846
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5635
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 29039
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 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: 896
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 9.710000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

FS
type: SiteQuality
SIO_000300: 4.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.496e0

DP
type: SiteQuality
SIO_000300: 1.84949e6

GenotypeQuality
all individuals: 4328
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3517
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1414
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28874
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3055
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.847326e6

QD
type: SiteQuality
SIO_000300: 1.405e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.46e0

FS
type: SiteQuality
SIO_000300: 7.943e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1