http://identifiers.org/exac.variant/2-43787378-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787378
    reference: chr 2
allele count: 1
allele frequency: 9.321054397673465e-6
allele num: 107284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1556T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2458T>G
  hgvsp: ENSP00000384266.1:p.Phe820Val
  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.2458T>G
  hgvsp: ENSP00000386088.2:p.Phe820Val
  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.1588T>G
  hgvsp: ENSP00000416048.2:p.Phe530Val
  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.399T>G
  hgvsp: ENSP00000386112.1:p.Phe134Val
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*692T>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.2458T>G
  hgvsp: ENSP00000385995.4:p.Phe820Val
  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.*1556T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1207T>G
  hgvsp: ENSP00000385003.1:p.Phe403Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1588T>G
  hgvsp: ENSP00000331105.7:p.Phe530Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2458T>G
  hgvsp: ENSP00000385441.2:p.Phe820Val
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe820Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

2-43787378-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787378
    reference: chr 2
allele count: 2
allele frequency: 1.864210879534693e-5
allele num: 107284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1588T>C
  hgvsp: ENSP00000331105.7:p.Phe530Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1207T>C
  hgvsp: ENSP00000385003.1:p.Phe403Leu
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1556T>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.2458T>C
  hgvsp: ENSP00000385995.4:p.Phe820Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2458T>C
  hgvsp: ENSP00000384266.1:p.Phe820Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2458T>C
  hgvsp: ENSP00000385441.2:p.Phe820Leu
  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.2458T>C
  hgvsp: ENSP00000386088.2:p.Phe820Leu
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*692T>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.399T>C
  hgvsp: ENSP00000386112.1:p.Phe134Leu
  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.*1556T>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.1588T>C
  hgvsp: ENSP00000416048.2:p.Phe530Leu
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe820Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

2-43787390-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787390
    reference: chr 2
allele count: 1
allele frequency: 9.203018590097552e-6
allele num: 108660
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.2446A>G
  hgvsp: ENSP00000385995.4:p.Thr816Ala
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2446A>G
  hgvsp: ENSP00000385441.2:p.Thr816Ala
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1544A>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.1576A>G
  hgvsp: ENSP00000416048.2:p.Thr526Ala
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1576A>G
  hgvsp: ENSP00000331105.7:p.Thr526Ala
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2446A>G
  hgvsp: ENSP00000384266.1:p.Thr816Ala
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1195A>G
  hgvsp: ENSP00000385003.1:p.Thr399Ala
  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.2446A>G
  hgvsp: ENSP00000386088.2:p.Thr816Ala
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*680A>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.*1544A>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.387A>G
  hgvsp: ENSP00000386112.1:p.Thr130Ala
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr816Ala
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD

2-43787396-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787396
    reference: chr 2
allele count: 7
allele frequency: 6.424611769888762e-5
allele num: 108956
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.1570T>C
  hgvsp: ENSP00000416048.2:p.Ser524Pro
  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.2440T>C
  hgvsp: ENSP00000385995.4:p.Ser814Pro
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*674T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1189T>C
  hgvsp: ENSP00000385003.1:p.Ser397Pro
  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.2440T>C
  hgvsp: ENSP00000386088.2:p.Ser814Pro
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1570T>C
  hgvsp: ENSP00000331105.7:p.Ser524Pro
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2440T>C
  hgvsp: ENSP00000385441.2:p.Ser814Pro
  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.*1538T>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1538T>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.381T>C
  hgvsp: ENSP00000386112.1:p.Ser128Pro
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2440T>C
  hgvsp: ENSP00000384266.1:p.Ser814Pro
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30764
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser814Pro
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-43787400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787400
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787400
    reference: chr 2
allele count: 1
allele frequency: 9.169096477233134e-6
allele num: 109062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*670G>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1534G>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.2436G>A
  hgvsp: ENST00000405006.4:c.2436G>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.*1534G>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.2436G>A
  hgvsp: ENST00000405975.2:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1566G>A
  hgvsp: ENST00000330266.7:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2436G>A
  hgvsp: ENST00000404790.1:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2436G>A
  hgvsp: ENST00000402360.2:c.2436G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1185G>A
  hgvsp: ENST00000402796.1:c.1185G>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.1566G>A
  hgvsp: ENST00000415080.2:c.1566G>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.377G>A
  hgvsp: ENST00000407351.1:c.377G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30360
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys812Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-43787402-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787402
    reference: chr 2
allele count: 2
allele frequency: 1.830764160960785e-5
allele num: 109244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2434A>C
  hgvsp: ENSP00000384266.1:p.Lys812Gln
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2434A>C
  hgvsp: ENSP00000385441.2:p.Lys812Gln
  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.2434A>C
  hgvsp: ENSP00000386088.2:p.Lys812Gln
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1183A>C
  hgvsp: ENSP00000385003.1:p.Lys395Gln
  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.1564A>C
  hgvsp: ENSP00000416048.2:p.Lys522Gln
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*668A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1564A>C
  hgvsp: ENSP00000331105.7:p.Lys522Gln
  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.*1532A>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.2434A>C
  hgvsp: ENSP00000385995.4:p.Lys812Gln
  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.375A>C
  hgvsp: ENSP00000386112.1:p.Lys126Gln
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1532A>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys812Gln
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-43787403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787403
    reference: chr 2
allele count: 1
allele frequency: 9.160025648071815e-6
allele num: 109170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1531G>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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*667G>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.374G>A
  hgvsp: ENSP00000386112.1:p.Met125Ile
  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.2433G>A
  hgvsp: ENSP00000385995.4:p.Met811Ile
  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.*1531G>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.1563G>A
  hgvsp: ENSP00000416048.2:p.Met521Ile
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2433G>A
  hgvsp: ENSP00000384266.1:p.Met811Ile
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2433G>A
  hgvsp: ENSP00000385441.2:p.Met811Ile
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1182G>A
  hgvsp: ENSP00000385003.1:p.Met394Ile
  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.2433G>A
  hgvsp: ENSP00000386088.2:p.Met811Ile
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1563G>A
  hgvsp: ENSP00000331105.7:p.Met521Ile
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met811Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-43787412-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787412
    reference: chr 2
allele count: 1
allele frequency: 9.1441111923921e-6
allele num: 109360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2424T>G
  hgvsp: ENSP00000384266.1:p.Asp808Glu
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1522T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1173T>G
  hgvsp: ENSP00000385003.1:p.Asp391Glu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2424T>G
  hgvsp: ENSP00000385441.2:p.Asp808Glu
  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.2424T>G
  hgvsp: ENSP00000385995.4:p.Asp808Glu
  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.2424T>G
  hgvsp: ENSP00000386088.2:p.Asp808Glu
  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.1554T>G
  hgvsp: ENSP00000416048.2:p.Asp518Glu
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*658T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1554T>G
  hgvsp: ENSP00000331105.7:p.Asp518Glu
  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.365T>G
  hgvsp: ENSP00000386112.1:p.Asp122Glu
  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.*1522T>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp808Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/2-43787414-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787414
    reference: chr 2
allele count: 1
allele frequency: 9.153485647334505e-6
allele num: 109248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2422G>T
  hgvsp: ENSP00000384266.1:p.Asp808Tyr
  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.1552G>T
  hgvsp: ENSP00000416048.2:p.Asp518Tyr
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1520G>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.363G>T
  hgvsp: ENSP00000386112.1:p.Asp122Tyr
  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.2422G>T
  hgvsp: ENSP00000385995.4:p.Asp808Tyr
  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.*1520G>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.2422G>T
  hgvsp: ENSP00000386088.2:p.Asp808Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2422G>T
  hgvsp: ENSP00000385441.2:p.Asp808Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1171G>T
  hgvsp: ENSP00000385003.1:p.Asp391Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1552G>T
  hgvsp: ENSP00000331105.7:p.Asp518Tyr
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*656G>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp808Tyr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

2-43787414-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787414
    reference: chr 2
allele count: 1
allele frequency: 9.153485647334505e-6
allele num: 109248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1552G>C
  hgvsp: ENSP00000331105.7:p.Asp518His
  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.363G>C
  hgvsp: ENSP00000386112.1:p.Asp122His
  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.2422G>C
  hgvsp: ENSP00000385995.4:p.Asp808His
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2422G>C
  hgvsp: ENSP00000385441.2:p.Asp808His
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1171G>C
  hgvsp: ENSP00000385003.1:p.Asp391His
  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.*1520G>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.2422G>C
  hgvsp: ENSP00000386088.2:p.Asp808His
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*656G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2422G>C
  hgvsp: ENSP00000384266.1:p.Asp808His
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1520G>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.1552G>C
  hgvsp: ENSP00000416048.2:p.Asp518His
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28886
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp808His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

2-43787414-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787414
    reference: chr 2
allele count: 2
allele frequency: 1.830697129466901e-5
allele num: 109248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*656G>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.2422G>A
  hgvsp: ENSP00000385995.4:p.Asp808Asn
  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.363G>A
  hgvsp: ENSP00000386112.1:p.Asp122Asn
  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.1552G>A
  hgvsp: ENSP00000416048.2:p.Asp518Asn
  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.2422G>A
  hgvsp: ENSP00000386088.2:p.Asp808Asn
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1171G>A
  hgvsp: ENSP00000385003.1:p.Asp391Asn
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1552G>A
  hgvsp: ENSP00000331105.7:p.Asp518Asn
  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.*1520G>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1520G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2422G>A
  hgvsp: ENSP00000384266.1:p.Asp808Asn
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2422G>A
  hgvsp: ENSP00000385441.2:p.Asp808Asn
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4846
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28886
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp808Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-43787415-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787415
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787415
    reference: chr 2
allele count: 3
allele frequency: 2.744789474647294e-5
allele num: 109298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1170T>A
  hgvsp: ENSP00000385003.1:p.Phe390Leu
  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.2421T>A
  hgvsp: ENSP00000385995.4:p.Phe807Leu
  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.362T>A
  hgvsp: ENSP00000386112.1:p.Phe121Leu
  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.*1519T>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.2421T>A
  hgvsp: ENSP00000386088.2:p.Phe807Leu
  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.1551T>A
  hgvsp: ENSP00000416048.2:p.Phe517Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2421T>A
  hgvsp: ENSP00000384266.1:p.Phe807Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1551T>A
  hgvsp: ENSP00000331105.7:p.Phe517Leu
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*655T>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2421T>A
  hgvsp: ENSP00000385441.2:p.Phe807Leu
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1519T>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe807Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-43787420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787420
    reference: chr 2
allele count: 1
allele frequency: 9.1476243619532e-6
allele num: 109318
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.*1514G>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.2416G>A
  hgvsp: ENSP00000386088.2:p.Ala806Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2416G>A
  hgvsp: ENSP00000384266.1:p.Ala806Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2416G>A
  hgvsp: ENSP00000385441.2:p.Ala806Thr
  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.2416G>A
  hgvsp: ENSP00000385995.4:p.Ala806Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1546G>A
  hgvsp: ENSP00000331105.7:p.Ala516Thr
  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.1546G>A
  hgvsp: ENSP00000416048.2:p.Ala516Thr
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*650G>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.357G>A
  hgvsp: ENSP00000386112.1:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1165G>A
  hgvsp: ENSP00000385003.1:p.Ala389Thr
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1514G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5140
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala806Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-43787426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787426
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 109460
alternate allele: C
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.*1508A>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1508A>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.351A>G
  hgvsp: ENSP00000386112.1:p.Ile118Val
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*644A>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.2410A>G
  hgvsp: ENSP00000386088.2:p.Ile804Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1159A>G
  hgvsp: ENSP00000385003.1:p.Ile387Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1540A>G
  hgvsp: ENSP00000331105.7:p.Ile514Val
  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.1540A>G
  hgvsp: ENSP00000416048.2:p.Ile514Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2410A>G
  hgvsp: ENSP00000384266.1:p.Ile804Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2410A>G
  hgvsp: ENSP00000385441.2:p.Ile804Val
  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.2410A>G
  hgvsp: ENSP00000385995.4:p.Ile804Val
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile804Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-43787427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787427
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787427
    reference: chr 2
allele count: 1
allele frequency: 9.131586156515387e-6
allele num: 109510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.350A>G
  hgvsp: ENST00000407351.1:c.350A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1539A>G
  hgvsp: ENST00000330266.7:c.1539A>G(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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*643A>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1507A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2409A>G
  hgvsp: ENST00000402360.2:c.2409A>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.2409A>G
  hgvsp: ENST00000405975.2:c.2409A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2409A>G
  hgvsp: ENST00000404790.1:c.2409A>G(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.2409A>G
  hgvsp: ENST00000405006.4:c.2409A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1158A>G
  hgvsp: ENST00000402796.1:c.1158A>G(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.*1507A>G
  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.1539A>G
  hgvsp: ENST00000415080.2:c.1539A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys803Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-43787432-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787432
    reference: chr 2
allele count: 1
allele frequency: 9.134088417975885e-6
allele num: 109480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.345G>C
  hgvsp: ENSP00000386112.1:p.Val116Leu
  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.2404G>C
  hgvsp: ENSP00000385995.4:p.Val802Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2404G>C
  hgvsp: ENSP00000385441.2:p.Val802Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2404G>C
  hgvsp: ENSP00000384266.1:p.Val802Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1534G>C
  hgvsp: ENSP00000331105.7:p.Val512Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1153G>C
  hgvsp: ENSP00000385003.1:p.Val385Leu
  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.*1502G>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1502G>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.2404G>C
  hgvsp: ENSP00000386088.2:p.Val802Leu
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*638G>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.1534G>C
  hgvsp: ENSP00000416048.2:p.Val512Leu
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val802Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-43787432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787432
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787432
    reference: chr 2
allele count: 1
allele frequency: 9.134088417975885e-6
allele num: 109480
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1534G>A
  hgvsp: ENSP00000331105.7:p.Val512Met
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1502G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1153G>A
  hgvsp: ENSP00000385003.1:p.Val385Met
  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.2404G>A
  hgvsp: ENSP00000386088.2:p.Val802Met
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*638G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2404G>A
  hgvsp: ENSP00000385441.2:p.Val802Met
  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.1534G>A
  hgvsp: ENSP00000416048.2:p.Val512Met
  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.2404G>A
  hgvsp: ENSP00000385995.4:p.Val802Met
  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.345G>A
  hgvsp: ENSP00000386112.1:p.Val116Met
  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.*1502G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2404G>A
  hgvsp: ENSP00000384266.1:p.Val802Met
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val802Met
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

2-43787433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787433
    reference: chr 2
allele count: 14
allele frequency: 1.277931940996057e-4
allele num: 109552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1152C>T
  hgvsp: ENST00000402796.1:c.1152C>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.2403C>T
  hgvsp: ENST00000405006.4:c.2403C>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.344C>T
  hgvsp: ENST00000407351.1:c.344C>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.2403C>T
  hgvsp: ENST00000405975.2:c.2403C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2403C>T
  hgvsp: ENST00000402360.2:c.2403C>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.*1501C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1533C>T
  hgvsp: ENST00000330266.7:c.1533C>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1501C>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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*637C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2403C>T
  hgvsp: ENST00000404790.1:c.2403C>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.1533C>T
  hgvsp: ENST00000415080.2:c.1533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28271
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp801Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-43787433-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787433
    reference: chr 2
allele count: 1
allele frequency: 9.128085292828975e-6
allele num: 109552
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.2403C>G
  hgvsp: ENSP00000386088.2:p.Asp801Glu
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*637C>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.344C>G
  hgvsp: ENSP00000386112.1:p.Asp115Glu
  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.1533C>G
  hgvsp: ENSP00000416048.2:p.Asp511Glu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1533C>G
  hgvsp: ENSP00000331105.7:p.Asp511Glu
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1501C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2403C>G
  hgvsp: ENSP00000385441.2:p.Asp801Glu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2403C>G
  hgvsp: ENSP00000384266.1:p.Asp801Glu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1152C>G
  hgvsp: ENSP00000385003.1:p.Asp384Glu
  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.*1501C>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.2403C>G
  hgvsp: ENSP00000385995.4:p.Asp801Glu
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp801Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-43787434-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787434
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787434
    reference: chr 2
allele count: 1
allele frequency: 9.106638739641198e-6
allele num: 109810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1500A>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.343A>T
  hgvsp: ENSP00000386112.1:p.Asp115Val
  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.2402A>T
  hgvsp: ENSP00000385995.4:p.Asp801Val
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*636A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2402A>T
  hgvsp: ENSP00000384266.1:p.Asp801Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2402A>T
  hgvsp: ENSP00000385441.2:p.Asp801Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1151A>T
  hgvsp: ENSP00000385003.1:p.Asp384Val
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1532A>T
  hgvsp: ENSP00000331105.7:p.Asp511Val
  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.2402A>T
  hgvsp: ENSP00000386088.2:p.Asp801Val
  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.*1500A>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.1532A>T
  hgvsp: ENSP00000416048.2:p.Asp511Val
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp801Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-43787438-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787438
    reference: chr 2
allele count: 1
allele frequency: 9.099512266142535e-6
allele num: 109896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1147G>T
  hgvsp: ENSP00000385003.1:p.Glu383Ter
  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.2398G>T
  hgvsp: ENSP00000385995.4:p.Glu800Ter
  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.*1496G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2398G>T
  hgvsp: ENSP00000384266.1:p.Glu800Ter
  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.2398G>T
  hgvsp: ENSP00000386088.2:p.Glu800Ter
  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.339G>T
  hgvsp: ENSP00000386112.1:p.Glu114Ter
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*632G>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2398G>T
  hgvsp: ENSP00000385441.2:p.Glu800Ter
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1528G>T
  hgvsp: ENSP00000331105.7:p.Glu510Ter
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1496G>T
  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.1528G>T
  hgvsp: ENSP00000416048.2:p.Glu510Ter
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu800Ter
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: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-43787445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787445
    reference: chr 2
allele count: 1
allele frequency: 9.075727873375444e-6
allele num: 110184
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.2391C>T
  hgvsp: ENST00000405006.4:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1140C>T
  hgvsp: ENST00000402796.1:c.1140C>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.1521C>T
  hgvsp: ENST00000415080.2:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1521C>T
  hgvsp: ENST00000330266.7:c.1521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2391C>T
  hgvsp: ENST00000404790.1:c.2391C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2391C>T
  hgvsp: ENST00000402360.2:c.2391C>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.*1489C>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.2391C>T
  hgvsp: ENST00000405975.2:c.2391C>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.332C>T
  hgvsp: ENST00000407351.1:c.332C>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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*625C>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1489C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser797Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-43787446-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787446
    reference: chr 2
allele count: 13
allele frequency: 1.179737553768808e-4
allele num: 110194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*624G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1520G>A
  hgvsp: ENSP00000331105.7:p.Ser507Asn
  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.2390G>A
  hgvsp: ENSP00000386088.2:p.Ser797Asn
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1488G>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.*1488G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2390G>A
  hgvsp: ENSP00000384266.1:p.Ser797Asn
  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.2390G>A
  hgvsp: ENSP00000385995.4:p.Ser797Asn
  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.331G>A
  hgvsp: ENSP00000386112.1:p.Ser111Asn
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1139G>A
  hgvsp: ENSP00000385003.1:p.Ser380Asn
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2390G>A
  hgvsp: ENSP00000385441.2:p.Ser797Asn
  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.1520G>A
  hgvsp: ENSP00000416048.2:p.Ser507Asn
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30065
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12887
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser797Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-43787458-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787458
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787458
    reference: chr 2
allele count: 1
allele frequency: 9.041427822281694e-6
allele num: 110602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1127A>G
  hgvsp: ENSP00000385003.1:p.Glu376Gly
  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.2378A>G
  hgvsp: ENSP00000386088.2:p.Glu793Gly
  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.319A>G
  hgvsp: ENSP00000386112.1:p.Glu107Gly
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1476A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1508A>G
  hgvsp: ENSP00000331105.7:p.Glu503Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2378A>G
  hgvsp: ENSP00000385441.2:p.Glu793Gly
  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.1508A>G
  hgvsp: ENSP00000416048.2:p.Glu503Gly
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*612A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2378A>G
  hgvsp: ENSP00000384266.1:p.Glu793Gly
  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.2378A>G
  hgvsp: ENSP00000385995.4:p.Glu793Gly
  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.*1476A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu793Gly
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

2-43787463-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787463
    reference: chr 2
allele count: 1
allele frequency: 9.042081848924896e-6
allele num: 110594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.314A>G
  hgvsp: ENST00000407351.1:c.314A>G(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.*1471A>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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*607A>G
  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.2373A>G
  hgvsp: ENST00000405975.2:c.2373A>G(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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1471A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1122A>G
  hgvsp: ENST00000402796.1:c.1122A>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.1503A>G
  hgvsp: ENST00000415080.2:c.1503A>G(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.2373A>G
  hgvsp: ENST00000405006.4:c.2373A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2373A>G
  hgvsp: ENST00000404790.1:c.2373A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1503A>G
  hgvsp: ENST00000330266.7:c.1503A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2373A>G
  hgvsp: ENST00000402360.2:c.2373A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32225
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu791Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-43787476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787476
    reference: chr 2
allele count: 4
allele frequency: 3.642124815617431e-5
allele num: 109826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2360G>A
  hgvsp: ENSP00000385441.2:p.Arg787His
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1490G>A
  hgvsp: ENSP00000331105.7:p.Arg497His
  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.2360G>A
  hgvsp: ENSP00000385995.4:p.Arg787His
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1109G>A
  hgvsp: ENSP00000385003.1:p.Arg370His
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1458G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2360G>A
  hgvsp: ENSP00000384266.1:p.Arg787His
  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.2360G>A
  hgvsp: ENSP00000386088.2:p.Arg787His
  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.1490G>A
  hgvsp: ENSP00000416048.2:p.Arg497His
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*594G>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.301G>A
  hgvsp: ENSP00000386112.1:p.Arg101His
  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.*1458G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg787His
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-43787483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787483
    reference: chr 2
allele count: 1
allele frequency: 9.189487226612755e-6
allele num: 108820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1483G>A
  hgvsp: ENSP00000331105.7:p.Val495Ile
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1102G>A
  hgvsp: ENSP00000385003.1:p.Val368Ile
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2353G>A
  hgvsp: ENSP00000384266.1:p.Val785Ile
  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.1483G>A
  hgvsp: ENSP00000416048.2:p.Val495Ile
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2353G>A
  hgvsp: ENSP00000385441.2:p.Val785Ile
  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.2353G>A
  hgvsp: ENSP00000385995.4:p.Val785Ile
  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.*1451G>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.294G>A
  hgvsp: ENSP00000386112.1:p.Val99Ile
  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.2353G>A
  hgvsp: ENSP00000386088.2:p.Val785Ile
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*587G>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1451G>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val785Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-43787488-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787488
    reference: chr 2
allele count: 3
allele frequency: 2.768293808249515e-5
allele num: 108370
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.2348T>C
  hgvsp: ENSP00000385995.4:p.Ile783Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1478T>C
  hgvsp: ENSP00000331105.7:p.Ile493Thr
  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.*1446T>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.289T>C
  hgvsp: ENSP00000386112.1:p.Ile97Thr
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*582T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1097T>C
  hgvsp: ENSP00000385003.1:p.Ile366Thr
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1446T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2348T>C
  hgvsp: ENSP00000385441.2:p.Ile783Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2348T>C
  hgvsp: ENSP00000384266.1:p.Ile783Thr
  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.2348T>C
  hgvsp: ENSP00000386088.2:p.Ile783Thr
  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.1478T>C
  hgvsp: ENSP00000416048.2:p.Ile493Thr
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13701
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile783Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

2-43787495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787495
    reference: chr 2
allele count: 1
allele frequency: 9.437523593808985e-6
allele num: 105960
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.*1439C>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1439C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1471C>T
  hgvsp: ENSP00000331105.7:p.His491Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2341C>T
  hgvsp: ENSP00000384266.1:p.His781Tyr
  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.2341C>T
  hgvsp: ENSP00000386088.2:p.His781Tyr
  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.1471C>T
  hgvsp: ENSP00000416048.2:p.His491Tyr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2341C>T
  hgvsp: ENSP00000385441.2:p.His781Tyr
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*575C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1090C>T
  hgvsp: ENSP00000385003.1:p.His364Tyr
  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.282C>T
  hgvsp: ENSP00000386112.1:p.His95Tyr
  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.2341C>T
  hgvsp: ENSP00000385995.4:p.His781Tyr
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His781Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ

2-43787501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787501
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787501
    reference: chr 2
allele count: 1
allele frequency: 9.66239588768431e-6
allele num: 103494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2335C>T
  hgvsp: ENST00000402360.2:c.2335C>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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*569C>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1433C>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.276C>T
  hgvsp: ENST00000407351.1:c.276C>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.2335C>T
  hgvsp: ENST00000405006.4:c.2335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1084C>T
  hgvsp: ENST00000402796.1:c.1084C>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.*1433C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1465C>T
  hgvsp: ENST00000330266.7:c.1465C>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.2335C>T
  hgvsp: ENST00000405975.2:c.2335C>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.1465C>T
  hgvsp: ENST00000415080.2:c.1465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2335C>T
  hgvsp: ENST00000404790.1:c.2335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu779Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

2-43787502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787502
    reference: chr 2
allele count: 1
allele frequency: 9.778420980580055e-6
allele num: 102266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.2334G>A
  hgvsp: ENST00000405975.2:c.2334G>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.*1432G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2334G>A
  hgvsp: ENST00000404790.1:c.2334G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1083G>A
  hgvsp: ENST00000402796.1:c.1083G>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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*568G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2334G>A
  hgvsp: ENST00000402360.2:c.2334G>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1432G>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1464G>A
  hgvsp: ENST00000330266.7:c.1464G>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.1464G>A
  hgvsp: ENST00000415080.2:c.1464G>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.2334G>A
  hgvsp: ENST00000405006.4:c.2334G>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.275G>A
  hgvsp: ENST00000407351.1:c.275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln778Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

2-43787508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787508
    reference: chr 2
allele count: 1
allele frequency: 1.011204141892165e-5
allele num: 98892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1458A>G
  hgvsp: ENST00000330266.7:c.1458A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2328A>G
  hgvsp: ENST00000404790.1:c.2328A>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.2328A>G
  hgvsp: ENST00000405975.2:c.2328A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1077A>G
  hgvsp: ENST00000402796.1:c.1077A>G(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.2328A>G
  hgvsp: ENST00000405006.4:c.2328A>G(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.269A>G
  hgvsp: ENST00000407351.1:c.269A>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.1458A>G
  hgvsp: ENST00000415080.2:c.1458A>G(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.*1426A>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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1426A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2328A>G
  hgvsp: ENST00000402360.2:c.2328A>G(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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*562A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21484
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val776Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-43787508-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787508
    reference: chr 2
allele count: 1
allele frequency: 1.011204141892165e-5
allele num: 98892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1426A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1077A>C
  hgvsp: ENST00000402796.1:c.1077A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2328A>C
  hgvsp: ENST00000404790.1:c.2328A>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.*1426A>C
  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.269A>C
  hgvsp: ENST00000407351.1:c.269A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1458A>C
  hgvsp: ENST00000330266.7:c.1458A>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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*562A>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.2328A>C
  hgvsp: ENST00000405006.4:c.2328A>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.2328A>C
  hgvsp: ENST00000405975.2:c.2328A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2328A>C
  hgvsp: ENST00000402360.2:c.2328A>C(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.1458A>C
  hgvsp: ENST00000415080.2:c.1458A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val776Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-43787511-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787511
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787511
    reference: chr 2
allele count: 1
allele frequency: 1.035582618781326e-5
allele num: 96564
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1074A>G
  hgvsp: ENST00000402796.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2325A>G
  hgvsp: ENST00000404790.1:c.2325A>G(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.2325A>G
  hgvsp: ENST00000405006.4:c.2325A>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.2325A>G
  hgvsp: ENST00000405975.2:c.2325A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1455A>G
  hgvsp: ENST00000330266.7:c.1455A>G(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.266A>G
  hgvsp: ENST00000407351.1:c.266A>G(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.*1423A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2325A>G
  hgvsp: ENST00000402360.2:c.2325A>G(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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1423A>G
  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.1455A>G
  hgvsp: ENST00000415080.2:c.1455A>G(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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*559A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19582
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr775Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

2-43787515-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787515
    reference: chr 2
allele count: 1
allele frequency: 1.07513009074098e-5
allele num: 93012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2321A>G
  hgvsp: ENSP00000385441.2:p.Tyr774Cys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1070A>G
  hgvsp: ENSP00000385003.1:p.Tyr357Cys
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1419A>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.*1419A>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.2321A>G
  hgvsp: ENSP00000386088.2:p.Tyr774Cys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2321A>G
  hgvsp: ENSP00000384266.1:p.Tyr774Cys
  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.1451A>G
  hgvsp: ENSP00000416048.2:p.Tyr484Cys
  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.262A>G
  hgvsp: ENSP00000386112.1:p.Tyr88Cys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1451A>G
  hgvsp: ENSP00000331105.7:p.Tyr484Cys
  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.2321A>G
  hgvsp: ENSP00000385995.4:p.Tyr774Cys
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*555A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr774Cys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-43787522-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787522
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787522
    reference: chr 2
allele count: 2
allele frequency: 2.361219333663904e-5
allele num: 84702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.2314A>G
  hgvsp: ENSP00000386088.2:p.Arg772Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1412A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1063A>G
  hgvsp: ENSP00000385003.1:p.Arg355Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.1444A>G
  hgvsp: ENSP00000416048.2:p.Arg482Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2314A>G
  hgvsp: ENSP00000385441.2:p.Arg772Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-2A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2314A>G
  hgvsp: ENSP00000384266.1:p.Arg772Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.2314A>G
  hgvsp: ENSP00000385995.4:p.Arg772Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*1412A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1444A>G
  hgvsp: ENSP00000331105.7:p.Arg482Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.255A>G
  hgvsp: ENSP00000386112.1:p.Arg86Gly
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.*550-2A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-43787523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787523
    reference: chr 2
allele count: 1
allele frequency: 1.182340561375299e-5
allele num: 84578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2313C>T
  hgvsp: ENST00000402360.2:c.2313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000381647
  ensembl transcript: ENST00000398653
  gene symbol: THADA
  hgvsc: ENST00000398653.1:c.*1411C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.254C>T
  hgvsp: ENST00000407351.1:c.254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.1443C>T
  hgvsp: ENST00000415080.2:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1062C>T
  hgvsp: ENST00000402796.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2313C>T
  hgvsp: ENST00000404790.1:c.2313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.2313C>T
  hgvsp: ENST00000405006.4:c.2313C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1411C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.2313C>T
  hgvsp: ENST00000405975.2:c.2313C>T(p.%3D)
  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: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-3C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1443C>T
  hgvsp: ENST00000330266.7:c.1443C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2313C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-43787531-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787531
    reference: chr 2
allele count: 2
allele frequency: 2.655407737858148e-5
allele num: 75318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-7T>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000331105
  ensembl transcript: ENST00000330266
  gene symbol: THADA
  hgvsc: ENST00000330266.7:c.1442-7T>A
  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.*1410-7T>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-11T>A
  variant of: http://identifiers.org/hgnc/19217
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.1442-7T>A
  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.2312-7T>A
  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: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-7T>A
  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: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-7T>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-7T>A
  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.253-7T>A
  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.2312-7T>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2312-7T>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-43787535-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787535
    reference: chr 2
allele count: 1
allele frequency: 1.380338458990144e-5
allele num: 72446
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.2312-11A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-11A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-11A>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.253-11A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-11A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-11A>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.1442-11A>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.2312-11A>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.1442-11A>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.*1410-11A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-15A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-43787537-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787537
    reference: chr 2
allele count: 2
allele frequency: 2.834949254408346e-5
allele num: 70548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-13A>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.1442-13A>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.253-13A>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.*1410-13A>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.1442-13A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-13A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-13A>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.2312-13A>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.2312-13A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-13A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-17A>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-43787537-TAAAAAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787531
    reference: chr 2
allele count: 2
allele frequency: 2.834949254408346e-5
allele num: 70548
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.1442-19_1442-14delGTTTTT
  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.*1410-19_*1410-14delGTTTTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-19_*1410-14delGTTTTT
  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.253-19_253-14delGTTTTT
  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.2312-19_2312-14delGTTTTT
  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.2312-19_2312-14delGTTTTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-23_*550-18delGTTTTT
  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.1442-19_1442-14delGTTTTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-19_1061-14delGTTTTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-19_2312-14delGTTTTT
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-19_2312-14delGTTTTT
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19785
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22733
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: TAAAAAC
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-43787538-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787538
    reference: chr 2
allele count: 3
allele frequency: 4.34883451235069e-5
allele num: 68984
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-14T>C
  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.2312-14T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-14T>C
  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.253-14T>C
  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.*1410-14T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-14T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-14T>C
  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.2312-14T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-18T>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.1442-14T>C
  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.1442-14T>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22903
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19957
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-43787543-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787543
    reference: chr 2
allele count: 1
allele frequency: 1.539219307966999e-5
allele num: 64968
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-19G>C
  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.1442-19G>C
  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.2312-19G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-23G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-19G>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.1442-19G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-19G>C
  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.2312-19G>C
  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.253-19G>C
  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.*1410-19G>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-19G>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

2-43787545-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787545
    reference: chr 2
allele count: 1
allele frequency: 1.712563364844499e-5
allele num: 58392
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.1442-21T>C
  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.2312-21T>C
  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.*1410-21T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-25T>C
  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.253-21T>C
  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.1442-21T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-21T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-21T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-21T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-21T>C
  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.2312-21T>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

2-43787552-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787552
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 55444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.253-28A>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.2312-28A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-28A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-28A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-28A>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.1442-28A>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.2312-28A>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.*1410-28A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-28A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-32A>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.1442-28A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21895
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

2-43787558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787558
    reference: chr 2
allele count: 1
allele frequency: 2.058206067591487e-5
allele num: 48586
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.253-34C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-34C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-38C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-34C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-34C>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.1442-34C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-34C>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.1442-34C>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.*1410-34C>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.2312-34C>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.2312-34C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

2-43787558-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787558
    reference: chr 2
allele count: 2
allele frequency: 4.116412135182974e-5
allele num: 48586
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.1442-34C>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.2312-34C>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.2312-34C>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.1442-34C>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.*1410-34C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-34C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-34C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-34C>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.253-34C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-34C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-38C>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-43787560-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787560
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787560
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 44880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-36C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-36C>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.1442-36C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-40C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-36C>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.1442-36C>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.253-36C>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.*1410-36C>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.2312-36C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-36C>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.2312-36C>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25224
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-43787562-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787562
    reference: chr 2
allele count: 1
allele frequency: 2.260295646670585e-5
allele num: 44242
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.1442-38T>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.253-38T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-38T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-38T>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.2312-38T>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.1442-38T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-38T>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.*1410-38T>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.2312-38T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-38T>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-42T>G
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15171
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

2-43787569-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787569
    reference: chr 2
allele count: 3
allele frequency: 7.628540914407771e-5
allele num: 39326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-45C>A
  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.2312-45C>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.2312-45C>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.1442-45C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-45C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-45C>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.*1410-45C>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.253-45C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-45C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-49C>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.1442-45C>A
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13090
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27694
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

2-43787573-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43787573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43787573
    reference: chr 2
allele count: 1
allele frequency: 2.712526447132859e-5
allele num: 36866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1410-49A>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.1442-49A>C
  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.253-49A>C
  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.2312-49A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2312-49A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*550-53A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1061-49A>C
  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.*1410-49A>C
  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.1442-49A>C
  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.2312-49A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2312-49A>C
  variant of: http://identifiers.org/hgnc/19217
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-43793485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793485
    reference: chr 2
allele count: 5
allele frequency: 9.279881217520415e-4
allele num: 5388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.252+352A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.*50A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+352A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+348A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+352A>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.2311+352A>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.1441+352A>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.1441+352A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+352A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+352A>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.2311+352A>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.*1409+352A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-43793526-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793526
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793526
    reference: chr 2
allele count: 3
allele frequency: 3.850102669404518e-4
allele num: 7792
alternate allele: C
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.*1409+311C>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.2311+311C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+311C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+311C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+311C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+311C>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.2311+311C>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.1441+311C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.*9C>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.1441+311C>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.252+311C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+307C>G
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS

2-43793536-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793536
    reference: chr 2
allele count: 1
allele frequency: 1.087665869045029e-4
allele num: 9194
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.2311+301A>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.*1409+301A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2612A>G
  hgvsp: ENSP00000385469.1:p.Ter871TrpextTer11
  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.252+301A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+301A>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.1441+301A>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.1441+301A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+301A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+301A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+301A>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.2311+301A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+297A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ter871TrpextTer11
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-43793576-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793576
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793576
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 15520
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385995
  ensembl transcript: ENST00000405006
  gene symbol: THADA
  hgvsc: ENST00000405006.4:c.2311+261A>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.1441+261A>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.2311+261A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+257A>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.252+261A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2572A>G
  hgvsp: ENSP00000385469.1:p.Ser858Gly
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+261A>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.*1409+261A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+261A>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.1441+261A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+261A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+261A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser858Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

2-43793625-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793625
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793625
    reference: chr 2
allele count: 1
allele frequency: 5.938947618482005e-5
allele num: 16838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.252+212A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+212A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2523A>C
  hgvsp: ENSP00000385469.1:p.Gln841His
  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.1441+212A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+212A>C
  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.2311+212A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+212A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+208A>C
  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.2311+212A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+212A>C
  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.1441+212A>C
  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.*1409+212A>C
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln841His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-43793642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793642
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793642
    reference: chr 2
allele count: 1
allele frequency: 5.834305717619604e-5
allele num: 17140
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2506T>C
  hgvsp: ENST00000403856.1:c.2506T>C(p.%3D)
  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.2311+195T>C
  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.*1409+195T>C
  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.2311+195T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+191T>C
  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.252+195T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+195T>C
  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.1441+195T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+195T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+195T>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.1441+195T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+195T>C
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu836Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD

2-43793644-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793644
    reference: chr 2
allele count: 4
allele frequency: 2.325040688212044e-4
allele num: 17204
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.252+193C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+193C>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.2311+193C>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.1441+193C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+193C>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.*1409+193C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+189C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+193C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+193C>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.1441+193C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2504C>T
  hgvsp: ENSP00000385469.1:p.Ser835Leu
  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.2311+193C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ser835Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-43793668-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793668
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 17938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+169A>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.1441+169A>C
  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.252+169A>C
  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.2311+169A>C
  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.1441+169A>C
  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.*1409+169A>C
  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.2311+169A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2480A>C
  hgvsp: ENSP00000385469.1:p.Lys827Thr
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+169A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+165A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+169A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+169A>C
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28475
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys827Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

2-43793686-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793686
    reference: chr 2
allele count: 1
allele frequency: 5.341880341880342e-5
allele num: 18720
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386088
  ensembl transcript: ENST00000405975
  gene symbol: THADA
  hgvsc: ENST00000405975.2:c.2311+151T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+151T>C
  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.252+151T>C
  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.2311+151T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+151T>C
  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.*1409+151T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2462T>C
  hgvsp: ENSP00000385469.1:p.Phe821Ser
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+147T>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.1441+151T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+151T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+151T>C
  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.1441+151T>C
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe821Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

2-43793694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793694
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 19176
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.2311+143A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+143A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2454A>G
  hgvsp: ENSP00000385469.1:p.Ile818Met
  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.*1409+143A>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.2311+143A>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.1441+143A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+143A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+143A>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.1441+143A>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.252+143A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+143A>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+139A>G
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile818Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-43793696-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793696
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793696
    reference: chr 2
allele count: 1
allele frequency: 5.189413596263622e-5
allele num: 19270
alternate allele: G
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.*1409+141A>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.1441+141A>C
  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.2311+141A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+141A>C
  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.1441+141A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+141A>C
  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.2311+141A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+141A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2452A>C
  hgvsp: ENSP00000385469.1:p.Ile818Leu
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+141A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+137A>C
  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.252+141A>C
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile818Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-43793701-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793701
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793701
    reference: chr 2
allele count: 1
allele frequency: 5.077688636132832e-5
allele num: 19694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000386112
  ensembl transcript: ENST00000407351
  gene symbol: THADA
  hgvsc: ENST00000407351.1:c.252+136T>C
  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.1441+136T>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.1441+136T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+136T>C
  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.2311+136T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2447T>C
  hgvsp: ENSP00000385469.1:p.Leu816Ser
  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.*1409+136T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+136T>C
  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.2311+136T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+136T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+136T>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+132T>C
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33331
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu816Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

2-43793707-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793707
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793707
    reference: chr 2
allele count: 1
allele frequency: 4.951475539710834e-5
allele num: 20196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+130C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+130C>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.1441+130C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+130C>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.1441+130C>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.252+130C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2441C>G
  hgvsp: ENSP00000385469.1:p.Ser814Cys
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+126C>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.2311+130C>G
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+130C>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.2311+130C>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.*1409+130C>G
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser814Cys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

2-43793718-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793718
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793718
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 21738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+119A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+119A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2430A>T
  hgvsp: ENSP00000385469.1:p.Leu810Phe
  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.2311+119A>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.*1409+119A>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.252+119A>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.1441+119A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+119A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+115A>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+119A>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.2311+119A>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.1441+119A>T
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27173
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18876
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu810Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-43793718-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793718
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793718
    reference: chr 2
allele count: 1
allele frequency: 4.600239212439047e-5
allele num: 21738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000416048
  ensembl transcript: ENST00000415080
  gene symbol: THADA
  hgvsc: ENST00000415080.2:c.1441+119A>C
  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.2311+119A>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.1441+119A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+119A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+115A>C
  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.*1409+119A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+119A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+119A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2430A>C
  hgvsp: ENSP00000385469.1:p.Leu810Phe
  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.252+119A>C
  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.2311+119A>C
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+119A>C
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu810Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-43793721-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793721
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 22592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+116C>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.1441+116C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2427C>A
  hgvsp: ENSP00000385469.1:p.Phe809Leu
  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.*1409+116C>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.1441+116C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+116C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+116C>A
  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.2311+116C>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.252+116C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+116C>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.2311+116C>A
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+112C>A
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25555
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe809Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-43793725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43793725
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 43793725
    reference: chr 2
allele count: 13130
allele frequency: 4.119861939127706e-1
allele num: 31870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000445294
  ensembl transcript: ENST00000474159
  gene symbol: THADA
  hgvsc: ENST00000474159.2:c.*549+108C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384266
  ensembl transcript: ENST00000404790
  gene symbol: THADA
  hgvsc: ENST00000404790.1:c.2311+112C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000384172
  ensembl transcript: ENST00000408045
  gene symbol: THADA
  hgvsc: ENST00000408045.3:c.*1409+112C>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.2311+112C>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.2311+112C>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.1441+112C>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.*1409+112C>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.252+112C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385003
  ensembl transcript: ENST00000402796
  gene symbol: THADA
  hgvsc: ENST00000402796.1:c.1060+112C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385441
  ensembl transcript: ENST00000402360
  gene symbol: THADA
  hgvsc: ENST00000402360.2:c.2311+112C>T
  variant of: http://identifiers.org/hgnc/19217
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115970
  ensembl protein: ENSP00000385469
  ensembl transcript: ENST00000403856
  gene symbol: THADA
  hgvsc: ENST00000403856.1:c.2423C>T
  hgvsp: ENSP00000385469.1:p.Ser808Leu
  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.1441+112C>T
  variant of: http://identifiers.org/hgnc/19217
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 8.25e1
  variant carriers: 327
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 873
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.75e1
  variant carriers: 380
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 5.75e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 324
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 376
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 450
hgvs: p.Ser808Leu
num of homozygotes: 2259
reference allele: G

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7810
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 693
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.678190239645566e-5
allele num: 59588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.290807e6

FS
type: SiteQuality
SIO_000300: 3.918e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

GenotypeDepth
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7810
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7900
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.356380479291133e-5
allele num: 59588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14224
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.225e1

FS
type: SiteQuality
SIO_000300: 3.918e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.290807e6

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2066
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1002
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1341
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 176
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37909
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1682
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.149954001839926e-4
allele num: 8696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.309374e6

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.429e1

GenotypeDepth
all individuals: 110
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 85
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37768
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1444
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2052
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

Latino
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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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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.157254331437641e-4
allele num: 60488
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South Asian
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: -6.2e-2

MQ
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SIO_000300: 6.0e1

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

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

Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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FS
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SIO_000300: 3.396e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

Latino
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allele num: 10074
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East Asian
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European (Non-Finnish)
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Other
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num of homozygotes: 0

South Asian
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VQSLOD
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MQ
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BaseQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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ReadPosRankSum
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SIO_000300: 1.77e0

MQRankSum
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SIO_000300: 7.3e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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African
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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Latino
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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ReadPosRankSum
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VQSLOD
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FS
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DP
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 60682
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Latino
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East Asian
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African
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European (Finnish)
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Other
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South Asian
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MQ
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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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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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Latino
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allele frequency: 1.977456990310461e-4
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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FS
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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South Asian
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allele frequency: 2.036936447582835e-4
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European (Non-Finnish)
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QD
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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SIO_000300: 1.1e-3

ReadPosRankSum
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SIO_000300: 2.19e0

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

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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African
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Latino
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East Asian
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South Asian
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Other
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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DP
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ReadPosRankSum
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SIO_000300: 4.73e-1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

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

Latino
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BaseQRankSum
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SIO_000300: 2.22e0

DP
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SIO_000300: 1.318141e6

MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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SIO_000300: -8.76e-1

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

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

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

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

South Asian
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allele count: 2
allele frequency: 1.36035913481159e-4
allele num: 14702
num of homozygotes: 0

East Asian
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allele frequency: 2.485089463220676e-4
allele num: 8048
num of homozygotes: 0

Latino
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allele count: 9
allele frequency: 8.853039543576628e-4
allele num: 10166
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.641766540797899e-5
allele num: 60910
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

QD
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SIO_000300: 1.393e1

MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.329087e6

MQRankSum
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SIO_000300: 4.17e-1

ClippingRankSum
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SIO_000300: -2.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1941
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.641766540797899e-5
allele num: 60910
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
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SIO_000300: 2.79e-1

InbreedingCoeff
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SIO_000300: 2.2e-3

MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 2.05e0

ClippingRankSum
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SIO_000300: -2.9e-1

DP
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MQRankSum
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SIO_000300: 4.17e-1

QD
type: SiteQuality
SIO_000300: 1.393e1

ReadPosRankSum
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SIO_000300: 1.32e-1

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61066
num of homozygotes: 0

South Asian
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allele num: 14734
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
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SIO_000300: 1.05e0

DP
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SIO_000300: 1.33022e6

InbreedingCoeff
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.1e0

ReadPosRankSum
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SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 1.21e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 936
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.63569746139754e-5
allele num: 61136
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -4.341e0

InbreedingCoeff
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SIO_000300: 3.0e-4

MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 1.2e0

FS
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SIO_000300: 1.331e0

VQSLOD
type: SiteQuality
SIO_000300: -4.12e-2

ReadPosRankSum
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SIO_000300: -1.394e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.339537e6

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.231527093596059e-4
allele num: 8120
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.303e0

FS
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
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SIO_000300: 5.884e1

VQSLOD
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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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ReadPosRankSum
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SIO_000300: 7.72e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.260408855270451e-5
allele num: 61342
num of homozygotes: 0

African
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South Asian
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allele count: 3
allele frequency: 2.036383383111594e-4
allele num: 14732
num of homozygotes: 0

European (Finnish)
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allele count: 8
allele frequency: 1.265822784810127e-3
allele num: 6320
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.472e0

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.3e-3

ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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MQRankSum
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SIO_000300: -1.68e-1

VQSLOD
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SIO_000300: 5.56e-1

DP
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GenotypeDepth
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variant carriers: 0

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

Other
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 61634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.224889759921607e-4
allele num: 8164
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61662
num of homozygotes: 0

Other
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MQRankSum
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SIO_000300: 7.08e-1

VQSLOD
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InbreedingCoeff
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QD
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FS
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DP
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SIO_000300: 1.372279e6

BaseQRankSum
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SIO_000300: 2.68e0

ClippingRankSum
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SIO_000300: -7.08e-1

MQ
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SIO_000300: 5.899e1

ReadPosRankSum
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SIO_000300: 2.77e-1

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.234567901234568e-4
allele num: 8100
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.970831690973591e-4
allele num: 10148
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.804572672836147e-5
allele num: 14696
num of homozygotes: 0

African
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.95e-1

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60688
num of homozygotes: 0

East Asian
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allele num: 8044
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Other
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num of homozygotes: 0

DP
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SIO_000300: 1.356777e6

QD
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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SIO_000300: 1.41e0

MQ
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SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.82e-1

GenotypeDepth
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

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

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

East Asian
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allele count: 3
allele frequency: 3.736920777279522e-4
allele num: 8028
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60436
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
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FS
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SIO_000300: 4.82e0

VQSLOD
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SIO_000300: -6.859999999999999e-2

BaseQRankSum
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SIO_000300: 1.97e0

DP
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SIO_000300: 1.351498e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 7.061149555147578e-5
allele num: 14162
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 59082
num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
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SIO_000300: 5.11e0

VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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SIO_000300: 2.54e-1

MQ
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SIO_000300: 5.855e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9302
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.737257218303742e-5
allele num: 57562
num of homozygotes: 0

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

South Asian
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BaseQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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ReadPosRankSum
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FS
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QD
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.758643733952376e-5
allele num: 56862
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8030
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele frequency: 7.4360499702558e-5
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8682
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.821626348003498e-5
allele num: 54896
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 1.867692652497105e-5
allele num: 53542
num of homozygotes: 0

Other
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num of homozygotes: 0

DP
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SIO_000300: 1.184642e6

ClippingRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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SIO_000300: -1.713e0

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

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

European (Non-Finnish)
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allele frequency: 1.94114449879649e-5
allele num: 51516
num of homozygotes: 0

South 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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FS
type: SiteQuality
SIO_000300: 4.857e0

BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 46830
num of homozygotes: 0

Latino
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South Asian
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Other
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East Asian
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0.0e0
allele num: 46724
num of homozygotes: 0

African
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South Asian
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Other
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East Asian
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Latino
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European (Finnish)
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.501375756666166e-5
allele num: 39978
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

MQ
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.761e0

BaseQRankSum
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SIO_000300: 3.92e0

DP
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SIO_000300: 8.11682e5

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

QD
type: SiteQuality
SIO_000300: 1.813e1

GenotypeQuality
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bin: 1.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4354
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 5.139274334463974e-5
allele num: 38916
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

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

MQRankSum
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SIO_000300: -1.223e0

InbreedingCoeff
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VQSLOD
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MQ
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SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 7.443e0

ClippingRankSum
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SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

DP
type: SiteQuality
SIO_000300: 7.91101e5

QD
type: SiteQuality
SIO_000300: 9.99e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.139274334463974e-5
allele num: 38916
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

VQSLOD
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SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 7.443e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 7.91101e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.223e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

QD
type: SiteQuality
SIO_000300: 9.99e0

GenotypeQuality
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bin: 5.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
all individuals: 34487
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4286
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.988071570576541e-4
allele num: 5030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38096
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.620564808110065e-4
allele num: 5524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.72358e5

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.32e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.181e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 1.1627e1

QD
type: SiteQuality
SIO_000300: 1.235e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.984126984126984e-4
allele num: 5040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4752
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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SIO_000300: 7.31975e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.354e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4260
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32124
num of homozygotes: 0

African
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allele frequency: 1.904036557501904e-4
allele num: 5252
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4016
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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East Asian
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Other
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DP
type: SiteQuality
SIO_000300: 6.59304e5

ReadPosRankSum
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.769601930036188e-5
allele num: 26528
num of homozygotes: 0

East Asian
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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

Other
type: Population
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allele num: 400
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African
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allele frequency: 0.0e0
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South Asian
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num of homozygotes: 0

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

QD
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DP
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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African
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European (Finnish)
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European (Non-Finnish)
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allele num: 26528
num of homozygotes: 0

East Asian
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Other
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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East Asian
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European (Non-Finnish)
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 4294
num of homozygotes: 0

South Asian
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Latino
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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allele num: 3854
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European (Non-Finnish)
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allele num: 21552
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South Asian
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East Asian
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 3640
num of homozygotes: 0

European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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East Asian
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Other
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MQ
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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South Asian
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MQ
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 746
num of homozygotes: 0

Latino
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 4.091653027823241e-4
allele num: 2444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1526
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3642
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.2e0

BaseQRankSum
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SIO_000300: -2.67e-1

VQSLOD
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SIO_000300: 3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

DP
type: SiteQuality
SIO_000300: 1.62075e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

QD
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SIO_000300: 6.19e0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

East Asian
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -3.71e-2

VQSLOD
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FS
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SIO_000300: 0.0e0

DP
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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SIO_000300: 1.54e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5576
num of homozygotes: 0

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

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

South Asian
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allele frequency: 1.302761855132882e-4
allele num: 7676
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -6.419999999999999e-2

MQ
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SIO_000300: 5.965e1

DP
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SIO_000300: 2.60448e5

ReadPosRankSum
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SIO_000300: 4.4e-2

QD
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VQSLOD
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MQRankSum
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SIO_000300: -8.100000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.625e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.592e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1620
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.297690111601349e-4
allele num: 7706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.81e0

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -7.23e-2

QD
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DP
type: SiteQuality
SIO_000300: 2.76872e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.924e1

VQSLOD
type: SiteQuality
SIO_000300: -3.653e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.188067444876783e-4
allele num: 7710
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -7.3e-2

ReadPosRankSum
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VQSLOD
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MQ
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SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1622
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 352
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Other
type: Population
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African
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European (Non-Finnish)
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allele count: 0
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num of homozygotes: 0

East Asian
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MQRankSum
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QD
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FS
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

European (Finnish)
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allele frequency: 6.142506142506142e-4
allele num: 1628
num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Latino
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African
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Other
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QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 382
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1628
num of homozygotes: 0

African
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num of homozygotes: 0

Latino
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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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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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ReadPosRankSum
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SIO_000300: 7.2e-1

BaseQRankSum
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SIO_000300: 1.38e0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.408450704225352e-4
allele num: 7100
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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South Asian
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ClippingRankSum
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InbreedingCoeff
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DP
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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MQ
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QD
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ReadPosRankSum
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SIO_000300: 3.48e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.359434475258292e-4
allele num: 7356
num of homozygotes: 0

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

Other
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African
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South Asian
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: -1.799e0

ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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MQRankSum
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SIO_000300: 7.31e-1

BaseQRankSum
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SIO_000300: -7.31e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1658
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.300052002080083e-4
allele num: 7692
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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Other
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MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

ClippingRankSum
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DP
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InbreedingCoeff
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SIO_000300: -6.26e-2

QD
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BaseQRankSum
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SIO_000300: -7.42e-1

FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8672
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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European (Non-Finnish)
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East Asian
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South Asian
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DP
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FS
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MQ
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 564
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Other
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European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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East Asian
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FS
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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