2-113999033-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999033
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 15072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4843T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5886T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4834T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+95A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+95A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5886T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4843T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3244T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+95A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+95A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.1036A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+95A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3244T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+95A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+95A>G
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33254
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-113999034-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999034
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999033
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 15108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4846delC
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+93delG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5889delC
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+93delG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+93delG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+93delG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5889delC
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+93delG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3247delC
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+93delG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3247delC
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4837delC
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.1034delG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+93delG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4846delC
  variant of: http://identifiers.org/hgnc/49271
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: TC
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

2-113999042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999042
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999042
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 15648
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+86G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4843C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4852C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.1027G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+86G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+86G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+86G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5895C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+86G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+86G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3253C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3253C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4852C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+86G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5895C>T
  variant of: http://identifiers.org/hgnc/49271
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35049
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

2-113999069-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999069
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 18030
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4870G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4879G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+59C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+59C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5922G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+59C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3280G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+59C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4879G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+59C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3280G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.1000C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+59C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5922G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+59C>G
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30996
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-113999070-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999070
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999070
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 18214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.999T>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4880A>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+58T>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+58T>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+58T>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3281A>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+58T>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4871A>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5923A>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+58T>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5923A>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3281A>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+58T>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4880A>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+58T>A
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

2-113999097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999097
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999097
    reference: chr 2
allele count: 1
allele frequency: 3.544088460447973e-5
allele num: 28216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5950C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3308C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5950C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+31G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4907C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+31G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3308C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+31G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+31G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4898C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.972G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+31G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4907C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+31G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+31G>A
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-113999105-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999105
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999105
    reference: chr 2
allele count: 2
allele frequency: 6.00817111271329e-5
allele num: 33288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.964G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+23G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4906C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+23G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5958C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+23G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5958C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+23G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+23G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3316C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3316C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4915C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+23G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4915C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+23G>A
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-113999106-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999106
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999106
    reference: chr 2
allele count: 1
allele frequency: 2.950548802077186e-5
allele num: 33892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4916C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5959C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4916C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+22G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+22G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3317C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4907C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3317C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5959C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.963G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+22G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+22G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+22G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+22G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+22G>C
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

2-113999114-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999114
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999114
    reference: chr 2
allele count: 9
allele frequency: 2.199736031676199e-4
allele num: 40914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4924G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5967G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+14C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.955C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+14C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+14C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+14C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4915G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+14C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3325G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+14C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4924G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5967G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+14C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3325G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34796
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-113999117-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999117
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999117
    reference: chr 2
allele count: 10
allele frequency: 2.186939596728338e-4
allele num: 45726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5970C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3328C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4927C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.952G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4918C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5970C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3328C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4927C>T
  variant of: http://identifiers.org/hgnc/49271
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33670
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-113999121-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999121
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999121
    reference: chr 2
allele count: 2
allele frequency: 3.882138281765597e-5
allele num: 51518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.777+7A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4931T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3332T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.777+7A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.948A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.777+7A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3332T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*222+7A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.133+7A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.777+7A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5974T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4922T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4931T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5974T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.777+7A>G
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.777+7A>G
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-113999127-CCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999127
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999124
    reference: chr 2
allele count: 3
allele frequency: 5.13294322964788e-5
allele num: 58446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.775_777delCAG
  hgvsp: ENSP00000314750.5:p.Gln259del
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.775_777delCAG
  hgvsp: ENSP00000263335.7:p.Gln259del
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5983_35+5985delGCT
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3341_154+3343delGCT
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*220_*222delCAG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.939_941delCAG
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.775_777delCAG
  hgvsp: ENSP00000263334.5:p.Gln259del
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.775_777delCAG
  hgvsp: ENSP00000395498.3:p.Gln259del
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.775_777delCAG
  hgvsp: ENSP00000380768.3:p.Gln259del
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3341_164+3343delGCT
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.131_133delCAG
  hgvsp: ENSP00000451240.1:p.Gln45del
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5983_35+5985delGCT
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4940_377+4942delGCT
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4931_354+4933delGCT
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4940_132+4942delGCT
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln259del
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: CCTG
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

2-113999133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999133
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999133
    reference: chr 2
allele count: 1
allele frequency: 1.493785850860421e-5
allele num: 66944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.936G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.128G>A
  hgvsp: ENSP00000451240.1:p.Glu44Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.772G>A
  hgvsp: ENSP00000263335.7:p.Glu258Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5986C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4943C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5986C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.772G>A
  hgvsp: ENSP00000263334.5:p.Glu258Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*312G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4934C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.772G>A
  hgvsp: ENSP00000395498.3:p.Glu258Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4943C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3344C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.772G>A
  hgvsp: ENSP00000314750.5:p.Glu258Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*217G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3344C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.772G>A
  hgvsp: ENSP00000380768.3:p.Glu258Lys
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu258Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-113999142-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999142
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999142
    reference: chr 2
allele count: 1
allele frequency: 1.249593881988354e-5
allele num: 80026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.763A>C
  hgvsp: ENSP00000395498.3:p.Thr255Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+5995T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4952T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4952T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.763A>C
  hgvsp: ENSP00000380768.3:p.Thr255Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*208A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.763A>C
  hgvsp: ENSP00000263334.5:p.Thr255Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.763A>C
  hgvsp: ENSP00000263335.7:p.Thr255Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4943T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.119A>C
  hgvsp: ENSP00000451240.1:p.Thr41Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.927A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.763A>C
  hgvsp: ENSP00000314750.5:p.Thr255Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3353T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3353T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+5995T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*303A>C
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr255Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS

2-113999149-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999149
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999149
    reference: chr 2
allele count: 1
allele frequency: 1.217255818482812e-5
allele num: 82152
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.756C>A
  hgvsp: ENST00000429538.3:c.756C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3360G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.756C>A
  hgvsp: ENST00000263335.7:c.756C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.112C>A
  hgvsp: ENST00000468980.2:c.112C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.756C>A
  hgvsp: ENST00000348715.5:c.756C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*296C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6002G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6002G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.756C>A
  hgvsp: ENST00000263334.5:c.756C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.920C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*201C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4950G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4959G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.756C>A
  hgvsp: ENST00000397647.3:c.756C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4959G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3360G>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3252
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro252Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ

2-113999151-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999151
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999151
    reference: chr 2
allele count: 2
allele frequency: 2.368321333838575e-5
allele num: 84448
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.754C>G
  hgvsp: ENSP00000395498.3:p.Pro252Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4961G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6004G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4961G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*199C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.754C>G
  hgvsp: ENSP00000380768.3:p.Pro252Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3362G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*294C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.754C>G
  hgvsp: ENSP00000263334.5:p.Pro252Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6004G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.754C>G
  hgvsp: ENSP00000263335.7:p.Pro252Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.110C>G
  hgvsp: ENSP00000451240.1:p.Pro38Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.754C>G
  hgvsp: ENSP00000314750.5:p.Pro252Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.918C>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4952G>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3362G>C
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro252Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-113999154-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999154
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999154
    reference: chr 2
allele count: 1747
allele frequency: 3.236383845868841e-2
allele num: 53980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6007A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.107T>C
  hgvsp: ENSP00000451240.1:p.Ser37Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3365A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3365A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*196T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.915T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4964A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.751T>C
  hgvsp: ENSP00000395498.3:p.Ser251Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.751T>C
  hgvsp: ENSP00000314750.5:p.Ser251Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4955A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.751T>C
  hgvsp: ENSP00000380768.3:p.Ser251Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.751T>C
  hgvsp: ENSP00000263334.5:p.Ser251Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.751T>C
  hgvsp: ENSP00000263335.7:p.Ser251Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4964A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*291T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6007A>G
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 7.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 1.75e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 2.75e1
  variant carriers: 286
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
hgvs: p.Ser251Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-113999157-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999157
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999157
    reference: chr 2
allele count: 4
allele frequency: 4.168490381208446e-5
allele num: 95958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.748G>C
  hgvsp: ENSP00000263334.5:p.Ala250Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3368C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*193G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*288G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.748G>C
  hgvsp: ENSP00000395498.3:p.Ala250Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4967C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3368C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6010C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.912G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.748G>C
  hgvsp: ENSP00000263335.7:p.Ala250Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.748G>C
  hgvsp: ENSP00000314750.5:p.Ala250Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.748G>C
  hgvsp: ENSP00000380768.3:p.Ala250Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4958C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6010C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.104G>C
  hgvsp: ENSP00000451240.1:p.Ala36Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4967C>G
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9626
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9005
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala250Pro
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: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-113999159-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999159
    reference: chr 2
allele count: 1
allele frequency: 1.012207219061886e-5
allele num: 98794
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4960T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4969T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.746A>C
  hgvsp: ENSP00000263335.7:p.Tyr249Ser
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.910A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.746A>C
  hgvsp: ENSP00000395498.3:p.Tyr249Ser
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6012T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.746A>C
  hgvsp: ENSP00000314750.5:p.Tyr249Ser
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.746A>C
  hgvsp: ENSP00000263334.5:p.Tyr249Ser
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*191A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3370T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*286A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3370T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.746A>C
  hgvsp: ENSP00000380768.3:p.Tyr249Ser
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6012T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.102A>C
  hgvsp: ENSP00000451240.1:p.Tyr35Ser
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4969T>G
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr249Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-113999161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999161
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999161
    reference: chr 2
allele count: 3
allele frequency: 3.003063124386875e-5
allele num: 99898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.744C>T
  hgvsp: ENST00000263334.5:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3372G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*284C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.744C>T
  hgvsp: ENST00000263335.7:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3372G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.744C>T
  hgvsp: ENST00000348715.5:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4971G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.744C>T
  hgvsp: ENST00000429538.3:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.908C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.744C>T
  hgvsp: ENST00000397647.3:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.100C>T
  hgvsp: ENST00000468980.2:c.100C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6014G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4962G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6014G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4971G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*189C>T
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7598
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22859
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala248Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-113999162-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999162
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999162
    reference: chr 2
allele count: 1
allele frequency: 9.93917226573371e-6
allele num: 100612
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3373G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.743C>T
  hgvsp: ENSP00000263334.5:p.Ala248Val
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.99C>T
  hgvsp: ENSP00000451240.1:p.Ala34Val
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.743C>T
  hgvsp: ENSP00000395498.3:p.Ala248Val
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6015G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*188C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*283C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.743C>T
  hgvsp: ENSP00000263335.7:p.Ala248Val
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6015G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3373G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.743C>T
  hgvsp: ENSP00000380768.3:p.Ala248Val
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4963G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.743C>T
  hgvsp: ENSP00000314750.5:p.Ala248Val
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.907C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4972G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4972G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala248Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-113999176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999176
    reference: chr 2
allele count: 23
allele frequency: 2.085335557691261e-4
allele num: 110294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.729G>A
  hgvsp: ENST00000397647.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.729G>A
  hgvsp: ENST00000429538.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4977C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4986C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.729G>A
  hgvsp: ENST00000348715.5:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*174G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6029C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.729G>A
  hgvsp: ENST00000263335.7:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3387C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*269G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6029C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.729G>A
  hgvsp: ENST00000263334.5:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.893G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3387C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.85G>A
  hgvsp: ENST00000468980.2:c.85G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4986C>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln243Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

2-113999180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999180
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999180
    reference: chr 2
allele count: 1
allele frequency: 8.821142514378463e-6
allele num: 113364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.725G>A
  hgvsp: ENSP00000395498.3:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.725G>A
  hgvsp: ENSP00000380768.3:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.81G>A
  hgvsp: ENSP00000451240.1:p.Arg28Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.725G>A
  hgvsp: ENSP00000314750.5:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3391C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.725G>A
  hgvsp: ENSP00000263335.7:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.725G>A
  hgvsp: ENSP00000263334.5:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3391C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*170G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4981C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*265G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.889G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6033C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4990C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6033C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4990C>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg242Gln
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-113999181-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999181
    reference: chr 2
allele count: 4
allele frequency: 3.504406791540362e-5
allele num: 114142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*169C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.724C>T
  hgvsp: ENSP00000314750.5:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.724C>T
  hgvsp: ENSP00000263335.7:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.724C>T
  hgvsp: ENSP00000395498.3:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.724C>T
  hgvsp: ENSP00000380768.3:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3392G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3392G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4991G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.80C>T
  hgvsp: ENSP00000451240.1:p.Arg28Trp
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.888C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.724C>T
  hgvsp: ENSP00000263334.5:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*264C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6034G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4991G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4982G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6034G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg242Trp
num of homozygotes: 1
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

2-113999183-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999183
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999183
    reference: chr 2
allele count: 1
allele frequency: 8.673478238243101e-6
allele num: 115294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.78A>C
  hgvsp: ENSP00000451240.1:p.Glu27Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*262A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.886A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.722A>C
  hgvsp: ENSP00000263334.5:p.Glu241Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.722A>C
  hgvsp: ENSP00000314750.5:p.Glu241Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.722A>C
  hgvsp: ENSP00000395498.3:p.Glu241Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*167A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.722A>C
  hgvsp: ENSP00000263335.7:p.Glu241Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.722A>C
  hgvsp: ENSP00000380768.3:p.Glu241Ala
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4993T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4984T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4993T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3394T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6036T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3394T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6036T>G
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu241Ala
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-113999185-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999185
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999185
    reference: chr 2
allele count: 1
allele frequency: 8.606740799394086e-6
allele num: 116188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6038A>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*260T>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.720T>G
  hgvsp: ENSP00000263335.7:p.Phe240Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.720T>G
  hgvsp: ENSP00000314750.5:p.Phe240Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.76T>G
  hgvsp: ENSP00000451240.1:p.Phe26Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.720T>G
  hgvsp: ENSP00000380768.3:p.Phe240Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6038A>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.720T>G
  hgvsp: ENSP00000263334.5:p.Phe240Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.720T>G
  hgvsp: ENSP00000395498.3:p.Phe240Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*165T>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+4995A>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.884T>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4986A>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3396A>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3396A>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+4995A>C
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe240Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

2-113999196-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999196
    reference: chr 2
allele count: 4
allele frequency: 3.421493824203647e-5
allele num: 116908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3407C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5006C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.709G>C
  hgvsp: ENSP00000380768.3:p.Glu237Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.65G>C
  hgvsp: ENSP00000451240.1:p.Glu23Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4997C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.873G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.709G>C
  hgvsp: ENSP00000395498.3:p.Glu237Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6049C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*154G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.709G>C
  hgvsp: ENSP00000263334.5:p.Glu237Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.709G>C
  hgvsp: ENSP00000314750.5:p.Glu237Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6049C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*249G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5006C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3407C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.709G>C
  hgvsp: ENSP00000263335.7:p.Glu237Gln
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu237Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-113999196-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999196
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999196
    reference: chr 2
allele count: 1
allele frequency: 8.553734560509118e-6
allele num: 116908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.709G>A
  hgvsp: ENSP00000314750.5:p.Glu237Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.65G>A
  hgvsp: ENSP00000451240.1:p.Glu23Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5006C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6049C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.709G>A
  hgvsp: ENSP00000395498.3:p.Glu237Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.709G>A
  hgvsp: ENSP00000380768.3:p.Glu237Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6049C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3407C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4997C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.709G>A
  hgvsp: ENSP00000263334.5:p.Glu237Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.709G>A
  hgvsp: ENSP00000263335.7:p.Glu237Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.873G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*154G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*249G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3407C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5006C>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu237Lys
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: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-113999197-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999197
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999197
    reference: chr 2
allele count: 19
allele frequency: 1.616415980398829e-4
allele num: 117544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6050G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.64C>T
  hgvsp: ENST00000468980.2:c.64C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5007G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+4998G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3408G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.872C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.708C>T
  hgvsp: ENST00000263334.5:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*248C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.708C>T
  hgvsp: ENST00000429538.3:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6050G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.708C>T
  hgvsp: ENST00000397647.3:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.708C>T
  hgvsp: ENST00000263335.7:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*153C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5007G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3408G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.708C>T
  hgvsp: ENST00000348715.5:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu236Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-113999200-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999200
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999200
    reference: chr 2
allele count: 28
allele frequency: 2.389730984569166e-4
allele num: 117168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.869G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5010C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3411C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6053C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.705G>A
  hgvsp: ENST00000348715.5:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.705G>A
  hgvsp: ENST00000397647.3:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.705G>A
  hgvsp: ENST00000263334.5:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5010C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6053C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3411C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.705G>A
  hgvsp: ENST00000429538.3:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*150G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.705G>A
  hgvsp: ENST00000263335.7:c.705G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5001C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.61G>A
  hgvsp: ENST00000468980.2:c.61G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33850
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15607
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro235Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

2-113999201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999201
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999201
    reference: chr 2
allele count: 17
allele frequency: 1.442609595899594e-4
allele num: 117842
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.704C>T
  hgvsp: ENSP00000314750.5:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.60C>T
  hgvsp: ENSP00000451240.1:p.Pro21Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.868C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5002G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.704C>T
  hgvsp: ENSP00000263334.5:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*149C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.704C>T
  hgvsp: ENSP00000395498.3:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3412G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3412G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.704C>T
  hgvsp: ENSP00000263335.7:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*244C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6054G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5011G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5011G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6054G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.704C>T
  hgvsp: ENSP00000380768.3:p.Pro235Leu
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro235Leu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-113999201-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999201
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999201
    reference: chr 2
allele count: 1
allele frequency: 8.485938799409379e-6
allele num: 117842
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*149C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.60C>A
  hgvsp: ENSP00000451240.1:p.Pro21Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*244C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.868C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3412G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3412G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.704C>A
  hgvsp: ENSP00000263335.7:p.Pro235Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.704C>A
  hgvsp: ENSP00000395498.3:p.Pro235Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5011G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6054G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.704C>A
  hgvsp: ENSP00000380768.3:p.Pro235Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.704C>A
  hgvsp: ENSP00000263334.5:p.Pro235Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5011G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5002G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.704C>A
  hgvsp: ENSP00000314750.5:p.Pro235Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6054G>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro235Gln
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-113999204-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999204
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999204
    reference: chr 2
allele count: 3
allele frequency: 2.526826474403248e-5
allele num: 118726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.701A>G
  hgvsp: ENSP00000380768.3:p.Glu234Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.701A>G
  hgvsp: ENSP00000263334.5:p.Glu234Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.865A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.701A>G
  hgvsp: ENSP00000395498.3:p.Glu234Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*241A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6057T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5005T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.701A>G
  hgvsp: ENSP00000263335.7:p.Glu234Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5014T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.57A>G
  hgvsp: ENSP00000451240.1:p.Glu20Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*146A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3415T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.701A>G
  hgvsp: ENSP00000314750.5:p.Glu234Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3415T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6057T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5014T>C
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu234Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-113999205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999205
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999205
    reference: chr 2
allele count: 31
allele frequency: 2.606137032366541e-4
allele num: 118950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5015C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3416C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*145G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.700G>A
  hgvsp: ENSP00000263334.5:p.Glu234Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.700G>A
  hgvsp: ENSP00000395498.3:p.Glu234Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5006C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6058C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3416C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5015C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.700G>A
  hgvsp: ENSP00000314750.5:p.Glu234Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.700G>A
  hgvsp: ENSP00000380768.3:p.Glu234Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6058C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.864G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.700G>A
  hgvsp: ENSP00000263335.7:p.Glu234Lys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.56G>A
  hgvsp: ENSP00000451240.1:p.Glu20Lys
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu234Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ

2-113999206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999206
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999206
    reference: chr 2
allele count: 3
allele frequency: 2.537641684994079e-5
allele num: 118220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3417G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.699C>T
  hgvsp: ENST00000429538.3:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5007G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.699C>T
  hgvsp: ENST00000397647.3:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6059G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.699C>T
  hgvsp: ENST00000263335.7:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.699C>T
  hgvsp: ENST00000348715.5:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.699C>T
  hgvsp: ENST00000263334.5:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*239C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.863C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3417G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.55C>T
  hgvsp: ENST00000468980.2:c.55C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5016G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*144C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6059G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5016G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu233Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-113999210-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999210
    reference: chr 2
allele count: 80
allele frequency: 6.939625260235947e-4
allele num: 115280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5020T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.695A>C
  hgvsp: ENSP00000314750.5:p.His232Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*140A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5020T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6063T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.695A>C
  hgvsp: ENSP00000395498.3:p.His232Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.859A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.695A>C
  hgvsp: ENSP00000263335.7:p.His232Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.695A>C
  hgvsp: ENSP00000263334.5:p.His232Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.695A>C
  hgvsp: ENSP00000380768.3:p.His232Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.51A>C
  hgvsp: ENSP00000451240.1:p.His18Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6063T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5011T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3421T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*235A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3421T>G
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16226
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His232Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-113999213-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999213
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999213
    reference: chr 2
allele count: 1
allele frequency: 8.3558942478024e-6
allele num: 119676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.856A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.692A>G
  hgvsp: ENSP00000263335.7:p.His231Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.48A>G
  hgvsp: ENSP00000451240.1:p.His17Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*232A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*137A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.692A>G
  hgvsp: ENSP00000380768.3:p.His231Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6066T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3424T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.692A>G
  hgvsp: ENSP00000395498.3:p.His231Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3424T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.692A>G
  hgvsp: ENSP00000314750.5:p.His231Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5014T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5023T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5023T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.692A>G
  hgvsp: ENSP00000263334.5:p.His231Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6066T>C
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His231Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-113999213-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999213
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999213
    reference: chr 2
allele count: 4
allele frequency: 3.34235769912096e-5
allele num: 119676
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.692A>C
  hgvsp: ENSP00000263335.7:p.His231Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3424T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.692A>C
  hgvsp: ENSP00000395498.3:p.His231Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*137A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6066T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.692A>C
  hgvsp: ENSP00000263334.5:p.His231Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.48A>C
  hgvsp: ENSP00000451240.1:p.His17Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5023T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5023T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3424T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.692A>C
  hgvsp: ENSP00000314750.5:p.His231Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*232A>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.692A>C
  hgvsp: ENSP00000380768.3:p.His231Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5014T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6066T>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.856A>C
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His231Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-113999230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999230
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999230
    reference: chr 2
allele count: 2
allele frequency: 1.660274609420398e-5
allele num: 120462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3441C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6083C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.675G>A
  hgvsp: ENST00000348715.5:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.31G>A
  hgvsp: ENST00000468980.2:c.31G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5040C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.675G>A
  hgvsp: ENST00000429538.3:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5040C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.675G>A
  hgvsp: ENST00000263335.7:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3441C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.675G>A
  hgvsp: ENST00000397647.3:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5031C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*120G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.675G>A
  hgvsp: ENST00000263334.5:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.839G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6083C>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr225Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-113999231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999231
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999231
    reference: chr 2
allele count: 3
allele frequency: 2.48987451032468e-5
allele num: 120488
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.674C>T
  hgvsp: ENSP00000395498.3:p.Thr225Met
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.674C>T
  hgvsp: ENSP00000314750.5:p.Thr225Met
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.30C>T
  hgvsp: ENSP00000451240.1:p.Thr11Met
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3442G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.674C>T
  hgvsp: ENSP00000263335.7:p.Thr225Met
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.674C>T
  hgvsp: ENSP00000380768.3:p.Thr225Met
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*119C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5032G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.674C>T
  hgvsp: ENSP00000263334.5:p.Thr225Met
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6084G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6084G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.838C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5041G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3442G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5041G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr225Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-113999234-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999234
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999234
    reference: chr 2
allele count: 2
allele frequency: 1.659227795384028e-5
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.27G>A
  hgvsp: ENSP00000451240.1:p.Arg10His
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3445C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.835G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*116G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.671G>A
  hgvsp: ENSP00000395498.3:p.Arg224His
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.671G>A
  hgvsp: ENSP00000380768.3:p.Arg224His
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6087C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5044C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6087C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5035C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.671G>A
  hgvsp: ENSP00000263335.7:p.Arg224His
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.671G>A
  hgvsp: ENSP00000263334.5:p.Arg224His
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3445C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*211G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.671G>A
  hgvsp: ENSP00000314750.5:p.Arg224His
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5044C>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg224His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

2-113999235-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999235
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999235
    reference: chr 2
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.670C>T
  hgvsp: ENSP00000380768.3:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3446G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.670C>T
  hgvsp: ENSP00000263334.5:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.834C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*210C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.670C>T
  hgvsp: ENSP00000314750.5:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6088G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.670C>T
  hgvsp: ENSP00000263335.7:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3446G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.670C>T
  hgvsp: ENSP00000395498.3:p.Arg224Cys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*115C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5045G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.26C>T
  hgvsp: ENSP00000451240.1:p.Arg10Cys
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6088G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5036G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5045G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg224Cys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

2-113999237-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999237
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999237
    reference: chr 2
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.24T>C
  hgvsp: ENSP00000451240.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.668T>C
  hgvsp: ENSP00000380768.3:p.Leu223Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.668T>C
  hgvsp: ENSP00000395498.3:p.Leu223Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3448A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5047A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5047A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.832T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*113T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5038A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.668T>C
  hgvsp: ENSP00000263334.5:p.Leu223Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6090A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3448A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.668T>C
  hgvsp: ENSP00000314750.5:p.Leu223Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.668T>C
  hgvsp: ENSP00000263335.7:p.Leu223Pro
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*208T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6090A>G
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu223Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-113999253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999253
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999253
    reference: chr 2
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6106C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5063C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3464C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5054C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5063C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*97G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.652G>C
  hgvsp: ENSP00000263334.5:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.652G>C
  hgvsp: ENSP00000263335.7:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.816G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.652G>C
  hgvsp: ENSP00000395498.3:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6106C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.652G>C
  hgvsp: ENSP00000380768.3:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.8G>C
  hgvsp: ENSP00000451240.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3464C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*192G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.652G>C
  hgvsp: ENSP00000314750.5:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly218Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

2-113999253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999253
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999253
    reference: chr 2
allele count: 2
allele frequency: 1.657110661849998e-5
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*192G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5063C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.652G>A
  hgvsp: ENSP00000314750.5:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.652G>A
  hgvsp: ENSP00000263334.5:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.8G>A
  hgvsp: ENSP00000451240.1:p.Gly4Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6106C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.652G>A
  hgvsp: ENSP00000395498.3:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5063C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5054C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.652G>A
  hgvsp: ENSP00000380768.3:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.652G>A
  hgvsp: ENSP00000263335.7:p.Gly218Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.816G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*97G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3464C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6106C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3464C>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly218Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-113999254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999254
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999254
    reference: chr 2
allele count: 3
allele frequency: 2.485501242750621e-5
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.7C>T
  hgvsp: ENST00000468980.2:c.7C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.651C>T
  hgvsp: ENST00000263334.5:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.815C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6107G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.651C>T
  hgvsp: ENST00000348715.5:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.651C>T
  hgvsp: ENST00000263335.7:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*96C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.651C>T
  hgvsp: ENST00000429538.3:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5055G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3465G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5064G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5064G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.651C>T
  hgvsp: ENST00000397647.3:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6107G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3465G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser217Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-113999256-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999256
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999256
    reference: chr 2
allele count: 3
allele frequency: 2.485336514564072e-5
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.649A>G
  hgvsp: ENSP00000395498.3:p.Ser217Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6109T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*94A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.813A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.649A>G
  hgvsp: ENSP00000263335.7:p.Ser217Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3467T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.649A>G
  hgvsp: ENSP00000263334.5:p.Ser217Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*189A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.5A>G
  hgvsp: ENSP00000451240.1:p.Ser3Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.649A>G
  hgvsp: ENSP00000314750.5:p.Ser217Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.649A>G
  hgvsp: ENSP00000380768.3:p.Ser217Gly
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5066T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5066T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3467T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5057T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6109T>C
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser217Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

2-113999257-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999257
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999257
    reference: chr 2
allele count: 1
allele frequency: 8.284317786430287e-6
allele num: 120710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.812C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.648C>A
  hgvsp: ENSP00000380768.3:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6110G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*93C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.648C>A
  hgvsp: ENSP00000395498.3:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.648C>A
  hgvsp: ENSP00000263335.7:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5058G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*188C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3468G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.648C>A
  hgvsp: ENSP00000314750.5:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.4C>A
  hgvsp: ENSP00000451240.1:p.Ser2Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5067G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3468G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6110G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.648C>A
  hgvsp: ENSP00000263334.5:p.Ser216Arg
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5067G>T
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser216Arg
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-113999260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999260
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999260
    reference: chr 2
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.645C>T
  hgvsp: ENST00000348715.5:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*90C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5070G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3471G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.645C>T
  hgvsp: ENST00000263335.7:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6113G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.809C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.645C>T
  hgvsp: ENST00000429538.3:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.645C>T
  hgvsp: ENST00000263334.5:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*185C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3471G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.645C>T
  hgvsp: ENST00000397647.3:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6113G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451240
  ensembl transcript: ENST00000468980
  gene symbol: PAX8
  hgvsc: ENST00000468980.2:c.1C>T
  hgvsp: ENST00000468980.2:c.1C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5061G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5070G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser215Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-113999275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999275
    reference: chr 2
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6128A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*75T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.794T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3486A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6128A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3486A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.630T>C
  hgvsp: ENST00000429538.3:c.630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.630T>C
  hgvsp: ENST00000263335.7:c.630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.630T>C
  hgvsp: ENST00000263334.5:c.630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.630T>C
  hgvsp: ENST00000397647.3:c.630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5085A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*170T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5085A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.630T>C
  hgvsp: ENST00000348715.5:c.630T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5076A>G
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile210Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-113999285-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999285
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999285
    reference: chr 2
allele count: 6
allele frequency: 4.969849579219402e-5
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5095C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.620G>A
  hgvsp: ENSP00000263334.5:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6138C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.784G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3496C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*160G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5095C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6138C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.620G>A
  hgvsp: ENSP00000380768.3:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5086C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.620G>A
  hgvsp: ENSP00000263335.7:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.620G>A
  hgvsp: ENSP00000395498.3:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.620G>A
  hgvsp: ENSP00000314750.5:p.Arg207Gln
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3496C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*65G>A
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg207Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-113999287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999287
    reference: chr 2
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*63C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.618C>T
  hgvsp: ENST00000429538.3:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.618C>T
  hgvsp: ENST00000263335.7:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.618C>T
  hgvsp: ENST00000397647.3:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5097G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*158C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.618C>T
  hgvsp: ENST00000348715.5:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5088G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6140G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.618C>T
  hgvsp: ENST00000263334.5:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.782C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6140G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3498G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5097G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3498G>A
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys206Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

2-113999291-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999291
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999291
    reference: chr 2
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.614G>C
  hgvsp: ENSP00000380768.3:p.Ser205Thr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.614G>C
  hgvsp: ENSP00000263334.5:p.Ser205Thr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*154G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5101C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6144C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6144C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5101C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5092C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.614G>C
  hgvsp: ENSP00000395498.3:p.Ser205Thr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.614G>C
  hgvsp: ENSP00000263335.7:p.Ser205Thr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.778G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*59G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3502C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.614G>C
  hgvsp: ENSP00000314750.5:p.Ser205Thr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3502C>G
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser205Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/2-113999301-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999301
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999301
    reference: chr 2
allele count: 1
allele frequency: 8.28349430923941e-6
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*49G>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.604G>T
  hgvsp: ENSP00000314750.5:p.Asp202Tyr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6154C>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6154C>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5102C>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3512C>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.604G>T
  hgvsp: ENSP00000263334.5:p.Asp202Tyr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.604G>T
  hgvsp: ENSP00000395498.3:p.Asp202Tyr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.604G>T
  hgvsp: ENSP00000380768.3:p.Asp202Tyr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*144G>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.604G>T
  hgvsp: ENSP00000263335.7:p.Asp202Tyr
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5111C>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3512C>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5111C>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.768G>T
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp202Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

2-113999303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999303
    reference: chr 2
allele count: 4
allele frequency: 3.313452617627568e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602G>A
  hgvsp: ENSP00000263334.5:p.Ser201Asn
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602G>A
  hgvsp: ENSP00000314750.5:p.Ser201Asn
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6156C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3514C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602G>A
  hgvsp: ENSP00000263335.7:p.Ser201Asn
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3514C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5113C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602G>A
  hgvsp: ENSP00000380768.3:p.Ser201Asn
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*47G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6156C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5104C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5113C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602G>A
  hgvsp: ENSP00000395498.3:p.Ser201Asn
  variant of: http://identifiers.org/hgnc/8622
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser201Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-113999308-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999308
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999308
    reference: chr 2
allele count: 1
allele frequency: 8.283906027370025e-6
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-5A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3519T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3519T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-5A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*42A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6161T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-5A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5109T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-5A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-5A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-5A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-5A>G
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6161T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5118T>C
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5118T>C
  variant of: http://identifiers.org/hgnc/49271
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.602-5A>G
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-113999313-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999313
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999313
    reference: chr 2
allele count: 2
allele frequency: 1.657000828500414e-5
allele num: 120700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-10G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-10G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-10G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6166C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5114C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5123C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-10G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-10G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6166C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3524C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*37G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-10G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3524C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-10G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5123C>G
  variant of: http://identifiers.org/hgnc/49271
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-113999314-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999314
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999314
    reference: chr 2
allele count: 9
allele frequency: 7.456380175970572e-5
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3525C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5115C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3525C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6167C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5124C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6167C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*36G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5124C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-11G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-11G>A
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

2-113999315-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999315
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999315
    reference: chr 2
allele count: 3
allele frequency: 2.48562480322137e-5
allele num: 120694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-12G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-12G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-12G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5125C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3526C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*35G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5116C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6168C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3526C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-12G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-12G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-12G>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6168C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5125C>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-12G>C
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-113999316-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999316
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999316
    reference: chr 2
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3527G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-13C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*34C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-13C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5126G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6169G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-13C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5117G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-13C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-13C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5126G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-13C>T
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6169G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3527G>A
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-13C>T
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

2-113999319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999319
    reference: chr 2
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5129A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-16T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3530A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-16T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6172A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3530A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*31T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-16T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6172A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5120A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-16T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5129A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-16T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-16T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-16T>C
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-113999325-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999325
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999325
    reference: chr 2
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6178G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-22C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-22C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3536G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-22C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5126G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-22C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-22C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5135G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3536G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-22C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*25C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-22C>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5135G>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6178G>T
  variant of: http://identifiers.org/hgnc/49271
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

2-113999326-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999326
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999326
    reference: chr 2
allele count: 2
allele frequency: 1.659282857948795e-5
allele num: 120534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-23T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*24T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-23T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5127A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-23T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-23T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3537A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6179A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5136A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3537A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-23T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6179A>G
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-23T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-23T>C
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5136A>G
  variant of: http://identifiers.org/hgnc/49271
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-113999330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113999330
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113999330
    reference: chr 2
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000395498
  ensembl transcript: ENST00000429538
  gene symbol: PAX8
  hgvsc: ENST00000429538.3:c.602-27G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000436293
  gene symbol: PAX8-AS1
  hgvsc: ENST00000436293.2:n.354+5131C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000314750
  ensembl transcript: ENST00000348715
  gene symbol: PAX8
  hgvsc: ENST00000348715.5:c.602-27G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000380768
  ensembl transcript: ENST00000397647
  gene symbol: PAX8
  hgvsc: ENST00000397647.3:c.602-27G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451618
  ensembl transcript: ENST00000497038
  gene symbol: PAX8
  hgvsc: ENST00000497038.2:c.*20G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000333145
  gene symbol: PAX8-AS1
  hgvsc: ENST00000333145.5:n.132+5140C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000556070
  gene symbol: PAX8-AS1
  hgvsc: ENST00000556070.1:n.35+6183C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000451179
  gene symbol: PAX8-AS1
  hgvsc: ENST00000451179.1:n.164+3541C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000445745
  gene symbol: PAX8-AS1
  hgvsc: ENST00000445745.1:n.377+5140C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000422956
  gene symbol: PAX8-AS1
  hgvsc: ENST00000422956.2:n.35+6183C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000189223
  ensembl transcript: ENST00000553869
  gene symbol: PAX8-AS1
  hgvsc: ENST00000553869.2:n.154+3541C>T
  variant of: http://identifiers.org/hgnc/49271
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263335
  ensembl transcript: ENST00000263335
  gene symbol: PAX8
  hgvsc: ENST00000263335.7:c.602-27G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000263334
  ensembl transcript: ENST00000263334
  gene symbol: PAX8
  hgvsc: ENST00000263334.5:c.602-27G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl protein: ENSP00000451213
  ensembl transcript: ENST00000554830
  gene symbol: PAX8
  hgvsc: ENST00000554830.1:c.*142-27G>A
  variant of: http://identifiers.org/hgnc/8622
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125618
  ensembl transcript: ENST00000467778
  gene symbol: PAX8
  hgvsc: ENST00000467778.1:n.766-27G>A
  variant of: http://identifiers.org/hgnc/8622
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 241
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30302
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 799
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

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

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

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 frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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Other
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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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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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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num of homozygotes: 0

European (Finnish)
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South Asian
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Latino
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num of homozygotes: 0

African
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East Asian
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Other
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QD
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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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 count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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num of homozygotes: 0

African
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num of homozygotes: 0

Other
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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MQ
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QD
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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num of homozygotes: 0

European (Non-Finnish)
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Other
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European (Finnish)
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African
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South Asian
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East Asian
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FS
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VQSLOD
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InbreedingCoeff
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QD
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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Other
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East Asian
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Latino
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African
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European (Finnish)
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FS
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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East Asian
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DP
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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African
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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 16630
num of homozygotes: 0

Other
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BaseQRankSum
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SIO_000300: -1.098e0

InbreedingCoeff
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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QD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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allele frequency: 9.813542688910696e-4
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num of homozygotes: 0

Other
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 20778
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African
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
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MQRankSum
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QD
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MQ
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FS
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VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -1.08e-2

ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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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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South Asian
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allele num: 10080
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Other
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MQRankSum
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SIO_000300: -3.8e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: 7.61e-1

FS
type: SiteQuality
SIO_000300: 6.07e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -9.900000000000001e-3

QD
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VQSLOD
type: SiteQuality
SIO_000300: 9.73e-1

ReadPosRankSum
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SIO_000300: 5.93e-1

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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GenotypeDepth
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GenotypeDepth
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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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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 (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 27344
num of homozygotes: 0

Other
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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SIO_000300: 3.58e-1

MQRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 1.43e-1

ReadPosRankSum
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SIO_000300: 9.22e-1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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European (Non-Finnish)
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East Asian
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Other
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African
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South Asian
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DP
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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European (Non-Finnish)
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African
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Latino
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South Asian
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East Asian
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Other
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QD
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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ClippingRankSum
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DP
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BaseQRankSum
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SIO_000300: -3.2e-1

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24990
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.236436015565595e-5
allele num: 44714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.192e0

DP
type: SiteQuality
SIO_000300: 1.027933e6

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 2.416e1

FS
type: SiteQuality
SIO_000300: 4.443e0

GenotypeDepth
all individuals: 15487
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45894
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.443418013856813e-4
allele num: 6928
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13268
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 1.146835e6

QD
type: SiteQuality
SIO_000300: 8.56e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeDepth
all individuals: 19786
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
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variant carriers: 0

GenotypeDepth
all individuals: 52
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2481
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 8.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.445899379738112e-4
allele num: 5804
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3576
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.157801e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 1.1379e1

VQSLOD
type: SiteQuality
SIO_000300: -1.919e0

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

GenotypeDepth
all individuals: 414
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 10

GenotypeDepth
all individuals: 9057
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variant carriers: 206

GenotypeDepth
all individuals: 483
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variant carriers: 35

GenotypeDepth
all individuals: 19
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variant carriers: 6

GenotypeDepth
all individuals: 67
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variant carriers: 2

GenotypeDepth
all individuals: 436
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variant carriers: 28

GenotypeDepth
all individuals: 151
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variant carriers: 18

GenotypeDepth
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variant carriers: 90

GenotypeDepth
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variant carriers: 512

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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variant carriers: 84

GenotypeQuality
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variant carriers: 100

GenotypeQuality
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GenotypeQuality
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variant carriers: 122

GenotypeQuality
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variant carriers: 77

GenotypeQuality
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GenotypeQuality
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variant carriers: 88

GenotypeQuality
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GenotypeQuality
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variant carriers: 105

GenotypeQuality
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variant carriers: 50

GenotypeQuality
all individuals: 2024
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variant carriers: 131

GenotypeQuality
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variant carriers: 128

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 100

GenotypeQuality
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variant carriers: 118

GenotypeQuality
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GenotypeQuality
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variant carriers: 366

GenotypeQuality
all individuals: 396
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variant carriers: 64

GenotypeQuality
all individuals: 1093
bin: 6.75e1
variant carriers: 109

East Asian
type: Population
allele count: 185
allele frequency: 6.450488145048815e-2
allele num: 2868
num of homozygotes: 0

Latino
type: Population
allele count: 232
allele frequency: 7.013301088270858e-2
allele num: 3308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 847
allele frequency: 2.664359861591695e-2
allele num: 31790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 145
allele frequency: 1.067746686303387e-1
allele num: 1358
num of homozygotes: 0

South Asian
type: Population
allele count: 122
allele frequency: 1.104472207133804e-2
allele num: 11046
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 2.91005291005291e-2
allele num: 378
num of homozygotes: 0

African
type: Population
allele count: 205
allele frequency: 6.342821782178218e-2
allele num: 3232
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.264e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.58e-2

FS
type: SiteQuality
SIO_000300: 6.998999999999999e1

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

DP
type: SiteQuality
SIO_000300: 1.162675e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.79e-1

QD
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 361
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variant carriers: 0

GenotypeDepth
all individuals: 3
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variant carriers: 0

GenotypeDepth
all individuals: 454
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GenotypeDepth
all individuals: 8
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GenotypeDepth
all individuals: 21
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 3999
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GenotypeQuality
all individuals: 1872
bin: 4.25e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 2.21483942414175e-4
allele num: 9030
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.353546291283162e-4
allele num: 7388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4502
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.449695563931574e-4
allele num: 6898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52988
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.544e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
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SIO_000300: 3.307e1

DP
type: SiteQuality
SIO_000300: 1.124087e6

BaseQRankSum
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SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.71e-1

GenotypeDepth
all individuals: 89
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 3095
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 367
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GenotypeQuality
all individuals: 531
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4840
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.833180568285976e-5
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Latino
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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

East Asian
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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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BaseQRankSum
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SIO_000300: 2.98e0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele frequency: 5.437540781555862e-5
allele num: 55172
num of homozygotes: 0

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

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

South Asian
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DP
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 3.0e-4

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

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

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

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

African
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num of homozygotes: 0

Latino
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allele frequency: 1.050640890943476e-4
allele num: 9518
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DP
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MQRankSum
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.12e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 9.399999999999999e-1

GenotypeDepth
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variant carriers: 1

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

South Asian
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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Latino
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East Asian
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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Latino
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Other
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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QD
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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Other
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East Asian
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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FS
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.287726358148894e-5
allele num: 15904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63960
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.406756e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.256256256256256e-5
allele num: 15984
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
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SIO_000300: 2.93e0

VQSLOD
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SIO_000300: 1.05e0

ClippingRankSum
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SIO_000300: -1.119e0

QD
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SIO_000300: 1.286e1

InbreedingCoeff
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SIO_000300: 2.4e-3

DP
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SIO_000300: 1.420903e6

ReadPosRankSum
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SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 4.639e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 1269
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.679049830326844e-4
allele num: 11198
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543686322939179e-5
allele num: 64780
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

QD
type: SiteQuality
SIO_000300: 1.515e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 1.169e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.497294e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 1

GenotypeQuality
all individuals: 308
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.93016610108948e-5
allele num: 11198
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64780
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
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SIO_000300: 9.389999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.169e0

DP
type: SiteQuality
SIO_000300: 1.497294e6

VQSLOD
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SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.515e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.609363008442057e-4
allele num: 65150
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6278
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.892050506846879e-5
allele num: 11246
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
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SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
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SIO_000300: 1.39e-1

InbreedingCoeff
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SIO_000300: 5.9e-3

VQSLOD
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SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.501864e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540215014015957e-5
allele num: 64926
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.400426742532006e-3
allele num: 11248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
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SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 1.327e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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QD
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SIO_000300: 1.275e1

VQSLOD
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SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.514242e6

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.231527093596059e-4
allele num: 16240
num of homozygotes: 0

African
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allele count: 14
allele frequency: 1.49349263921485e-3
allele num: 9374
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.531440472908818e-5
allele num: 65298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 6.47e-1

DP
type: SiteQuality
SIO_000300: 1.509298e6

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.473e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 1

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65298
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.066780456582035e-4
allele num: 9374
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.509298e6

MQ
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 1.5e-3

QD
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MQRankSum
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SIO_000300: -1.55e-1

FS
type: SiteQuality
SIO_000300: 6.47e-1

ClippingRankSum
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SIO_000300: -1.407e0

ReadPosRankSum
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SIO_000300: 2.03e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.5639870991298e-5
allele num: 65732
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.502587e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

FS
type: SiteQuality
SIO_000300: 1.1101e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 8.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.18e0

QD
type: SiteQuality
SIO_000300: 1.387e1

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.556178026766262e-4
allele num: 6426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.555808656036447e-4
allele num: 65850
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
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SIO_000300: 2.66e-1

QD
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SIO_000300: 1.41e1

BaseQRankSum
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SIO_000300: -1.975e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

DP
type: SiteQuality
SIO_000300: 1.503634e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

FS
type: SiteQuality
SIO_000300: 1.273e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527603800678256e-5
allele num: 65462
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9480
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.419e1

FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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SIO_000300: -1.141e0

MQRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.494136e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 5

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

European (Finnish)
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allele count: 46
allele frequency: 8.604564160119716e-3
allele num: 5346
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.16827041697508e-5
allele num: 16212
num of homozygotes: 0

African
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allele count: 5
allele frequency: 5.359056806002144e-4
allele num: 9330
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.730251183108846e-4
allele num: 10988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.796942010068992e-4
allele num: 64356
num of homozygotes: 0

East Asian
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allele count: 7
allele frequency: 8.50753524550316e-4
allele num: 8228
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

QD
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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African
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European (Finnish)
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East Asian
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South Asian
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MQRankSum
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BaseQRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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East Asian
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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African
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BaseQRankSum
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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Latino
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Other
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BaseQRankSum
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SIO_000300: 8.699999999999999e-2

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

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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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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

DP
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FS
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InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -8.400000000000001e-2

MQ
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SIO_000300: 5.922e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele num: 9792
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

East Asian
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allele num: 8626
num of homozygotes: 0

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

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

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

Other
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allele count: 0
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num of homozygotes: 0

South Asian
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BaseQRankSum
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SIO_000300: -7.05e-1

QD
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ReadPosRankSum
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SIO_000300: 1.1e-1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: 7.85e-1

InbreedingCoeff
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DP
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SIO_000300: 1.532204e6

MQRankSum
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SIO_000300: 3.14e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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num of homozygotes: 0

South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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African
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allele num: 9800
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Other
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MQRankSum
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SIO_000300: 3.14e-1

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele num: 66696
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African
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Other
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European (Finnish)
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Latino
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South Asian
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East Asian
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ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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FS
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QD
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MQ
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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Latino
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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MQRankSum
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QD
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InbreedingCoeff
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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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variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

Other
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: 9802
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.904e1

MQRankSum
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SIO_000300: 3.86e-1

InbreedingCoeff
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SIO_000300: 4.6e-3

ReadPosRankSum
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SIO_000300: 9.52e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

BaseQRankSum
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SIO_000300: -1.082e0

FS
type: SiteQuality
SIO_000300: 5.606e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.359999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.532224e6

GenotypeDepth
all individuals: 181
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.040816326530612e-4
allele num: 9800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 896
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -2.122e0

QD
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MQRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

DP
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InbreedingCoeff
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SIO_000300: 9.0e-4

ReadPosRankSum
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SIO_000300: 2.7e-1

ClippingRankSum
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SIO_000300: 1.6e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

FS
type: SiteQuality
SIO_000300: 6.16e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

DP
type: SiteQuality
SIO_000300: 1.532827e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.44e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 8.993884158772035e-5
allele num: 66712
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
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SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.911e1

FS
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SIO_000300: 0.0e0

ClippingRankSum
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ReadPosRankSum
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DP
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 5.25e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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allele num: 8626
num of homozygotes: 0

African
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allele count: 0
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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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

European (Finnish)
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Other
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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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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European (Non-Finnish)
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allele num: 66712
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Latino
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European (Finnish)
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African
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Other
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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

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 count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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SIO_000300: 1.202e1

BaseQRankSum
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SIO_000300: -3.024e0

DP
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
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 frequency: 5.996282304970918e-5
allele num: 66708
num of homozygotes: 0

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

Latino
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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 frequency: 0.0e0
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MQ
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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QD
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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allele frequency: 1.020408163265306e-4
allele num: 9800
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: -2.373e0

ClippingRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.832e1

QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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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: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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QD
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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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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South Asian
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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Other
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South Asian
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European (Finnish)
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East Asian
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Latino
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allele num: 11570
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European (Non-Finnish)
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ClippingRankSum
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DP
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.532272e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: -5.887e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.283e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.263e1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

FS
type: SiteQuality
SIO_000300: 2.932e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.096e0

DP
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SIO_000300: 1.531414e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

QD
type: SiteQuality
SIO_000300: 9.25e0

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 1.529928e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.934e0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
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SIO_000300: 2.08e-1

FS
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QD
type: SiteQuality
SIO_000300: 1.523e1

VQSLOD
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SIO_000300: 1.77e0

ClippingRankSum
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SIO_000300: -4.16e-1

DP
type: SiteQuality
SIO_000300: 1.52941e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.41e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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