1-235564903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564903
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564903
    reference: chr 1
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+1G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+1G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+1G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12845G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+1G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 9.25e1
  variant carriers: 0
hgvs: c.185+1G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

1-235564913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564913
    reference: chr 1
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+11A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+11A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+11A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12835A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+11A>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5945
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23841
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2402
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

1-235564924-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564924
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564924
    reference: chr 1
allele count: 10893
allele frequency: 9.028445446407851e-2
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+22G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+22G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+22G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12824G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+22G>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 2.25e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.75e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 16707
  bin: 2.75e1
  variant carriers: 437
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 4.25e1
  variant carriers: 1105
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.25e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.75e1
  variant carriers: 791
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 3.25e1
  variant carriers: 683
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.75e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 6.75e1
  variant carriers: 469
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 4.75e1
  variant carriers: 1182
genotype depth: GenotypeDepth
  all individuals: 6433
  bin: 9.75e1
  variant carriers: 1614
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.25e1
  variant carriers: 616
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 5.25e1
  variant carriers: 1115
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 3.75e1
  variant carriers: 913
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.75e1
  variant carriers: 123
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 21727
  bin: 9.75e1
  variant carriers: 10074
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 6.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 21385
  bin: 6.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 694
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-235564927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564927
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564927
    reference: chr 1
allele count: 11
allele frequency: 9.13166196247717e-5
allele num: 120460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+25C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+25C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+25C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+25C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12821C>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19067
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7905
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-235564928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564928
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564928
    reference: chr 1
allele count: 1
allele frequency: 8.306889734345666e-6
allele num: 120382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12820G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+26G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+26G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+26G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+26G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12200
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24104
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

1-235564929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564929
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564929
    reference: chr 1
allele count: 12
allele frequency: 9.973404255319148e-5
allele num: 120320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+27G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+27G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+27G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12819G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+27G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11792
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18115
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13818
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 22517
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

1-235564930-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564930
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564930
    reference: chr 1
allele count: 2
allele frequency: 1.66220641279234e-5
allele num: 120322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+28T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+28T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+28T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12818T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+28T>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13810
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-235564931-C-CATTTAGTCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564931
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564941
    reference: chr 1
allele count: 2
allele frequency: 1.662620955674525e-5
allele num: 120292
alternate allele: CATTTAGTCAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2094
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7335
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13808
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22943
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

1-235564932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564932
    reference: chr 1
allele count: 3
allele frequency: 2.493848507016027e-5
allele num: 120296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+30A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12816A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+30A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+30A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+30A>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22476
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2962
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

1-235564942-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564942
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564942
    reference: chr 1
allele count: 3
allele frequency: 2.50400641025641e-5
allele num: 119808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+40G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12806G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+40G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+40G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+40G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7894
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3262
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 252
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6068
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

1-235564945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235564945
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235564945
    reference: chr 1
allele count: 1
allele frequency: 8.367920739054759e-6
allele num: 119504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-12803T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.185+43T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.344+43T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.185+43T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.185+43T>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3573
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
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genotype quality: GenotypeQuality
  all individuals: 5398
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genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-235577698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577698
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577698
    reference: chr 1
allele count: 1
allele frequency: 8.375349670848758e-6
allele num: 119398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-50C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-50C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-50C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-50C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-50C>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 211
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-235577701-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577701
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577701
    reference: chr 1
allele count: 1
allele frequency: 8.371983992766606e-6
allele num: 119446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-47T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-47T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-47T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-47T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-47T>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8303
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

1-235577702-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577702
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577702
    reference: chr 1
allele count: 8
allele frequency: 6.698147962088483e-5
allele num: 119436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-46C>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-46C>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-46C>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-46C>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-46C>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7369
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-235577703-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577703
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577703
    reference: chr 1
allele count: 1
allele frequency: 8.374928813105088e-6
allele num: 119404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-45T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-45T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-45T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-45T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-45T>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8951
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-235577705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577705
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577705
    reference: chr 1
allele count: 2
allele frequency: 1.673752217721688e-5
allele num: 119492
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-43G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-43G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-43G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-43G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-43G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12953
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8948
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

1-235577706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577706
    reference: chr 1
allele count: 1
allele frequency: 8.365120792344242e-6
allele num: 119544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-42G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-42G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-42G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-42G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-42G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-235577706-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577706
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577706
    reference: chr 1
allele count: 1
allele frequency: 8.365120792344242e-6
allele num: 119544
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-42G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-42G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-42G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-42G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-42G>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-235577708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577708
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577708
    reference: chr 1
allele count: 1
allele frequency: 8.361204013377926e-6
allele num: 119600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-40G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-40G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-40G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-40G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-40G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8944
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-235577715-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577715
    reference: chr 1
allele count: 1
allele frequency: 8.358548287333457e-6
allele num: 119638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-33A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-33A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-33A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-33A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-33A>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35343
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-235577716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577716
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577716
    reference: chr 1
allele count: 1
allele frequency: 8.350870160670742e-6
allele num: 119748
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-32T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-32T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-32T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-32T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-32T>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-235577722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577722
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577722
    reference: chr 1
allele count: 1
allele frequency: 8.35282325425994e-6
allele num: 119720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-26G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-26G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-26G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-26G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-26G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-235577731-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577731
    reference: chr 1
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.182-17T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.186-17T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.186-17T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.345-17T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.186-17T>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8928
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

1-235577753-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577753
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577753
    reference: chr 1
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.187C>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.191C>G
  hgvsp: ENSP00000384571.1:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.191C>G
  hgvsp: ENSP00000439170.1:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.191C>G
  hgvsp: ENSP00000355560.3:p.Pro64Arg
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.350C>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro64Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-235577753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577753
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577753
    reference: chr 1
allele count: 46
allele frequency: 3.817110613227118e-4
allele num: 120510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.187C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.191C>T
  hgvsp: ENSP00000384571.1:p.Pro64Leu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.191C>T
  hgvsp: ENSP00000355560.3:p.Pro64Leu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.191C>T
  hgvsp: ENSP00000439170.1:p.Pro64Leu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.350C>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26467
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro64Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

1-235577754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577754
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577754
    reference: chr 1
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.192G>A
  hgvsp: ENST00000366601.3:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.188G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.192G>A
  hgvsp: ENST00000406207.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.351G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.192G>A
  hgvsp: ENST00000543662.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro64Pro
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/1-235577756-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577756
    reference: chr 1
allele count: 43
allele frequency: 3.565269302202176e-4
allele num: 120608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.190C>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.194C>A
  hgvsp: ENSP00000384571.1:p.Thr65Lys
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.194C>A
  hgvsp: ENSP00000355560.3:p.Thr65Lys
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.194C>A
  hgvsp: ENSP00000439170.1:p.Thr65Lys
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.353C>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr65Lys
num of homozygotes: 1
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-235577763-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577763
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577763
    reference: chr 1
allele count: 2
allele frequency: 1.655985559805918e-5
allele num: 120774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.360A>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.197A>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.201A>C
  hgvsp: ENST00000406207.1:c.201A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.201A>C
  hgvsp: ENST00000543662.1:c.201A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.201A>C
  hgvsp: ENST00000366601.3:c.201A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly67Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-235577773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577773
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577773
    reference: chr 1
allele count: 2
allele frequency: 1.654834599281802e-5
allele num: 120858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.207C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.211C>T
  hgvsp: ENSP00000355560.3:p.Arg71Cys
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.370C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.211C>T
  hgvsp: ENSP00000439170.1:p.Arg71Cys
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.211C>T
  hgvsp: ENSP00000384571.1:p.Arg71Cys
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8907
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg71Cys
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: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-235577774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577774
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577774
    reference: chr 1
allele count: 7
allele frequency: 5.791633571617686e-5
allele num: 120864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.212G>A
  hgvsp: ENSP00000439170.1:p.Arg71His
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.212G>A
  hgvsp: ENSP00000355560.3:p.Arg71His
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.212G>A
  hgvsp: ENSP00000384571.1:p.Arg71His
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.371G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.208G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8907
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg71His
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: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

1-235577776-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577776
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577776
    reference: chr 1
allele count: 426
allele frequency: 3.524389436759547e-3
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.214C>T
  hgvsp: ENSP00000384571.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.373C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.214C>T
  hgvsp: ENSP00000355560.3:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.214C>T
  hgvsp: ENSP00000439170.1:p.Pro72Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.210C>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 12972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 298
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8386
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9012
  bin: 9.75e1
  variant carriers: 424
genotype quality: GenotypeQuality
  all individuals: 2016
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro72Ser
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

1-235577777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577777
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577777
    reference: chr 1
allele count: 2
allele frequency: 1.65461555007694e-5
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.374C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.215C>T
  hgvsp: ENSP00000439170.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.211C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.215C>T
  hgvsp: ENSP00000355560.3:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.215C>T
  hgvsp: ENSP00000384571.1:p.Pro72Leu
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8628
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro72Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-235577778-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577778
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577778
    reference: chr 1
allele count: 3
allele frequency: 2.48184119525472e-5
allele num: 120878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.212G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.216G>A
  hgvsp: ENST00000406207.1:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.216G>A
  hgvsp: ENST00000366601.3:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.375G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.216G>A
  hgvsp: ENST00000543662.1:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro72Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-235577778-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577778
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577778
    reference: chr 1
allele count: 4
allele frequency: 3.30912159367296e-5
allele num: 120878
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.216G>C
  hgvsp: ENST00000406207.1:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.216G>C
  hgvsp: ENST00000366601.3:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.216G>C
  hgvsp: ENST00000543662.1:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.212G>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.375G>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8628
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8464
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro72Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

1-235577786-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577786
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577785
    reference: chr 1
allele count: 1
allele frequency: 8.272393368849475e-6
allele num: 120884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.227delA
  hgvsp: ENSP00000384571.1:p.Asn76IlefsTer16
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.386delA
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.227delA
  hgvsp: ENSP00000355560.3:p.Asn76IlefsTer16
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.227delA
  hgvsp: ENSP00000439170.1:p.Asn76IlefsTer16
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.223delA
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn76IlefsTer16
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: TA
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

1-235577791-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577791
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577791
    reference: chr 1
allele count: 1
allele frequency: 8.272803984182399e-6
allele num: 120878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.229T>G
  hgvsp: ENSP00000439170.1:p.Phe77Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.229T>G
  hgvsp: ENSP00000355560.3:p.Phe77Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.388T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.229T>G
  hgvsp: ENSP00000384571.1:p.Phe77Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.225T>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8622
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe77Val
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-235577806-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577806
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577806
    reference: chr 1
allele count: 2
allele frequency: 1.654971534489607e-5
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.244C>A
  hgvsp: ENSP00000355560.3:p.Leu82Ile
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.244C>A
  hgvsp: ENSP00000384571.1:p.Leu82Ile
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.240C>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.244C>A
  hgvsp: ENSP00000439170.1:p.Leu82Ile
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.403C>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8622
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu82Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-235577808-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577808
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577808
    reference: chr 1
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.246T>C
  hgvsp: ENST00000406207.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.246T>C
  hgvsp: ENST00000366601.3:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.405T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.246T>C
  hgvsp: ENST00000543662.1:c.246T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.242T>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8461
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36628
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu82Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum

1-235577809-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577809
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577809
    reference: chr 1
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.406A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.243A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.247A>G
  hgvsp: ENSP00000384571.1:p.Thr83Ala
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.247A>G
  hgvsp: ENSP00000439170.1:p.Thr83Ala
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.247A>G
  hgvsp: ENSP00000355560.3:p.Thr83Ala
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26754
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr83Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-235577813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577813
    reference: chr 1
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.247C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.410C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.251C>T
  hgvsp: ENSP00000355560.3:p.Ala84Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.251C>T
  hgvsp: ENSP00000439170.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.251C>T
  hgvsp: ENSP00000384571.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala84Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

1-235577814-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577814
    reference: chr 1
allele count: 2
allele frequency: 1.655108492361674e-5
allele num: 120838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.252A>T
  hgvsp: ENST00000366601.3:c.252A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.252A>T
  hgvsp: ENST00000406207.1:c.252A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.411A>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.252A>T
  hgvsp: ENST00000543662.1:c.252A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.248A>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala84Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

1-235577815-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577815
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577815
    reference: chr 1
allele count: 113
allele frequency: 9.351827330508475e-4
allele num: 120832
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.253A>G
  hgvsp: ENSP00000355560.3:p.Ile85Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.253A>G
  hgvsp: ENSP00000439170.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.249A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.253A>G
  hgvsp: ENSP00000384571.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.412A>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8630
  bin: 9.75e1
  variant carriers: 113
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36613
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile85Val
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-235577824-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577824
    reference: chr 1
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.262C>A
  hgvsp: ENSP00000355560.3:p.Arg88Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.262C>A
  hgvsp: ENSP00000384571.1:p.Arg88Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.421C>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.262C>A
  hgvsp: ENSP00000439170.1:p.Arg88Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.258C>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8482
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg88Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-235577824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577824
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577824
    reference: chr 1
allele count: 5
allele frequency: 4.139004321120511e-5
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.262C>T
  hgvsp: ENSP00000384571.1:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.421C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.262C>T
  hgvsp: ENSP00000355560.3:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.262C>T
  hgvsp: ENSP00000439170.1:p.Arg88Cys
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.258C>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg88Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-235577825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577825
    reference: chr 1
allele count: 2
allele frequency: 1.655601728448204e-5
allele num: 120802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.259G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.263G>A
  hgvsp: ENSP00000355560.3:p.Arg88His
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.263G>A
  hgvsp: ENSP00000439170.1:p.Arg88His
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.263G>A
  hgvsp: ENSP00000384571.1:p.Arg88His
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.422G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg88His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-235577832-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577832
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577832
    reference: chr 1
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.266G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.429G>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.270G>T
  hgvsp: ENST00000543662.1:c.270G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.270G>T
  hgvsp: ENST00000406207.1:c.270G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.270G>T
  hgvsp: ENST00000366601.3:c.270G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26820
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36663
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8480
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val90Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

1-235577834-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577834
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577834
    reference: chr 1
allele count: 25
allele frequency: 2.069810570936548e-4
allele num: 120784
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.268T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.431T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.272T>C
  hgvsp: ENSP00000439170.1:p.Leu91Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.272T>C
  hgvsp: ENSP00000384571.1:p.Leu91Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.272T>C
  hgvsp: ENSP00000355560.3:p.Leu91Ser
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu91Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-235577840-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577840
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577840
    reference: chr 1
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.274A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.437A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.278A>G
  hgvsp: ENSP00000439170.1:p.Asp93Gly
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.278A>G
  hgvsp: ENSP00000355560.3:p.Asp93Gly
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.278A>G
  hgvsp: ENSP00000384571.1:p.Asp93Gly
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp93Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-235577841-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577841
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577841
    reference: chr 1
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.279T>C
  hgvsp: ENST00000543662.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.279T>C
  hgvsp: ENST00000366601.3:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.275T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.438T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.279T>C
  hgvsp: ENST00000406207.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8485
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp93Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

1-235577843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577843
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577843
    reference: chr 1
allele count: 41
allele frequency: 3.394320721914066e-4
allele num: 120790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.440G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.281G>A
  hgvsp: ENSP00000355560.3:p.Gly94Glu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.281G>A
  hgvsp: ENSP00000439170.1:p.Gly94Glu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.277G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.281G>A
  hgvsp: ENSP00000384571.1:p.Gly94Glu
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 9.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8546
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8486
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly94Glu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

1-235577845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577845
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577845
    reference: chr 1
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.283C>T
  hgvsp: ENSP00000355560.3:p.Pro95Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.283C>T
  hgvsp: ENSP00000384571.1:p.Pro95Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.283C>T
  hgvsp: ENSP00000439170.1:p.Pro95Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.279C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.442C>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8466
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro95Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

1-235577847-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577847
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577847
    reference: chr 1
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.285A>G
  hgvsp: ENST00000366601.3:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.281A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.285A>G
  hgvsp: ENST00000406207.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.285A>G
  hgvsp: ENST00000543662.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.444A>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro95Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-235577860-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577860
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577860
    reference: chr 1
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.294A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.298A>G
  hgvsp: ENSP00000384571.1:p.Lys100Glu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.298A>G
  hgvsp: ENSP00000355560.3:p.Lys100Glu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.298A>G
  hgvsp: ENSP00000439170.1:p.Lys100Glu
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.457A>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36681
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys100Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

1-235577872-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577872
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577872
    reference: chr 1
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.469G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.310G>A
  hgvsp: ENSP00000384571.1:p.Val104Ile
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.310G>A
  hgvsp: ENSP00000439170.1:p.Val104Ile
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.310G>A
  hgvsp: ENSP00000355560.3:p.Val104Ile
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.306G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8436
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36615
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8460
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val104Ile
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-235577880-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577880
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577880
    reference: chr 1
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.314T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.318T>C
  hgvsp: ENST00000543662.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.318T>C
  hgvsp: ENST00000406207.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.477T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.318T>C
  hgvsp: ENST00000366601.3:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile106Ile
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

1-235577900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577900
    reference: chr 1
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.334C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.338C>T
  hgvsp: ENSP00000355560.3:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.497C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.338C>T
  hgvsp: ENSP00000439170.1:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.338C>T
  hgvsp: ENSP00000384571.1:p.Thr113Ile
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr113Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS

1-235577904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577904
    reference: chr 1
allele count: 1
allele frequency: 8.315040244794785e-6
allele num: 120264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.342C>T
  hgvsp: ENST00000366601.3:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.338C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.501C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.342C>T
  hgvsp: ENST00000543662.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.342C>T
  hgvsp: ENST00000406207.1:c.342C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile114Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

1-235577905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577905
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577905
    reference: chr 1
allele count: 5
allele frequency: 4.158557479581483e-5
allele num: 120234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.502G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.343G>A
  hgvsp: ENSP00000355560.3:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.339G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.343G>A
  hgvsp: ENSP00000384571.1:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.343G>A
  hgvsp: ENSP00000439170.1:p.Gly115Ser
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8437
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 36435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8268
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly115Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-235577917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577917
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577917
    reference: chr 1
allele count: 2
allele frequency: 1.668474180362059e-5
allele num: 119870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.351A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.355A>G
  hgvsp: ENSP00000439170.1:p.Ile119Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.514A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.355A>G
  hgvsp: ENSP00000384571.1:p.Ile119Val
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.355A>G
  hgvsp: ENSP00000355560.3:p.Ile119Val
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8425
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile119Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

1-235577918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577918
    reference: chr 1
allele count: 1
allele frequency: 8.342649291709075e-6
allele num: 119866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.356T>C
  hgvsp: ENSP00000439170.1:p.Ile119Thr
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.356T>C
  hgvsp: ENSP00000384571.1:p.Ile119Thr
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.356T>C
  hgvsp: ENSP00000355560.3:p.Ile119Thr
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.515T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.352T>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8424
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile119Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

1-235577921-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577921
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577921
    reference: chr 1
allele count: 3
allele frequency: 2.505302891119536e-5
allele num: 119746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.518T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.359T>G
  hgvsp: ENSP00000439170.1:p.Met120Arg
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.359T>G
  hgvsp: ENSP00000384571.1:p.Met120Arg
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.355T>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.359T>G
  hgvsp: ENSP00000355560.3:p.Met120Arg
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8422
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met120Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-235577932-A-AGGTAAGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577932
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577939
    reference: chr 1
allele count: 5
allele frequency: 4.203305479429023e-5
allele num: 118954
alternate allele: AGGTAAGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+2_371+8dupTAAGTGG
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+2_367+8dupTAAGTGG
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+2_530+8dupTAAGTGG
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+2_371+8dupTAAGTGG
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+2_371+8dupTAAGTGG
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25563
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35022
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-235577934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577934
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577934
    reference: chr 1
allele count: 1
allele frequency: 8.412976174451474e-6
allele num: 118864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+1G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+1G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+1G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+1G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+1G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8407
  bin: 9.75e1
  variant carriers: 1
hgvs: c.371+1G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

1-235577936-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577936
    reference: chr 1
allele count: 1
allele frequency: 8.420201748033883e-6
allele num: 118762
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+3A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+3A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+3A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+3A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+3A>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8406
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.75e1
  variant carriers: 0
hgvs: c.371+3A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-235577944-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577944
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577944
    reference: chr 1
allele count: 3
allele frequency: 2.547770700636943e-5
allele num: 117750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+11T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+11T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+11T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+11T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+11T>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7557
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

1-235577949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577949
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577949
    reference: chr 1
allele count: 1
allele frequency: 8.543941491088669e-6
allele num: 117042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+16A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+16A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+16A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+16A>G
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+16A>G
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11664
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30938
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-235577951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577951
    reference: chr 1
allele count: 10
allele frequency: 8.574270329594952e-5
allele num: 116628
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+18C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+18C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+18C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+18C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+18C>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22211
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7111
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 29607
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genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1834
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

1-235577958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577958
    reference: chr 1
allele count: 2
allele frequency: 1.729385722191477e-5
allele num: 115648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+25G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+25G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+25G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+25G>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+25G>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-235577969-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577969
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577969
    reference: chr 1
allele count: 1
allele frequency: 8.770698849284312e-6
allele num: 114016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+36T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+36T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+36T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+36T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+36T>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3319
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

1-235577971-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235577971
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235577971
    reference: chr 1
allele count: 1
allele frequency: 8.83220575506527e-6
allele num: 113222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.367+38G>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.371+38G>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.371+38G>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.530+38G>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.371+38G>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5662
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-235582707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235582707
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235582707
    reference: chr 1
allele count: 2
allele frequency: 1.866786140979689e-5
allele num: 107136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.372-81C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.531-25C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000461651
  gene symbol: TBCE
  hgvsc: ENST00000461651.1:n.102-25C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.372-81C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.368-25C>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.372-81C>T
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-235582715-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235582715
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235582715
    reference: chr 1
allele count: 2
allele frequency: 1.854805801832548e-5
allele num: 107828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.372-73T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.372-73T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000461651
  gene symbol: TBCE
  hgvsc: ENST00000461651.1:n.102-17T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.372-73T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.531-17T>A
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.368-17T>A
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2955
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9653
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-235582718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235582718
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235582718
    reference: chr 1
allele count: 1
allele frequency: 9.248469378317889e-6
allele num: 108126
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000461651
  gene symbol: TBCE
  hgvsc: ENST00000461651.1:n.102-14T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.372-70T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.368-14T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.531-14T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.372-70T>C
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.372-70T>C
  variant of: http://identifiers.org/hgnc/11582
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17911
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5806
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-235582730-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 235582730
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 235582730
    reference: chr 1
allele count: 1
allele frequency: 8.981659451400241e-6
allele num: 111338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000461651
  gene symbol: TBCE
  hgvsc: ENST00000461651.1:n.102-2A>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000384571
  ensembl transcript: ENST00000406207
  gene symbol: TBCE
  hgvsc: ENST00000406207.1:c.372-58A>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000482230
  gene symbol: TBCE
  hgvsc: ENST00000482230.1:n.531-2A>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000439170
  ensembl transcript: ENST00000543662
  gene symbol: TBCE
  hgvsc: ENST00000543662.1:c.372-58A>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000116957
  ensembl protein: ENSP00000355560
  ensembl transcript: ENST00000366601
  gene symbol: TBCE
  hgvsc: ENST00000366601.3:c.372-58A>T
  variant of: http://identifiers.org/hgnc/11582
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000116957
  ensembl transcript: ENST00000472011
  gene symbol: TBCE
  hgvsc: ENST00000472011.1:n.368-2A>T
  variant of: http://identifiers.org/hgnc/11582
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
hgvs: n.368-2A>T
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24455
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17427
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.588e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.993e0

VQSLOD
type: SiteQuality
SIO_000300: 6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.694479e6

FS
type: SiteQuality
SIO_000300: 7.949e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

DP
type: SiteQuality
SIO_000300: 2.688741e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.72e-1

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 507
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1786
bin: 8.25e1
variant carriers: 18

GenotypeQuality
all individuals: 2007
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1082
bin: 9.25e1
variant carriers: 25

Latino
type: Population
allele count: 698
allele frequency: 6.061132337617228e-2
allele num: 11516
num of homozygotes: 25

European (Non-Finnish)
type: Population
allele count: 8755
allele frequency: 1.320991007302794e-1
allele num: 66276
num of homozygotes: 619

South Asian
type: Population
allele count: 482
allele frequency: 2.934015096177258e-2
allele num: 16428
num of homozygotes: 17

African
type: Population
allele count: 234
allele frequency: 2.264370040642539e-2
allele num: 10334
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 659
allele frequency: 1.001824262693828e-1
allele num: 6578
num of homozygotes: 30

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 65
allele frequency: 7.158590308370044e-2
allele num: 908
num of homozygotes: 2

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

FS
type: SiteQuality
SIO_000300: 8.39e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.95e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.693e0

DP
type: SiteQuality
SIO_000300: 2.817721e6

GenotypeQuality
all individuals: 144
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13831
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 892
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3040
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023523009010099e-5
allele num: 66148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.938360147315371e-4
allele num: 10318
num of homozygotes: 0

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

East Asian
type: Population
allele count: 6
allele frequency: 6.988120195667365e-4
allele num: 8586
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.519e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.537458e6

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13817
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.22e0

FS
type: SiteQuality
SIO_000300: 1.028e0

QD
type: SiteQuality
SIO_000300: 1.363e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.530154e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.095330976472023e-4
allele num: 16406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.027642374882679e-5
allele num: 66058
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 7.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 2.508456e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.343e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.738223535546671e-4
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66064
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.507641e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.301e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.941747572815534e-4
allele num: 10300
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.434e0

DP
type: SiteQuality
SIO_000300: 2.50695e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

QD
type: SiteQuality
SIO_000300: 5.18e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.563e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 5.409e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.829268292682927e-4
allele num: 16400
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.258e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

FS
type: SiteQuality
SIO_000300: 3.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

DP
type: SiteQuality
SIO_000300: 2.498242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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: 10268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.564820450395618e-5
allele num: 65720
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.134e0

MQRankSum
type: SiteQuality
SIO_000300: -3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 2.414102e6

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 3.242e0

QD
type: SiteQuality
SIO_000300: 1.277e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.047e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525832341542311e-5
allele num: 65538
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.386579e6

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.831e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.39e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.852e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 1.634e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173708920187793e-4
allele num: 8520
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1742e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.042e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.068286e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.524204365321302e-5
allele num: 65608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8524
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11486
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 frequency: 8.092251669026907e-4
allele num: 9886
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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 frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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East Asian
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Other
type: Population
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allele frequency: 0.0e0
allele num: 894
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.524855138761818e-5
allele num: 65580
num of homozygotes: 0

South Asian
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.04627288512505e-5
allele num: 65654
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

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

Latino
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allele count: 1
allele frequency: 8.70170553428472e-5
allele num: 11492
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

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

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

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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BaseQRankSum
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SIO_000300: -1.309e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

DP
type: SiteQuality
SIO_000300: 2.071908e6

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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bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9898
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.134e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.071908e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65732
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9900
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

South Asian
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allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.375e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

QD
type: SiteQuality
SIO_000300: 1.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16456
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: 11496
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65748
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65818
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.076298e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

QD
type: SiteQuality
SIO_000300: 1.668e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 11500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520034048762692e-5
allele num: 65788
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.377e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.897e0

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 1.172e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 2.078287e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-1

DP
type: SiteQuality
SIO_000300: 2.081442e6

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.861e1

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.015e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.363e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511395925276585e-5
allele num: 66164
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Other
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allele num: 900
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8606
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.966e1

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

GenotypeQuality
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variant carriers: 46

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 3.022791850553171e-5
allele num: 66164
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Other
type: Population
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allele num: 900
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South Asian
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African
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allele frequency: 4.017244757985499e-3
allele num: 10206
num of homozygotes: 0

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

Latino
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allele frequency: 2.600554785020804e-4
allele num: 11536
num of homozygotes: 0

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

South Asian
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Other
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allele num: 900
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East Asian
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European (Non-Finnish)
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African
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allele num: 10226
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Latino
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allele num: 11536
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 900
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European (Finnish)
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Latino
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South Asian
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African
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East Asian
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.53e-1

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

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

East Asian
type: Population
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allele frequency: 0.0e0
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Latino
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South Asian
type: Population
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Other
type: Population
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African
type: Population
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allele frequency: 1.939864209505335e-4
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.090346e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

QD
type: SiteQuality
SIO_000300: 1.46e1

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.45e0

FS
type: SiteQuality
SIO_000300: 1.129e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

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

GenotypeQuality
all individuals: 36395
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66312
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

MQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

FS
type: SiteQuality
SIO_000300: 6.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 2.091193e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

QD
type: SiteQuality
SIO_000300: 1.203e1

GenotypeQuality
all individuals: 279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1211
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.055615876462782e-4
allele num: 66312
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.25e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

DP
type: SiteQuality
SIO_000300: 2.091702e6

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.434589800443459e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 293
allele frequency: 4.418906282990982e-3
allele num: 66306
num of homozygotes: 1

Latino
type: Population
allele count: 24
allele frequency: 2.075047553173094e-3
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 76
allele frequency: 1.149077713940127e-2
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.332687181972377e-3
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.765899864682003e-4
allele num: 10346
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.546e0

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.120113e6

QD
type: SiteQuality
SIO_000300: 1.201e1

GenotypeQuality
all individuals: 1199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016136329362087e-5
allele num: 66310
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.484e0

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.213e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

DP
type: SiteQuality
SIO_000300: 2.083807e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8628
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508068164681044e-5
allele num: 66310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

DP
type: SiteQuality
SIO_000300: 2.084278e6

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36659
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.634994206257242e-4
allele num: 8630
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.08e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 2.084278e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2228
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8622
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508022680661117e-5
allele num: 66312
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.575e0

DP
type: SiteQuality
SIO_000300: 2.083799e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.08e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

GenotypeQuality
all individuals: 285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
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variant carriers: 0

GenotypeQuality
all individuals: 2032
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8462
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508204633204633e-5
allele num: 66304
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.46e-1

DP
type: SiteQuality
SIO_000300: 2.08369e6

QD
type: SiteQuality
SIO_000300: 1.51e1

MQRankSum
type: SiteQuality
SIO_000300: 4.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.279e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.829e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.698e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36627
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.932367149758454e-4
allele num: 10350
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.083556e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

FS
type: SiteQuality
SIO_000300: 1.693e0

MQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.179e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
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variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509069507741527e-5
allele num: 66266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.243e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.182e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 1.169e0

DP
type: SiteQuality
SIO_000300: 2.083469e6

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2224
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 8464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36636
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508705229172324e-5
allele num: 66282
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.324e1

FS
type: SiteQuality
SIO_000300: 1.591e0

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.08337e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

GenotypeQuality
all individuals: 36611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8619
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.389e0

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.532e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.083323e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8466
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8619
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 609
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.931993817619784e-4
allele num: 10352
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.077e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 3.195e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 2.083364e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.05e-1

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2220
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8464
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.444444444444444e-3
allele num: 900
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 73
allele frequency: 1.101753750490507e-3
allele num: 66258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 34
allele frequency: 5.140610825521621e-3
allele num: 6614
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.79e0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.089451e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.57e0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8526
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36673
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 2.458e0

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 2.080485e6

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8526
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
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: 5
allele frequency: 7.549220920401014e-5
allele num: 66232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.458e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

DP
type: SiteQuality
SIO_000300: 2.080485e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.75e-1

GenotypeQuality
all individuals: 8521
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2225
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509844184080203e-5
allele num: 66232
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

DP
type: SiteQuality
SIO_000300: 2.080116e6

FS
type: SiteQuality
SIO_000300: 2.884e0

VQSLOD
type: SiteQuality
SIO_000300: -2.618e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.294e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.96e-1

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1196
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8519
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e0

FS
type: SiteQuality
SIO_000300: 9.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

DP
type: SiteQuality
SIO_000300: 2.079881e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.45e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

GenotypeQuality
all individuals: 308
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36671
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.419110976716057e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.359147059711861e-4
allele num: 66218
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.655e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.43e-1

DP
type: SiteQuality
SIO_000300: 2.080949e6

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8498
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66202
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.436e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e-1

DP
type: SiteQuality
SIO_000300: 2.078845e6

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
all individuals: 2225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8497
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 9.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.697e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

QD
type: SiteQuality
SIO_000300: 1.097e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.078799e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 2025
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8501
bin: 9.75e1
variant carriers: 41

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

African
type: Population
allele count: 37
allele frequency: 3.572808033989957e-3
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.020326799359691e-5
allele num: 66218
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.332e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 2.078858e6

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.667e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 2.076411e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.437e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.442e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.682e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.315e0

ReadPosRankSum
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SIO_000300: 1.89e0

QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.716e-1

DP
type: SiteQuality
SIO_000300: 2.076179e6

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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 444
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Other
type: Population
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: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.075721e6

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: -1.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513179796023364e-5
allele num: 66086
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.6e0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.075e0

DP
type: SiteQuality
SIO_000300: 2.074078e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

Other
type: Population
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: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

FS
type: SiteQuality
SIO_000300: 8.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

DP
type: SiteQuality
SIO_000300: 2.072961e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.302e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.902e-1

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.676e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.027e0

FS
type: SiteQuality
SIO_000300: 9.513e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.916e1

MQRankSum
type: SiteQuality
SIO_000300: -9.02e-1

FS
type: SiteQuality
SIO_000300: 1.287e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.723842862699339e-5
allele num: 10284
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.077180188392586e-5
allele num: 65820
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.5253668507276e-5
allele num: 65558
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

Other
type: Population
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allele num: 894
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South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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FS
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 92
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
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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allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65554
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
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Other
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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num of homozygotes: 0

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

Other
type: Population
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African
type: Population
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East Asian
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allele num: 8604
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65460
num of homozygotes: 0

Latino
type: Population
allele count: 0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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DP
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SIO_000300: 2.052296e6

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8415
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 408
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1998
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222792858889704e-4
allele num: 16356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080145382862071e-5
allele num: 64932
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

MQ
type: SiteQuality
SIO_000300: 5.21e1

FS
type: SiteQuality
SIO_000300: 5.246e0

MQRankSum
type: SiteQuality
SIO_000300: -4.287e0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 6.59e0

DP
type: SiteQuality
SIO_000300: 2.031867e6

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64874
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.029245e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

GenotypeQuality
all individuals: 570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7887
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1822
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64794
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.12294881214793e-5
allele num: 16332
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.89e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 5.896e1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

FS
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 2.026447e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

GenotypeQuality
all individuals: 392
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8396
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1889
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.849568434032059e-4
allele num: 16220
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 4.947e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.992479e6

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

GenotypeQuality
all individuals: 7256
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8395
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.531393568147014e-4
allele num: 6530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16126
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.954519e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.81e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.16e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
all individuals: 387
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8398
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1671
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.300601707463062e-5
allele num: 63486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.063803929511849e-4
allele num: 9874
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.335e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

DP
type: SiteQuality
SIO_000300: 1.934388e6

FS
type: SiteQuality
SIO_000300: 2.392e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

GenotypeQuality
all individuals: 8382
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.02880658436214e-4
allele num: 9720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588663298700473e-5
allele num: 62946
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.818e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

QD
type: SiteQuality
SIO_000300: 1.551e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

DP
type: SiteQuality
SIO_000300: 1.854014e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e-1

GenotypeQuality
all individuals: 1112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8378
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 413
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variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615717701803141e-5
allele num: 61892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11278
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

DP
type: SiteQuality
SIO_000300: 1.711894e6

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.314e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.118e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.73e-1

GenotypeQuality
all individuals: 1884
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 525
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
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variant carriers: 0

GenotypeQuality
all individuals: 14647
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.904719501335708e-5
allele num: 11230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61402
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

DP
type: SiteQuality
SIO_000300: 1.676793e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.303e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

GenotypeQuality
all individuals: 1738
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 940
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9652
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 558
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.475722081262382e-5
allele num: 57542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15254
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 9.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.604475e6

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.267e0

GenotypeQuality
all individuals: 15632
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1284
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.129018522461145e-4
allele num: 9394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

DP
type: SiteQuality
SIO_000300: 1.640395e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.04e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 1061
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5078
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58198
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.293995859213251e-4
allele num: 7728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 1.68e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.658271e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.625e0